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class="wsprkl btn" title="Jump to next match">▶</a></nav></nav></div><div id="jr-epub-interstitial" class="hidden"></div><div id="jr-content"><article data-type="main"><div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><div class="fm-sec"><h1 id="_NBK132723_"><span class="title" itemprop="name">GeneReviews Authors</span></h1><p class="fm-aai"><a href="#_NBK132723_pubdet_">Publication Details</a></p><p><em>Estimated reading time: 2 hours</em></p></div></div><div class="body-content whole_rhythm" itemprop="text"><p><a href="#IX-A">A</a> · <a href="#IX-B">B</a> · <a href="#IX-C">C</a> · <a href="#IX-D">D</a> · <a href="#IX-E">E</a> · <a href="#IX-F">F</a> · <a href="#IX-G">G</a> · <a href="#IX-H">H</a> · <a href="#IX-I">I</a> · <a href="#IX-J">J</a> · <a href="#IX-K">K</a> · <a href="#IX-L">L</a> · <a href="#IX-M">M</a> · <a href="#IX-N">N</a> · <a href="#IX-O">O</a> · <a href="#IX-P">P</a> · <a href="#IX-Q">Q</a> · <a href="#IX-R">R</a> · <a href="#IX-S">S</a> · <a href="#IX-T">T</a> · <a href="#IX-U">U</a> · <a href="#IX-V">V</a> · <a href="#IX-W">W</a> · <a href="#IX-X">X</a> · <a href="#IX-Y">Y</a> · <a href="#IX-Z">Z</a> · <a href="#IX-3450">Ž</a></p><div id="IX-A"><div class="h2"></div><ul class="simple-list"><li class="half_rhythm">Abbott, Jessica; Atwal Clinic: Genomic & Personalized Medicine<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/mc-def/?report=reader">Molybdenum Cofactor Deficiency</a>
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</li></ul></li><li class="half_rhythm">Abdel-Rahman, Mohamed, MD, PhD; The Ohio State University<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/bap1-tpds/?report=reader">BAP1 Tumor Predisposition Syndrome</a>
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</li></ul></li><li class="half_rhythm">Abdul-Rahman, Omar, MD; Weill Cornell Medicine<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/nbs/?report=reader">SMARCA2-Related Nicolaides-Baraitser Syndrome</a>
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</li></ul></li><li class="half_rhythm">Abela, Lucia, MD, MSc; UCL Great Ormond Street Institute of Child Health<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/dnajc6-pd/?report=reader">DNAJC6 Parkinson Disease</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/kmt2b-dystonia/?report=reader">KMT2B-Related Dystonia</a>
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</li></ul></li><li class="half_rhythm">Abicht, Angela, MD; Medical Genetics Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/cms/?report=reader">Congenital Myasthenic Syndromes Overview</a>
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</li></ul></li><li class="half_rhythm">Abidi, Fatima E, MS, PhD; Greenwood Genetic Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/cls/?report=reader">RPS6KA3-Related Intellectual Disability</a>
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</li></ul></li><li class="half_rhythm">Aboussouan, Loutfi S, MD; Cleveland Clinic<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/alpha1-a/?report=reader">Alpha-1 Antitrypsin Deficiency</a>
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</li></ul></li><li class="half_rhythm">Abrams, Charles K, MD, PhD; University of Illinois at Chicago College of Medicine<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/cmtx/?report=reader">GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes</a>
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</li></ul></li><li class="half_rhythm">Abrash, Elizabeth, BA; Mayo Clinic<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/dent/?report=reader">Dent Disease</a>
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</li></ul></li><li class="half_rhythm">Abu-Amero, Khaled K, PhD; King Saud University<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/glc/?report=reader">Primary Congenital Glaucoma</a>
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</li></ul></li><li class="half_rhythm">Abusrair, Ali, MD; King Faisal Specialist Hospital and Research Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/wss/?report=reader">Woodhouse-Sakati Syndrome</a>
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</li></ul></li><li class="half_rhythm">Accardo, Marie-Louise, MS; University of Michigan Medical School<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/pot1-tpd/?report=reader">POT1 Tumor Predisposition</a>
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</li></ul></li><li class="half_rhythm">Achermann, John C, MB, MD, PhD; University College London<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/ahc/?report=reader">NR0B1-Related Adrenal Hypoplasia Congenita</a>
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</li></ul></li><li class="half_rhythm">Ackerman, Kate Guernsey, MD; University of Rochester<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/cdh-ov/?report=reader">Congenital Diaphragmatic Hernia Overview</a>
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</li></ul></li><li class="half_rhythm">Adam, Margaret P, MD, MS; University of Washington<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/kabuki/?report=reader">Kabuki Syndrome</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/mws/?report=reader">Mowat-Wilson Syndrome</a>
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</li></ul></li><li class="half_rhythm">Adams, Cameron, MD; Cedars-Sinai Medical Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/myotonic-d/?report=reader">Myotonic Dystrophy Type 1</a>
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</li></ul></li><li class="half_rhythm">Adams, David R, MD, PhD; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/chediak-higashi/?report=reader">Chediak-Higashi Syndrome</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/cbl/?report=reader">Disorders of Intracellular Cobalamin Metabolism</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/issd/?report=reader">Free Sialic Acid Storage Disorders</a>
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</li></ul></li><li class="half_rhythm">Adams, Judith; University of Melbourne<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/adnfle/?report=reader">Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy</a>
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</li></ul></li><li class="half_rhythm">Adams, Paul, PhD; University of British Columbia<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/pnknd/?report=reader">Familial Paroxysmal Nonkinesigenic Dyskinesia</a>
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</li></ul></li><li class="half_rhythm">Adang, Laura, MD, PhD; The Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/m-sulfatase-def/?report=reader">Multiple Sulfatase Deficiency</a>
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</li></ul></li><li class="half_rhythm">Addissie, Yonit A, BA; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/muenke/?report=reader">Muenke Syndrome</a>
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</li></ul></li><li class="half_rhythm">Adler, Eric D, MD; University of California San Diego<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/danon/?report=reader">Danon Disease</a>
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</li></ul></li><li class="half_rhythm">Adsit, Jessica, MS; Legacy Center for Maternal Fetal Medicine<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/oi/?report=reader">COL1A1/2 Osteogenesis Imperfecta</a>
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</li></ul></li><li class="half_rhythm">Afzal, Ali R, MD, MSc, PhD; University of London<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/rob/?report=reader">ROR2-Related Robinow Syndrome</a>
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</li></ul></li><li class="half_rhythm">Agochukwu, Nneamaka B, BS; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/muenke/?report=reader">Muenke Syndrome</a>
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</li></ul></li><li class="half_rhythm">Agosto, Caterina, MD; Padua University Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/coq10-def/?report=reader">Primary Coenzyme Q10 Deficiency Overview</a>
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</li></ul></li><li class="half_rhythm">Ah Mew, Nicholas, MD; Children’s National Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/otc-def/?report=reader">Ornithine Transcarbamylase Deficiency</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/ucd-overview/?report=reader">Urea Cycle Disorders Overview</a>
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</li></ul></li><li class="half_rhythm">Ahearn, Mary Ellen, MS; Translational Genomics Research Institute<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/sma-xli/?report=reader">Spinal Muscular Atrophy, X-Linked Infantile</a>
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</li></ul></li><li class="half_rhythm">Ahmad, Ayesha, MD; University of Michigan School of Medicine<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/cpt1a/?report=reader">Carnitine Palmitoyltransferase 1A Deficiency</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/pdc/?report=reader">Pyruvate Carboxylase Deficiency</a>
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</li></ul></li><li class="half_rhythm">Ahmad, Saya, BSc; University Medical Center Utrecht<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/vhl/?report=reader">Von Hippel-Lindau Syndrome</a>
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</li></ul></li><li class="half_rhythm">Ahmed, Rebekah, PhD; University of Sydney<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/ftdp-17/?report=reader">MAPT-Related Frontotemporal Dementia</a>
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</li></ul></li><li class="half_rhythm">Ahnen, Dennis J, MD; Gastroenterology of the Rockies<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/fap/?report=reader">APC-Associated Polyposis Conditions</a>
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</li></ul></li><li class="half_rhythm">Ahn, Haejun, MD; Stanford University School of Medicine<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/amrf/?report=reader">SCARB2-Related Action Myoclonus – Renal Failure Syndrome</a>
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</li></ul></li><li class="half_rhythm">Ahrens-Nicklas, Rebecca, MD, PhD; The Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/m-sulfatase-def/?report=reader">Multiple Sulfatase Deficiency</a>
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</li></ul></li><li class="half_rhythm">Aicardi, Jean, MD; Hôpital Robert Debré<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/ags/?report=reader">Aicardi-Goutieres Syndrome</a>
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</li></ul></li><li class="half_rhythm">Aigner, Ludwig, PhD; Paracelsus Medical University Salzburg<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/dcx/?report=reader">DCX-Related Disorders</a>
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</li></ul></li><li class="half_rhythm">Ait-El-Mkadem Saadi, Samira, PhD; Nice Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/chchd10-dis/?report=reader">CHCHD10-Related Disorders</a>
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</li></ul></li><li class="half_rhythm">Akers, Amy, PhD; Angioma Alliance<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/ccm/?report=reader">Familial Cerebral Cavernous Malformation</a>
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</li></ul></li><li class="half_rhythm">Akesson, Lauren S, MBBS (Hons), PhD; University of Melbourne<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/fop/?report=reader">Fibrodysplasia Ossificans Progressiva</a>
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</li></ul></li><li class="half_rhythm">Akilapa, Rhoda, BMedSci; Guy's and St Thomas' NHS Trust<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/gr_3ms/?report=reader">3-M Syndrome</a>
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</li></ul></li><li class="half_rhythm">Akman, H Orhan, PhD; Columbia University Medical Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/apbd/?report=reader">GBE1 Adult Polyglucosan Body Disease</a>
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</li></ul></li><li class="half_rhythm">Aksentijevich, Ivona, MD; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/ada2-def/?report=reader">Adenosine Deaminase 2 Deficiency</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/haplo-a20/?report=reader">Haploinsufficiency of A20</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/traps/?report=reader">TNF Receptor-Associated Periodic Fever Syndrome</a>
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</li></ul></li><li class="half_rhythm">Al-Hashem, Amal, MD; King Fahad Specialist Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/bgd-biotin/?report=reader">Biotin-Thiamine-Responsive Basal Ganglia Disease </a>
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</li></ul></li><li class="half_rhythm">Al-Hassnan, Zuhair N, MD; King Faisal Specialist Hospital & Research Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/isca2-mt-dis/?report=reader">ISCA2-Related Mitochondrial Disorder</a>
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</li></ul></li><li class="half_rhythm">Al-Shekaili, Hilal, PhD; University of British Columbia<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/plpbp-def/?report=reader">PLPBP Deficiency</a>
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</li></ul></li><li class="half_rhythm">Ala-Kokko, Leena M, MD, PhD; Connective Tissue Gene Tests<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/stickler/?report=reader">Stickler Syndrome</a>
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</li></ul></li><li class="half_rhythm">Alasti, Fatemeh, PhD; University of Iowa<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/pendred/?report=reader">SLC26A4-Related Sensorineural Hearing Loss</a>
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</li></ul></li><li class="half_rhythm">Albert, Jessica, PhD; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/snyder-robinson/?report=reader">Snyder-Robinson Syndrome</a>
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</li></ul></li><li class="half_rhythm">Alders, Mariëlle, PhD; University of Amsterdam<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/rws/?report=reader">Long QT Syndrome Overview</a>
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</li></ul></li><li class="half_rhythm">Aleck, Kirk, MD; Phoenix Children's Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/fum/?report=reader">Fumarate Hydratase Deficiency</a>
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</li></ul></li><li class="half_rhythm">Alecu, Julian E; Boston Children's Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/ap4-def/?report=reader">AP-4-Associated Hereditary Spastic Paraplegia</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/spg15/?report=reader">Spastic Paraplegia 15</a>
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</li></ul></li><li class="half_rhythm">Alexander, R Todd, MD, PhD; University of Alberta<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/hered-drta/?report=reader">Hereditary Distal Renal Tubular Acidosis</a>
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</li></ul></li><li class="half_rhythm">Alfadhel, Majid, MD, MHSc; King Abdulaziz Medical City<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/as-def/?report=reader">Asparagine Synthetase Deficiency</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/bgd-biotin/?report=reader">Biotin-Thiamine-Responsive Basal Ganglia Disease </a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/emc10-ndd/?report=reader">EMC10-Related Neurodevelopmental Disorder</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/amish-mcph/?report=reader">SLC25A19-Related Thiamine Metabolism Dysfunction</a>
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</li></ul></li><li class="half_rhythm">Alkaya, Dilek Uludag, MD, PhD; Istanbul University<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/tps/?report=reader">Trichorhinophalangeal Syndrome</a>
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</li></ul></li><li class="half_rhythm">Alkhunaizi, Ebba, MD; North York General Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/ppp1r12a-ubm/?report=reader">PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/warsaw/?report=reader">Warsaw Syndrome</a>
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</li></ul></li><li class="half_rhythm">Alkuraya, Fowzan S, MD; King Faisal Specialist Hospital and Research Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/atn1-ndd/?report=reader">ATN1-Related Neurodevelopmental Disorder</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/idednik/?report=reader">IDEDNIK Syndrome</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/nkx6-2-spax/?report=reader">NKX6-2-Related Disorder</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/warsaw/?report=reader">Warsaw Syndrome</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/wss/?report=reader">Woodhouse-Sakati Syndrome</a>
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</li></ul></li><li class="half_rhythm">Allanson, Judith E, MD; Children's Hospital of Eastern Ontario<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/noonan/?report=reader">Noonan Syndrome</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/sms/?report=reader">Smith-Magenis Syndrome</a>
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</li></ul></li><li class="half_rhythm">Allen, Albert J, MD, PhD; Eli Lilly Laboratories, Inc<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/sms/?report=reader">Smith-Magenis Syndrome</a>
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</li></ul></li><li class="half_rhythm">Allenspach, Eric J, MD, PhD; University of Washington<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/x-scid/?report=reader">X-Linked Severe Combined Immunodeficiency</a>
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</li></ul></li><li class="half_rhythm">Almannai, Mohammed, MD; King Abdulaziz Medical City<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/el-hattab-alkuraya/?report=reader">El-Hattab-Alkuraya Syndrome</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/fars2-def/?report=reader">FARS2 Deficiency</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/fbxl4-mtddepl/?report=reader">FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/melas/?report=reader">MELAS</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/mpv17-mtdep/?report=reader">MPV17-Related Hepatocerebral Mitochondrial DNA Maintenance Defect</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/cdsp/?report=reader">Primary Carnitine Deficiency</a>
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</li></ul></li><li class="half_rhythm">Alsaif, Hessa S, MSc; King Abdulaziz City for Science and Technology<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/idednik/?report=reader">IDEDNIK Syndrome</a>
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</li></ul></li><li class="half_rhythm">Alsharhan, Hind, MD; Kuwait University<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/bgd-biotin/?report=reader">Biotin-Thiamine-Responsive Basal Ganglia Disease </a>
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</li></ul></li><li class="half_rhythm">Alter, Blanche P, MD, MPH; National Cancer Institute<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/fa/?report=reader">Fanconi Anemia</a>
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</li></ul></li><li class="half_rhythm">Ambartsumyan, Lusine, MD; Children's Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/mmihs-ov/?report=reader">Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Amendola, Maria, MD; UPMC Children's Hospital of Pittsburgh<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/chol-liver-ov/?report=reader">Pediatric Genetic Cholestatic Liver Disease Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Amiel, Jeanne, MD, PhD; Institut Imagine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ankrd17-nds/?report=reader">ANKRD17-Related Neurodevelopmental Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/mn1-ctt/?report=reader">MN1 C-Terminal Truncation Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Amos, Christopher I, PhD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pjs/?report=reader">Peutz-Jeghers Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Amrom, Dina, MD; Montreal Neurological Hospital and Institute<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/amrf/?report=reader">SCARB2-Related Action Myoclonus – Renal Failure Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Amudhavalli, Shivarajan Manickavasagam, MD; Children's Mercy Hospitals and Clinics<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ayme-gripp/?report=reader">Ayme-Gripp Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Andermann, Eva, MD, PhD; Montreal Neurological Hospital and Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/lafora/?report=reader">Progressive Myoclonus Epilepsy, Lafora Type</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/amrf/?report=reader">SCARB2-Related Action Myoclonus – Renal Failure Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Andermann, Frederick, MD; Montreal Neurological Hospital and Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/amrf/?report=reader">SCARB2-Related Action Myoclonus – Renal Failure Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Anderson, David G, MBBCh; University of the Witwatersrand<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hd-l2/?report=reader">Huntington Disease-Like 2</a>
|
|
</li></ul></li><li class="half_rhythm">Anderson, Karl E, MD; University of Texas Medical Branch<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/porphyria-var/?report=reader">Variegate Porphyria</a>
|
|
</li></ul></li><li class="half_rhythm">Anderson, Matthew W, MD, PhD; BloodCenter of Wisconsin<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ankrd26/?report=reader">ANKRD26-Related Thrombocytopenia</a>
|
|
</li></ul></li><li class="half_rhythm">Andreu, Antonio L, MD, PhD; Hospital Universitari Vall d'Hebron<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gsd5/?report=reader">Glycogen Storage Disease Type V</a>
|
|
</li></ul></li><li class="half_rhythm">Andrews, Caroline V, MSc; Children's Hospital Boston<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cfeom/?report=reader">Congenital Fibrosis of the Extraocular Muscles Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/duane/?report=reader">Duane Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Angelini, Corrado, MD; University of Padova<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/lgmd2a/?report=reader">Calpainopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Angione, Katie, MS; University of Colorado<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cdkl5-def/?report=reader">CDKL5 Deficiency Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/slc6a1-ndd/?report=reader">SLC6A1-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Anikster, Yair, MD; Safra Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mga3/?report=reader">Costeff Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Antonellis, Anthony, PhD; University of Michigan Medical School<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cmt2d/?report=reader">GARS-Associated Axonal Neuropathy</a>
|
|
</li></ul></li><li class="half_rhythm">Anttonen, Anna-Kaisa, MD, PhD; University of Helsinki<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mss/?report=reader">Marinesco-Sjogren Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Anyane-Yeboa, Kwame, MD; Columbia University Irving Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gnb1-e/?report=reader">GNB1 Encephalopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Aoki, Masashi, MD, PhD; Tohoku University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/miyoshi/?report=reader">Dysferlinopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Appelman-Dijkstra, Natasha, MD, PhD; Leiden University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sost/?report=reader">SOST-Related Sclerosing Bone Dysplasias</a>
|
|
</li></ul></li><li class="half_rhythm">Applegarth, Derek A, PhD; University of British Columbia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/nkh/?report=reader">Nonketotic Hyperglycinemia</a>
|
|
</li></ul></li><li class="half_rhythm">Arbour, Laura T, MD; University of British Columbia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sys-h/?report=reader">Hyaline Fibromatosis Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Ardinger, Holly H, MD; GeneReviews<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pitt-hopkins/?report=reader">Pitt-Hopkins Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Arenas, Joaquin, PhD; Hospital 12 de Octubre Research Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gsd5/?report=reader">Glycogen Storage Disease Type V</a>
|
|
</li></ul></li><li class="half_rhythm">Arias, Manuel, MD, PhD; Complexo Hospitalario Universitario<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca36/?report=reader">Spinocerebellar Ataxia Type 36</a>
|
|
</li></ul></li><li class="half_rhythm">Arkilo, Dimitrios, MD; Minnesota Epilepsy Group<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dup15q/?report=reader">Maternal 15q Duplication Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Arlt, Wiebke, DSc, MD; University of Birmingham<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/abs/?report=reader">Cytochrome P450 Oxidoreductase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Arnhold, Ivo Jorge Prado, MD; Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/prop1/?report=reader">PROP1-Related Combined Pituitary Hormone Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Arora, Veronica, MBBS, MD, MS; Sir Ganga Ram Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/fructose1-6-def/?report=reader">Fructose-1,6-Bisphosphatase Deficiency</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/primrose/?report=reader">Primrose Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Arriaga, Moises A, MBA, MD; Louisiana State University Health Sciences Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/usher1/?report=reader">Usher Syndrome Type I</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/usher2/?report=reader">Usher Syndrome Type II</a>
|
|
</li></ul></li><li class="half_rhythm">Arts, Heleen, PhD; McMaster University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ce-dysp/?report=reader">Cranioectodermal Dysplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Arzel-Hézode, Marianne, MD; Assistance Publique – Hôpitaux de Paris<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hpp/?report=reader">Hypokalemic Periodic Paralysis</a>
|
|
</li></ul></li><li class="half_rhythm">Ashizawa, Tetsuo, MD; Houston Methodist Research Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/friedreich/?report=reader">Friedreich Ataxia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca1/?report=reader">Spinocerebellar Ataxia Type 1</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca10/?report=reader">Spinocerebellar Ataxia Type 10</a>
|
|
</li></ul></li><li class="half_rhythm">Assia Batzir, Nurit, MD; Schneider Children's Medical Center of Israel<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/white-sutton/?report=reader">White-Sutton Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Asthagiri, Ashok, MD; University of Virginia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/schwann/?report=reader">LZTR1- and SMARCB1-Related Schwannomatosis</a>
|
|
</li></ul></li><li class="half_rhythm">Astigarraga, Itziar, MD, PhD; Hospital Universitario Cruces<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hlh/?report=reader">Familial Hemophagocytic Lymphohistiocytosis</a>
|
|
</li></ul></li><li class="half_rhythm">Astrin, Kenneth H, PhD; The Mount Sinai School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/fabry/?report=reader">Fabry Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Atwal, Paldeep, MD; Atwal Clinic: Genomic & Personalized Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mc-def/?report=reader">Molybdenum Cofactor Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Aubertin, Gudrun, MD, MSc; Children's and Women's Health Centre of British Columbia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/peters-plus/?report=reader">Peters Plus Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Auer-Grumbach, Michaela, MD; Medical University Graz<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/spg17/?report=reader">BSCL2-Related Neurologic Disorders / Seipinopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Au, Kit Sing, PhD; McGovern Medical School<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tuberous-sclerosis/?report=reader">Tuberous Sclerosis Complex</a>
|
|
</li></ul></li><li class="half_rhythm">Au, Margaret G, MS; Massachusetts General Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/kms/?report=reader">Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Au, Ping-Yee Billie, MD, PhD; Clinical Geneticist, Alberta Children's Hospital, University of Calgary<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/au-kline/?report=reader">Au-Kline Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Austin, Eric D, MD, MSc; Vanderbilt University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pph/?report=reader">Heritable Pulmonary Arterial Hypertension Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Austin, Stephanie, MA, MS; Amicus Therapeutics, Inc<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gsd1/?report=reader">Glycogen Storage Disease Type I</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/gsd9/?report=reader">Phosphorylase Kinase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Autti, Taina, MD, PhD; University of Helsinki<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/plosl/?report=reader">Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Avner, Ellis D, MD; Children's Hospital Health System of Wisconsin<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pkd-ar/?report=reader">Autosomal Recessive Polycystic Kidney Disease – PKHD1</a>
|
|
</li></ul></li><li class="half_rhythm">Axeen, Erika, MD; University of Virginia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gnao1-dis/?report=reader">GNAO1-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Axell, Lisen, MD; University of Colorado Anschutz Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/fap/?report=reader">APC-Associated Polyposis Conditions</a>
|
|
</li></ul></li><li class="half_rhythm">Axelrod, Felicia B, MD; NYU Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hsan4/?report=reader">NTRK1 Congenital Insensitivity to Pain with Anhidrosis</a>
|
|
</li></ul></li><li class="half_rhythm">Ayhan, Fatma, BS; University of Florida College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca8/?report=reader">Spinocerebellar Ataxia Type 8</a>
|
|
</li></ul></li><li class="half_rhythm">Aylsworth, Arthur S, MD; GC University of North Carolina<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hypochondroplasia/?report=reader">Hypochondroplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Aynekin, Busra, PhD; UCL Institute of Neurology<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/nars1/?report=reader">NARS1-Related Neurologic Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Ayres, Lachlan, MB ChB; University Hospitals Dorset<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hfi/?report=reader">Hereditary Fructose Intolerance</a>
|
|
</li></ul></li><li class="half_rhythm">Azaiez, Hela, MS, PhD; University of Iowa<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dfnb1/?report=reader">GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/dfnb9/?report=reader">OTOF-Related Deafness</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/pendred/?report=reader">SLC26A4-Related Sensorineural Hearing Loss</a>
|
|
</li></ul></li><li class="half_rhythm">Azzedine, Hamid, PhD; Academic Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cmt4c/?report=reader">SH3TC2-Related Hereditary Motor and Sensory Neuropathy</a>
|
|
</li></ul></li></ul></div><div id="IX-B"><div class="h2"></div><ul class="simple-list"><li class="half_rhythm">Baas, Frank, MD, PhD; Leiden University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/exosc3-pc-hypo-p/?report=reader">EXOSC3 Pontocerebellar Hypoplasia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/pc-hypo-p/?report=reader">TSEN54 Pontocerebellar Hypoplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Babcock, Holly E, MS; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/og-dysp/?report=reader">Osteoglophonic Dysplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Babovic-Vuksanovic, Dusica, MD; Mayo Clinic<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hartsfield/?report=reader">FGFR1-Related Hartsfield Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/schwann/?report=reader">LZTR1- and SMARCB1-Related Schwannomatosis</a>
|
|
</li></ul></li><li class="half_rhythm">Bachmann, André Stephan, MS, PhD; Michigan State University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bachmann-bupp/?report=reader">Bachmann-Bupp Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Bacino, Carlos A, MD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rob/?report=reader">ROR2-Related Robinow Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Badens, Catherine, PharmD, PhD; Aix-Marseille University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sd-thes/?report=reader">Trichohepatoenteric Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Bader, Benedikt, MD; Ludwig-Maximilians-Universität<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/chac/?report=reader">VPS13A Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Badiger, Vaishnavi Ashok, MSc; Kasturba Medical College, Manipal<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/lpin2-majeed/?report=reader">LPIN2-Related Majeed Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Badminton, Michael N, PhD; University Hospital of Wales<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/aip/?report=reader">Acute Intermittent Porphyria</a>
|
|
</li></ul></li><li class="half_rhythm">Bahi-Buisson, Nadia, MD, PhD; Université de Paris<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tubulin-ov/?report=reader">Tubulinopathies Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Bailey, Laurie, MS; Cincinnati Children's Hospital Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gsd2/?report=reader">Pompe Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Bain, Jennifer, MD, PhD; Columbia University Irving Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hnrnph2-ndd/?report=reader">HNRNPH2-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Baker, Duncan, MSc; Sheffield Children's NHS Foundation Trust<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tnxb-eds/?report=reader">TNXB-Related Classical-Like Ehlers-Danlos Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Baker, Maria J, PhD; Penn State Hershey Cancer Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pjs/?report=reader">Peutz-Jeghers Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Baker, Peter, MD; Children's Hospital Colorado<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hfi/?report=reader">Hereditary Fructose Intolerance</a>
|
|
</li></ul></li><li class="half_rhythm">Balasubramanian, Meena, MBBS, MD; University of Sheffield<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/asxl3/?report=reader">ASXL3-Related Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/hnrnpu-ndd/?report=reader">HNRNPU-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Balasubramanian, Ravikumar, MD, PhD; Massachusetts General Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/kms/?report=reader">Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Baldassari, Sara, PhD; Paris Brain Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/depdc5-epilepsy/?report=reader">DEPDC5-Related Epilepsy</a>
|
|
</li></ul></li><li class="half_rhythm">Balduini, Carlo L, MD; University of Pavia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/myh9/?report=reader">MYH9-Related Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Bale, Sherri J, PhD; GeneDx, Inc<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/li-ar/?report=reader">Autosomal Recessive Congenital Ichthyosis</a>
|
|
</li></ul></li><li class="half_rhythm">Bali, Deeksha S, PhD; Duke University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/gsd1/?report=reader">Glycogen Storage Disease Type I</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/gsd9/?report=reader">Phosphorylase Kinase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Balint, Bettina, MD; UCL Queen Square Institute of Neurology<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hyperek/?report=reader">Hereditary Hyperekplexia Overview</a>
|
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</li></ul></li><li class="half_rhythm">Ballhausen, Diana, MD; Lausanne University Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/achon1b/?report=reader">Achondrogenesis Type 1B</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/ao2/?report=reader">Atelosteogenesis Type 2</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/diastrophic-d/?report=reader">Diastrophic Dysplasia</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/edm/?report=reader">SLC26A2-Related Multiple Epiphyseal Dysplasia</a>
|
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</li></ul></li><li class="half_rhythm">Ball, Megan, MD; Murdoch Children's Research Institute<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/narp/?report=reader">Mitochondrial DNA-Associated Leigh Syndrome Spectrum</a>
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</li></ul></li><li class="half_rhythm">Ballout, Rami A, MD; National Institutes of Health<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/xq28-dup/?report=reader">Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated</a>
|
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</li></ul></li><li class="half_rhythm">Baloh, Robert H, MD, PhD; Cedars Sinai Medical Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/tardbp-als/?report=reader">TARDBP-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementia</a>
|
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</li></ul></li><li class="half_rhythm">Balwani, Manisha, MD, MS; Icahn School of Medicine at Mount Sinai<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/cep/?report=reader">Congenital Erythropoietic Porphyria</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/epp-ar/?report=reader">Erythropoietic Protoporphyria, Autosomal Recessive</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/epp-xl/?report=reader">X-Linked Protoporphyria</a>
|
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</li></ul></li><li class="half_rhythm">Banka, Siddharth, MD, PhD; University of Manchester<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/g6pc3-def/?report=reader">G6PC3 Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Bannwarth, Sylvie, PhD; Nice Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/chchd10-dis/?report=reader">CHCHD10-Related Disorders</a>
|
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</li></ul></li><li class="half_rhythm">Baple, Emma L, BSc, MBBS, PhD; University of Exeter Medical School<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/hyal2-def/?report=reader">HYAL2 Deficiency</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/kptn-dis/?report=reader">KPTN-Related Disorder</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/pi4ka/?report=reader">PI4KA-Related Disorder</a>
|
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</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/spg20/?report=reader">Troyer Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Bar-Aluma, Bat-El, MD; Tel Aviv University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/fd/?report=reader">Familial Dysautonomia</a>
|
|
</li></ul></li><li class="half_rhythm">Baradaran-Heravi, Alireza, MD, PhD; University of British Columbia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/siod/?report=reader">Schimke Immunoosseous Dysplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Barakat, Tahsin Stefan, MD, MSc, PhD; Erasmus MC University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/yif1b-ndd/?report=reader">YIF1B-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Baralle, Diana, MBBS, MD; University of Southampton<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/pura-dis/?report=reader">PURA-Related Neurodevelopmental Disorders</a>
|
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</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/trio-id/?report=reader">TRIO-Related Neurodevelopmental Disorder</a>
|
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</li></ul></li><li class="half_rhythm">Barbaro, Michela, PhD; Karolinska University Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/aip/?report=reader">Acute Intermittent Porphyria</a>
|
|
</li></ul></li><li class="half_rhythm">Barbarot, Sébastien, MD, PhD; Service de Génétique médicale – CHU<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hfpoik-tmp/?report=reader">Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis</a>
|
|
</li></ul></li><li class="half_rhythm">Barbosa-Matos, Rita, BSc, PhD; University of Porto<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/hgc/?report=reader">Diffuse Gastric and Lobular Breast Cancer Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Barbosa, Mafalda, MD, PhD; Icahn School of Medicine at Mount Sinai<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/tcs/?report=reader">Treacher Collins Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Baris, Hagit N, MD; The Genetics Clinic - Rambam Health Care Campus<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/glyt1-dis/?report=reader">GLYT1 Encephalopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Barrett, Timothy, MBBS, PhD; University of Birmingham<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/alstrom/?report=reader">Alstrom Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/wfs/?report=reader">WFS1 Spectrum Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Barrios, Emily S; Children's National Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ssadh/?report=reader">Succinic Semialdehyde Dehydrogenase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Barr, Marci L, ScM; Geisinger Health System<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/lal-def/?report=reader">Lysosomal Acid Lipase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Barron, Karyl, MD; National Institute of Allergy and Infectious Diseases<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ada2-def/?report=reader">Adenosine Deaminase 2 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Barry, Brenda J, MS; Harvard Medical School<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/duane/?report=reader">Duane Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Barth, Peter G, MD, PhD; University of Amsterdam<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/exosc3-pc-hypo-p/?report=reader">EXOSC3 Pontocerebellar Hypoplasia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/pc-hypo-p/?report=reader">TSEN54 Pontocerebellar Hypoplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Barton, James C, MD; Southern Iron Disorders Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hemochromatosis/?report=reader">HFE-Related Hemochromatosis</a>
|
|
</li></ul></li><li class="half_rhythm">Basel-Salmon, Lina, MD, PhD; Rabin Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/kos/?report=reader">Kaufman Oculocerebrofacial Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Basel, Donald, MD; Medical College of Wisconsin<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/oi/?report=reader">COL1A1/2 Osteogenesis Imperfecta</a>
|
|
</li></ul></li><li class="half_rhythm">Baskin, Berivan, PhD; Uppsala University Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cherubism/?report=reader">Cherubism</a>
|
|
</li></ul></li><li class="half_rhythm">Bason, Lynn D, MS; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alagille/?report=reader">Alagille Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Basson, Craig T, MD, PhD; Novartis Institutes for BioMedical Research<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hos/?report=reader">Holt-Oram Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Bassuk, Alexander G, MD, PhD; University of Iowa<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/me-ataxia/?report=reader">PRICKLE1-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Bauer, Andrew J, MD; Children’s Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pp-blastoma/?report=reader">DICER1 Tumor Predisposition</a>
|
|
</li></ul></li><li class="half_rhythm">Baulac, Stéphanie, PhD; Institut du Cerveau et de la Moelle épinière<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/depdc5-epilepsy/?report=reader">DEPDC5-Related Epilepsy</a>
|
|
</li></ul></li><li class="half_rhythm">Baumann, Matthias, MD; Medical University of Innsbruck<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/fkbp14-keds/?report=reader">FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Baumbach-Reardon, Lisa, PhD; Dr Kiran C Patel College of Medicine - Tampa Bay Campus<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sma-xli/?report=reader">Spinal Muscular Atrophy, X-Linked Infantile</a>
|
|
</li></ul></li><li class="half_rhythm">Bayat, Allan; Danish Epilepsy Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gria2-ndd/?report=reader">GRIA2-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Bayrak-Toydemir, Pinar, MD, PhD; University of Utah<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rasa1-rel-dis/?report=reader">Capillary Malformation-Arteriovenous Malformation Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Bayzaei, Zahra, PhD; Shiraz University of Medical Sciences<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tyrosinemia-2/?report=reader">Tyrosinemia Type II</a>
|
|
</li></ul></li><li class="half_rhythm">Beales, Philip L, BSc, MD; University College London<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bbs/?report=reader">Bardet-Biedl Syndrome Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Bean, Lora JH, PhD; PerkinElmer Genomics, Inc<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gale-def/?report=reader">Epimerase Deficiency Galactosemia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/mws/?report=reader">Mowat-Wilson Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Beara-Lasic, Lada, MD; New York University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dent/?report=reader">Dent Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Bearden, David R, MD; University of Rochester School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/kcnt1-epilepsy/?report=reader">KCNT1-Related Epilepsy</a>
|
|
</li></ul></li><li class="half_rhythm">Beaudet, Arthur L, MD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/actg2-dis/?report=reader">ACTG2 Visceral Myopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Beaudin, Marie, MD; Université Laval<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/syne1ca-ar/?report=reader">SYNE1 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Bech-Hansen, N Torben, PhD; University of Calgary<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/csnb/?report=reader">X-Linked Congenital Stationary Night Blindness</a>
|
|
</li></ul></li><li class="half_rhythm">Becker, Michael A, MD; University of Chicago Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/prs/?report=reader">Phosphoribosylpyrophosphate Synthetase Superactivity</a>
|
|
</li></ul></li><li class="half_rhythm">Beckwith, J Bruce, MD; Loma Linda University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bws/?report=reader">Beckwith-Wiedemann Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Bedoyan, Jirair K, MD, PhD; University of Pittsburgh School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pdc/?report=reader">Pyruvate Carboxylase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Begtrup, Amber H, PhD; GeneDx, Inc<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/epb42-spherocytosis/?report=reader">EPB42-Related Hereditary Spherocytosis</a>
|
|
</li></ul></li><li class="half_rhythm">Behne, Robert; Boston Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ap4-def/?report=reader">AP-4-Associated Hereditary Spastic Paraplegia</a>
|
|
</li></ul></li><li class="half_rhythm">Beighton, Peter H, MD, PhD; University of Cape Town<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sost/?report=reader">SOST-Related Sclerosing Bone Dysplasias</a>
|
|
</li></ul></li><li class="half_rhythm">Beitel, Lenore K, PhD; McGill University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/androgen/?report=reader">Androgen Insensitivity Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Bejjani, Bassem A, MD; Washington State University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/glc/?report=reader">Primary Congenital Glaucoma</a>
|
|
</li></ul></li><li class="half_rhythm">Bellini, Giulia, PhD; Second University of Naples<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/bfns/?report=reader">KCNQ2-Related Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/kcnq3-dis/?report=reader">KCNQ3-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Bellus, Gary A, MD, PhD; Geisinger Health System<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hypochondroplasia/?report=reader">Hypochondroplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Belmont, John W, MD, PhD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/charge/?report=reader">CHD7 Disorder</a>
|
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</li></ul></li><li class="half_rhythm">Ben Harouch, Shani, MD; Galilee Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/insr-ir/?report=reader">INSR-Related Severe Insulin Resistance Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Ben Yaou, Rabah, MD; Centre de Recherche en Myologie<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/edmd/?report=reader">Emery-Dreifuss Muscular Dystrophy</a>
|
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</li></ul></li><li class="half_rhythm">Ben Zeev, Bruria, MD; Sheba Medical Center, Sackler School of Medicine<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/mecr-dis/?report=reader">MECR-Related Neurologic Disorder</a>
|
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</li></ul></li><li class="half_rhythm">Ben-Zeev, Bruria, MD; Sheba Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/tecpr2-hsan-id/?report=reader">TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability </a>
|
|
</li></ul></li><li class="half_rhythm">Bendahhou, Saïd, PhD; Université Nice Sophia Antipolis<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hpp/?report=reader">Hypokalemic Periodic Paralysis</a>
|
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</li></ul></li><li class="half_rhythm">Bender, MA, MD, PhD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/sickle/?report=reader">Sickle Cell Disease</a>
|
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</li></ul></li><li class="half_rhythm">Benke, Tim A, MD, PhD; University of Colorado School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cdkl5-def/?report=reader">CDKL5 Deficiency Disorder</a>
|
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</li></ul></li><li class="half_rhythm">Bennett, James, MD, PhD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/image/?report=reader">IMAGe Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Bennett, Michael J, PhD; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cpt1a/?report=reader">Carnitine Palmitoyltransferase 1A Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Bennett, Robin L, MS; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hemochromatosis/?report=reader">HFE-Related Hemochromatosis</a>
|
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</li></ul></li><li class="half_rhythm">Bennett, Steffany AL, PhD; University of Ottawa<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/asah1/?report=reader">ASAH1-Related Disorders</a>
|
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</li></ul></li><li class="half_rhythm">Bens, Susanne, MD; Ulm University & Ulm University Medical Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/rtps/?report=reader">Rhabdoid Tumor Predisposition Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Bentivegna, Angela, PhD; University of Milano-Bicocca<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/jh/?report=reader">Juvenile Hemochromatosis</a>
|
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</li></ul></li><li class="half_rhythm">Bento, Celeste, PhD; Centro Hospitalar e Universitário de Coimbra<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/pfcp/?report=reader">Primary Familial and Congenital Erythrocytosis</a>
|
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</li></ul></li><li class="half_rhythm">Bercovitch, Lionel G, MD; Brown Medical School<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/pxe/?report=reader">Pseudoxanthoma Elasticum</a>
|
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</li></ul></li><li class="half_rhythm">Berglöf, Anna, PhD, VMD; Karolinska Institutet<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/xla/?report=reader">X-Linked Agammaglobulinemia</a>
|
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</li></ul></li><li class="half_rhythm">Berkovic, Samuel F, MD; Epilepsy Research Institute<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/adnfle/?report=reader">Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy</a>
|
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</li></ul></li><li class="half_rhythm">Bernard, Geneviève, MD, MSc; McGill University Health Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/pol3-leuk/?report=reader">POLR3-Related Leukodystrophy</a>
|
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</li></ul></li><li class="half_rhythm">Bernier, Raphael, PhD; University of Washington<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/chd8-ndd-og/?report=reader">CHD8-Related Neurodevelopmental Disorder with Overgrowth</a>
|
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</li></ul></li><li class="half_rhythm">Berry-Kravis, Elizabeth M, MD, PhD; Rush University Medical Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/ondine/?report=reader">Congenital Central Hypoventilation Syndrome</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/fragilex/?report=reader">FMR1 Disorders</a>
|
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</li></ul></li><li class="half_rhythm">Berry, Gerard T, MD; Boston Children's Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/galactosemia/?report=reader">Classic Galactosemia and Clinical Variant Galactosemia</a>
|
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</li></ul></li><li class="half_rhythm">Bertaux, Karine, PhD; La Timone Children’s Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/sd-thes/?report=reader">Trichohepatoenteric Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Bertini, Enrico S, MD; Ospedale Bambino Gesu<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/iahsp/?report=reader">ALS2-Related Disorder</a>
|
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</li></ul></li><li class="half_rhythm">Bertola, Francesca, PhD; ASST Monza – San Gerardo Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/jh/?report=reader">Juvenile Hemochromatosis</a>
|
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</li></ul></li><li class="half_rhythm">Betensky, Brian; Weill Medical College of Cornell University<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/cah/?report=reader">21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia</a>
|
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</li></ul></li><li class="half_rhythm">Bhagwat, Pranjali K; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/actg2-dis/?report=reader">ACTG2 Visceral Myopathy</a>
|
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</li></ul></li><li class="half_rhythm">Bharath, Rose Dawn; National Institute of Mental Health and Neurosciences<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/iso-def/?report=reader">Isolated Sulfite Oxidase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Bhatia, Gita, PhD; University of Texs Medical Branch<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/canavan/?report=reader">Canavan Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Bhatia, Sameer, MBBS, MD; Sir Ganga Ram Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/fructose1-6-def/?report=reader">Fructose-1,6-Bisphosphatase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Bhattacharjee, Arin, PhD; University of Buffalo<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/kcnt1-epilepsy/?report=reader">KCNT1-Related Epilepsy</a>
|
|
</li></ul></li><li class="half_rhythm">Bhat, Venkatraman, MD; Mazumdar Shaw Medical Centre / Narayana Hrudayalaya Hospitals<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hoxa1-dis/?report=reader">HOXA1-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Bhavani, Gandham SriLakshmi, MSc, PhD; Manipal Academy of Higher Education<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/exoc6b-semd/?report=reader">EXOC6B-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity</a>
|
|
</li><li class="half_rhythm">
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<a href="/books/n/gene/mona/?report=reader">Multicentric Osteolysis Nodulosis and Arthropathy</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/ppr-dysp/?report=reader">Progressive Pseudorheumatoid Dysplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Bhoj, Elizabeth, MD, PhD; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/brylib/?report=reader">Bryant-Li-Bhoj Neurodevelopmental Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Biaggioni, Italo, MD; Vanderbilt University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dbh/?report=reader">Dopamine Beta-Hydroxylase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Biancheri, Roberta, MD, PhD; Great Ormond Street Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hypo-mcc/?report=reader">Hypomyelination and Congenital Cataract</a>
|
|
</li></ul></li><li class="half_rhythm">Bidichandani, Sanjay I, MBBS, PhD; University of Oklahoma Health Sciences Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/friedreich/?report=reader">Friedreich Ataxia</a>
|
|
</li></ul></li><li class="half_rhythm">Biesecker, Leslie G, MD; National Institutes of Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/phs/?report=reader">GLI3-Related Pallister-Hall Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/gcps/?report=reader">Greig Cephalopolysyndactyly Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/proteus/?report=reader">Proteus Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/amish-mcph/?report=reader">SLC25A19-Related Thiamine Metabolism Dysfunction</a>
|
|
</li></ul></li><li class="half_rhythm">Bijarnia-Mahay, Sunita, MBBS; Sir Ganga Ram Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/fructose1-6-def/?report=reader">Fructose-1,6-Bisphosphatase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Bikker, Hennie, PhD; University of Amsterdam<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rws/?report=reader">Long QT Syndrome Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/tps/?report=reader">Trichorhinophalangeal Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Binder, Gerhard, MD; University Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/lwd/?report=reader">SHOX Deficiency Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Bindu, Parayil Sankaran, MD; Children's Hospital at Westmead<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/huppke-brendel/?report=reader">Huppke-Brendel Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/iso-def/?report=reader">Isolated Sulfite Oxidase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Bird, Thomas D, MD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/adcy5-dysk/?report=reader">ADCY5 Dyskinesia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/alzheimer/?report=reader">Alzheimer Disease Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/cmt/?report=reader">Charcot-Marie-Tooth Hereditary Neuropathy Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/cmt-4a/?report=reader">GDAP1-Related Hereditary Motor and Sensory Neuropathy</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/cmtx/?report=reader">GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ataxias/?report=reader">Hereditary Ataxia Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/hnpp/?report=reader">Hereditary Neuropathy with Liability to Pressure Palsies</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/myotonic-d/?report=reader">Myotonic Dystrophy Type 1</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/samd9l-ap/?report=reader">SAMD9L Ataxia-Pancytopenia Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca14/?report=reader">Spinocerebellar Ataxia Type 14</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca7/?report=reader">Spinocerebellar Ataxia Type 7</a>
|
|
</li></ul></li><li class="half_rhythm">Bissell, D Montgomery, MD; University of California San Francisco<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hcp/?report=reader">Hereditary Coproporphyria</a>
|
|
</li></ul></li><li class="half_rhythm">Bjork, Bryan Cary, PhD; Harvard Medical School<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/vws/?report=reader">IRF6-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Blackstone, Craig, MD, PhD; Massachusetts General Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/spg15/?report=reader">Spastic Paraplegia 15</a>
|
|
</li></ul></li><li class="half_rhythm">Blake, Kim, MD; Dalhousie University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/charge/?report=reader">CHD7 Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Blau, Nenad, PhD; University Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/aadc-def/?report=reader">Aromatic L-Amino Acid Decarboxylase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Bleesing, Jack JH, MD, PhD; Cincinnati Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alps/?report=reader">Autoimmune Lymphoproliferative Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Bley, Annette E, MD; University Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/canavan/?report=reader">Canavan Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Bleyer, Anthony J, MD, MS; Wake Forest School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mckd1/?report=reader">Autosomal Dominant Tubulointerstitial Kidney Disease -- MUC1</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/hyper-nfj2/?report=reader">Autosomal Dominant Tubulointerstitial Kidney Disease -- REN</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/mckd2/?report=reader">Autosomal Dominant Tubulointerstitial Kidney Disease -- UMOD</a>
|
|
</li></ul></li><li class="half_rhythm">Bloise, Raffaella, MD; ICS Maugeri<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/timothy/?report=reader">CACNA1C-Related Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/cvt/?report=reader">Catecholaminergic Polymorphic Ventricular Tachycardia</a>
|
|
</li></ul></li><li class="half_rhythm">Bloomer, Joseph, MD; University of Alabama at Birmingham<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/epp-ar/?report=reader">Erythropoietic Protoporphyria, Autosomal Recessive</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/epp-xl/?report=reader">X-Linked Protoporphyria</a>
|
|
</li></ul></li><li class="half_rhythm">Bober, Michael B, MD, PhD; Nemours Children’s Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cdp1-xlr/?report=reader">Chondrodysplasia Punctata 1, X-Linked</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/hypochondroplasia/?report=reader">Hypochondroplasia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/mopd2/?report=reader">Microcephalic Osteodysplastic Primordial Dwarfism Type II</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/rcdp/?report=reader">Rhizomelic Chondrodysplasia Punctata Type 1</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/rnu4atac-dis/?report=reader">RNU4atac-opathy</a>
|
|
</li></ul></li><li class="half_rhythm">Boccuto, Luigi, MD; Clemson University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gr_22q13_3/?report=reader">Phelan-McDermid Syndrome-SHANK3 Related</a>
|
|
</li></ul></li><li class="half_rhythm">Bodell, Adria, MS; Beth Israel Deaconess Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/x-pvh/?report=reader">FLNA Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Boehm, Corinne D, MS; GC Johns Hopkins Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/x-ald/?report=reader">X-Linked Adrenoleukodystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Boerkoel, Cornelius F, MD, PhD; University of British Columbia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/nsdhl-dis/?report=reader">NSDHL-Related Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/siod/?report=reader">Schimke Immunoosseous Dysplasia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/snyder-robinson/?report=reader">Snyder-Robinson Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/scan1/?report=reader">Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/unc80-def/?report=reader">UNC80 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Boespflug-Tanguy, Odile, MD, PhD; UMR INSERM 676 / Hôpital Robert Debré<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/iahsp/?report=reader">ALS2-Related Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/cach/?report=reader">Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter</a>
|
|
</li></ul></li><li class="half_rhythm">Bohlega, Saeed A, MD; King Faisal Specialist Hospital and Research Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/wss/?report=reader">Woodhouse-Sakati Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Bojanowski, Christine, MD; Tulane University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cf/?report=reader">Cystic Fibrosis</a>
|
|
</li></ul></li><li class="half_rhythm">Bolduc, Véronique, PhD; National Institute of Neurological Disorders and Stroke<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bethlem/?report=reader">Collagen VI-Related Dystrophies</a>
|
|
</li></ul></li><li class="half_rhythm">Boman, Helge, MD, PhD; Haukeland University Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/adamtsl4-eyes/?report=reader">ADAMTSL4-Related Eye Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ciss/?report=reader">Cold-Induced Sweating Syndrome including Crisponi Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/csc-dys/?report=reader">Congenital Stromal Corneal Dystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Bomont, Pascale, PhD; Institute for Neurosciences of Montpellier<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gan/?report=reader">GAN-Related Neurodegeneration</a>
|
|
</li></ul></li><li class="half_rhythm">Bonafé, Luisa, MD, PhD; Lausanne University Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/achon1b/?report=reader">Achondrogenesis Type 1B</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ao2/?report=reader">Atelosteogenesis Type 2</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/diastrophic-d/?report=reader">Diastrophic Dysplasia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/edm/?report=reader">SLC26A2-Related Multiple Epiphyseal Dysplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Bonkovsky, Herbert, MD; Wake Forest University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/porphyria-ct/?report=reader">Familial Porphyria Cutanea Tarda</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/hep/?report=reader">Hepatoerythropoietic Porphyria</a>
|
|
</li></ul></li><li class="half_rhythm">Bonkowski, Emily, ScM; St Jude Children's Research Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gnai1-ndd/?report=reader">GNAI1-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Bonne, Gisèle, PhD; Centre de Recherche en Myologie<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/edmd/?report=reader">Emery-Dreifuss Muscular Dystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Bontoux, Luc, MD; Centre Hospitalier Universitaire d'Angers<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cmt4c/?report=reader">SH3TC2-Related Hereditary Motor and Sensory Neuropathy</a>
|
|
</li></ul></li><li class="half_rhythm">Boon, Elles MJ, PhD; Leiden University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cadasil/?report=reader">CADASIL</a>
|
|
</li></ul></li><li class="half_rhythm">Boon, Laurence M, MD, PhD; Cliniques universitaires Saint-Luc<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/vmcm/?report=reader">TEK-Related Venous Malformations</a>
|
|
</li></ul></li><li class="half_rhythm">Boonstra, Nils-Erik, MD; Haukeland University Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/adamtsl4-eyes/?report=reader">ADAMTSL4-Related Eye Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Booth, Kevin, PhD; Indiana School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dfnb1/?report=reader">GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss</a>
|
|
</li></ul></li><li class="half_rhythm">Borck, Guntram, MD, PhD; University of Ulm<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/kos/?report=reader">Kaufman Oculocerebrofacial Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Bornfeld, Norbert, MD; University of Essen<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/retinoblastoma/?report=reader">Retinoblastoma</a>
|
|
</li></ul></li><li class="half_rhythm">Borroni, Barbara, MD; University of Brescia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca38/?report=reader">Spinocerebellar Ataxia Type 38</a>
|
|
</li></ul></li><li class="half_rhythm">Bosanko, Katherine, MS; University of Arkansas for Medical Sciences<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/satb2-dis/?report=reader">SATB2-Associated Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Bostwick, Bret, MD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cdk13-dis/?report=reader">CDK13-Related Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/focal-dh/?report=reader">PORCN-Related Developmental Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Bouchard, Jean-Pierre, MD; Laval University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/arsacs/?report=reader">ARSACS</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/syne1ca-ar/?report=reader">SYNE1 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Boulinguiez, Alexis, PhD; Centre de Recherche en Myologie<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/opmd/?report=reader">Oculopharyngeal Muscular Dystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Bourdeaut, Franck, MD, PhD; Paris Sciences et Lettres Research University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/rtps/?report=reader">Rhabdoid Tumor Predisposition Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Bourgeois, Patrice, PhD; La Timone Children’s Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sd-thes/?report=reader">Trichohepatoenteric Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Boussion, Simon, MD; CHU de Lille<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/tar/?report=reader">Thrombocytopenia Absent Radius Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Bowdin, Sarah, BMed, MSc; Addenbrooke's Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cherubism/?report=reader">Cherubism</a>
|
|
</li></ul></li><li class="half_rhythm">Bower, Matthew A, MS; University of Minnesota Medical Center, Fairview<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/papr/?report=reader">PAX2-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Boyce, Alison M, MD; National Institute of Dental and Craniofacial Research<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mccune-albright/?report=reader">Fibrous Dysplasia / McCune-Albright Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Boycott, Kym M, MD, PhD; Children's Hospital of Eastern Ontario<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mf-dys-mic/?report=reader">Mandibulofacial Dysostosis with Microcephaly</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/miccap-ms/?report=reader">Microcephaly-Capillary Malformation Syndrome</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/thoc6-id/?report=reader">THOC6 Intellectual Disability Syndrome</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/vldlr-ch/?report=reader">VLDLR Cerebellar Hypoplasia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/csnb/?report=reader">X-Linked Congenital Stationary Night Blindness</a>
|
|
</li></ul></li><li class="half_rhythm">Boyd, Charles D, PhD; John A Burns School of Medicine, University of Hawaii<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pxe/?report=reader">Pseudoxanthoma Elasticum</a>
|
|
</li></ul></li><li class="half_rhythm">Boyd, Kerry E, MD; Hamilton Health Services<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/sms/?report=reader">Smith-Magenis Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Brabbing-Goldstein, Dana, MD; Rabin Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/kos/?report=reader">Kaufman Oculocerebrofacial Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Bradbury, Kimberley, BA, MA, MBBS; Great Ormond Street Hospital for Children<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/bcl11a-id/?report=reader">BCL11A-Related Intellectual Disability</a>
|
|
</li></ul></li><li class="half_rhythm">Braden, Ruth, PhD; University of Melbourne<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/foxp1/?report=reader">FOXP1 Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Brais, Bernard, M Phil, MD, PhD; McGill University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/arsacs/?report=reader">ARSACS</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/fgf14-ataxia/?report=reader">GAA-FGF14-Related Ataxia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/opmd/?report=reader">Oculopharyngeal Muscular Dystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Bramswig, Nuria C, MD; University Hospital Münster<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/unc80-def/?report=reader">UNC80 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Brandi, Maria Luisa, MD, PhD; Italian Foundation for Research on Bone Diseases<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/men1/?report=reader">Multiple Endocrine Neoplasia Type 1</a>
|
|
</li></ul></li><li class="half_rhythm">Brand, Randall, MD; University of Pittsburgh<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/maps/?report=reader">MUTYH Polyposis</a>
|
|
</li></ul></li><li class="half_rhythm">Brandt, Vicky L; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rett/?report=reader">MECP2 Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca1/?report=reader">Spinocerebellar Ataxia Type 1</a>
|
|
</li></ul></li><li class="half_rhythm">Brashear, Allison, MD; University at Buffalo<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rapid-odp/?report=reader">ATP1A3-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Braverman, Nancy E, MD, MS; McGill University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cdp1-xlr/?report=reader">Chondrodysplasia Punctata 1, X-Linked</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/rcdp/?report=reader">Rhizomelic Chondrodysplasia Punctata Type 1</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/pbd/?report=reader">Zellweger Spectrum Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Bredrup, Cecilie, MD, PhD; Haukeland University Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/csc-dys/?report=reader">Congenital Stromal Corneal Dystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Bree, Alanna F, MD; Dermatology Specialists of Houston<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/aec/?report=reader">TP63-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Brennan, Christine, PhD; University of Colorado<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sms/?report=reader">Smith-Magenis Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Bresin, Elena, MD; Istituto di Ricerche Farmacologiche Mario Negri–IRCCS<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/husa/?report=reader">Genetic Atypical Hemolytic-Uremic Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Bressman, Susan B, MD; Columbia University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dystonia/?report=reader">DYT1 Early-Onset Isolated Dystonia</a>
|
|
</li></ul></li><li class="half_rhythm">Breuning, Martijn H, MD, PhD; Leiden University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cadasil/?report=reader">CADASIL</a>
|
|
</li></ul></li><li class="half_rhythm">Brewer, Eileen D, MD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/lowe/?report=reader">Lowe Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Brice, Alexis, MD; Hôpital Pitié-Salpêtrière<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/jpd/?report=reader">Parkin Type of Early-Onset Parkinson Disease</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/spg11/?report=reader">Spastic Paraplegia 11</a>
|
|
</li></ul></li><li class="half_rhythm">Brice, Glen W, RGN BSc (Hons); St George's, University of London<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/lds/?report=reader">Lymphedema-Distichiasis Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/milroy/?report=reader">Milroy Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Briere, Lauren, MS; Massachusetts General Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gnao1-dis/?report=reader">GNAO1-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Briggs, Michael D, PhD; Newcastle University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/psach/?report=reader">COMP-Related Pseudoachondroplasia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/edm-ad/?report=reader">Multiple Epiphyseal Dysplasia, Dominant</a>
|
|
</li></ul></li><li class="half_rhythm">Brilliant, Murray H, PhD; University of Wisconsin School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/oca4/?report=reader">Oculocutaneous Albinism Type 4</a>
|
|
</li></ul></li><li class="half_rhythm">Brisson, Jean-Denis, MD; Sherbrooke University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/accpn/?report=reader">Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum</a>
|
|
</li></ul></li><li class="half_rhythm">Broadbridge, Elizabeth, BS; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/runx1/?report=reader">RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies</a>
|
|
</li></ul></li><li class="half_rhythm">Brockmann, Knut, MD; University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/foxg1-ndd/?report=reader">FOXG1 Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Brock, Pamela, MS; The Ohio State University Comprehensive Cancer Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/men4/?report=reader">Multiple Endocrine Neoplasia Type 4</a>
|
|
</li></ul></li><li class="half_rhythm">Brock, Stefanie, MD; Universitair Ziekenhuis Brussel<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/chrom17-lis/?report=reader">PAFAH1B1-Related Lissencephaly / Subcortical Band Heterotopia</a>
|
|
</li></ul></li><li class="half_rhythm">Bronicki, Lucas, PhD; Cincinnati Children's Hospital Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/was/?report=reader">WAS-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Brooks, Brian P, MD, PhD; National Eye Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/oca-oa-ov/?report=reader">Oculocutaneous Albinism and Ocular Albinism Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Brosh, Robert M, PhD; National Institute on Aging/NIH<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/warsaw/?report=reader">Warsaw Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Brower, Cheryl L, MSPH, RN; Puget Sound Blood Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hemo-a/?report=reader">Hemophilia A</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/hemo-b/?report=reader">Hemophilia B</a>
|
|
</li></ul></li><li class="half_rhythm">Brown, Jeremy M, MD; Addenbrooke's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ftd-chmp2b/?report=reader">CHMP2B Frontotemporal Dementia</a>
|
|
</li></ul></li><li class="half_rhythm">Brown, W Ted, MD, PhD; Institute for Basic Research in Developmental Disabilities<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hgps/?report=reader">Hutchinson-Gilford Progeria Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Bruckner, Anna L, MD; University of Colorado School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ebs/?report=reader">Epidermolysis Bullosa Simplex</a>
|
|
</li></ul></li><li class="half_rhythm">Bruel, Ange-Line, PhD; University of Burgundy<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ofd1/?report=reader">Oral-Facial-Digital Syndrome Type I</a>
|
|
</li></ul></li><li class="half_rhythm">Brugada, Josep, MD, PhD; University of Barcelona<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/brugada/?report=reader">Brugada Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Brugada, Pedro, MD, PhD; Free University of Brussels<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/brugada/?report=reader">Brugada Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Brugada, Ramon, MD, PhD; University of Girona<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/brugada/?report=reader">Brugada Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Brunetti-Pierri, Nicola, MD; University of Naples "Federico II"<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cdp1-xlr/?report=reader">Chondrodysplasia Punctata 1, X-Linked</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/myhre/?report=reader">Myhre Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Brunkow, Mary E, PhD; Institute for Systems Biology<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sost/?report=reader">SOST-Related Sclerosing Bone Dysplasias</a>
|
|
</li></ul></li><li class="half_rhythm">Brunner, Han, MD, PhD; Radboud University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rob-ad/?report=reader">Autosomal Dominant Robinow Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Bruno, Claudio, MD, PhD; Gaslini Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hypo-mcc/?report=reader">Hypomyelination and Congenital Cataract</a>
|
|
</li></ul></li><li class="half_rhythm">Brunzell, John D, MD; University of Washington School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/lpl/?report=reader">Familial Lipoprotein Lipase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Brusco, Alfredo, PhD; University of Turin<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca28/?report=reader">Spinocerebellar Ataxia Type 28</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca38/?report=reader">Spinocerebellar Ataxia Type 38</a>
|
|
</li></ul></li><li class="half_rhythm">Brussino, Alessandro, MD; University of Turin<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca28/?report=reader">Spinocerebellar Ataxia Type 28</a>
|
|
</li></ul></li><li class="half_rhythm">Bryant, Laura, PhD; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/brylib/?report=reader">Bryant-Li-Bhoj Neurodevelopmental Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Bryceson, Yenan, PhD; Karolinska Institutet<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hlh/?report=reader">Familial Hemophagocytic Lymphohistiocytosis</a>
|
|
</li></ul></li><li class="half_rhythm">Brzezinski, Jack, MD, PhD; Hospital for Sick Children<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/wilms-ov/?report=reader">Wilms Tumor Predisposition</a>
|
|
</li></ul></li><li class="half_rhythm">Brüggemann, Norbert, MD; University of Lübeck<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/jpd/?report=reader">Parkin Type of Early-Onset Parkinson Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Buck, Cassandra, MS; Massachusetts General Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/kms/?report=reader">Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Buckley, Michael Francis, MB ChB, PhD; Prince of Wales Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/vodi/?report=reader">Hepatic Veno-Occlusive Disease with Immunodeficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Bull, Laura N, PhD; University of California, San Francisco<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pfic/?report=reader">ATP8B1 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Bupp, Caleb, MD; Spectrum Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bachmann-bupp/?report=reader">Bachmann-Bupp Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Burgmaier, Kathrin, MD; University of Cologne<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pkd-ar/?report=reader">Autosomal Recessive Polycystic Kidney Disease – PKHD1</a>
|
|
</li></ul></li><li class="half_rhythm">Burkardt, Deepika, DO; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/h1-4/?report=reader">HIST1H1E Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Burke, Wylie, MD, PhD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/brca1/?report=reader">BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer</a>
|
|
</li></ul></li><li class="half_rhythm">Burnett, John R, MB ChB, MD, PhD; University of Western Australia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ab-lipo-p/?report=reader">Abetalipoproteinemia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/apob-hbl/?report=reader">APOB-Related Familial Hypobetalipoproteinemia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/cmr/?report=reader">Chylomicron Retention Disease</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/fch/?report=reader">Familial Combined Hypolipidemia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/lpl/?report=reader">Familial Lipoprotein Lipase Deficiency</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/tangier/?report=reader">Tangier Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Burrage, Lindsay, MD, PhD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tango2-mea/?report=reader">TANGO2 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Burr, Amanda, MS; Casey Eye Institute / Oregon Health & Science University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rpe65-lca/?report=reader">RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Burrell, T Lindsey, PhD; Emory University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mdel3q29/?report=reader">3q29 Recurrent Deletion</a>
|
|
</li></ul></li><li class="half_rhythm">Burt, Randall W, MD; Huntsman Cancer Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/fap/?report=reader">APC-Associated Polyposis Conditions</a>
|
|
</li></ul></li><li class="half_rhythm">Bushby, Katharine Mary, MB ChB, MD; University of Newcastle upon Tyne<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bethlem/?report=reader">Collagen VI-Related Dystrophies</a>
|
|
</li></ul></li><li class="half_rhythm">Busra, Aynekin, PhD; University College London<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/wars2-def/?report=reader">WARS2 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Butler-Browne, Gillian, PhD; Centre de Recherche en Myologie<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/opmd/?report=reader">Oculopharyngeal Muscular Dystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Byers, Peter H, MD; University of Washington Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/oi/?report=reader">COL1A1/2 Osteogenesis Imperfecta</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/eds4/?report=reader">Vascular Ehlers-Danlos Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Böckenhauer, Detlef, MD, PhD; University Hospitals Leuven<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/rickets-xlh/?report=reader">X-Linked Hypophosphatemia</a>
|
|
</li></ul></li><li class="half_rhythm">Bönnemann, Carsten G, MD; National Institute of Neurological Disorders and Stroke<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bethlem/?report=reader">Collagen VI-Related Dystrophies</a>
|
|
</li></ul></li></ul></div><div id="IX-C"><div class="h2"></div><ul class="simple-list"><li class="half_rhythm">Cabalza, Jessica L; George Washington University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ssadh/?report=reader">Succinic Semialdehyde Dehydrogenase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Cabanillas, Maria E, MD; University of Texas MD Anderson Cancer Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hrpt2/?report=reader">CDC73-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Caggana, Michele, ScD; Wadsworth Center - New York State Department of Health<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/krabbe/?report=reader">Krabbe Disease</a>
|
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</li></ul></li><li class="half_rhythm">Calame, Daniel, MD, PhD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/entpd1-ndd/?report=reader">ENTPD1-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Caldovic, Ljubica, PhD; Children's National Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/otc-def/?report=reader">Ornithine Transcarbamylase Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Cali, Elisa, MD; UCL Queen Square Institute of Neurology<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/riboflavin-tn/?report=reader">Riboflavin Transporter Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Callewaert, Bert L, MD, PhD; Ghent University Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/arterial-t/?report=reader">Arterial Tortuosity Syndrome</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/cca/?report=reader">Congenital Contractural Arachnodactyly</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/eln-cutis-laxa/?report=reader">ELN-Related Cutis Laxa</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/ltbp4-cutis-laxa/?report=reader">LTBP4-Related Cutis Laxa</a>
|
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</li></ul></li><li class="half_rhythm">Calvert, Guy, DPhil; Dup15q Alliance<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/dup15q/?report=reader">Maternal 15q Duplication Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Camacho, Jose A, MD; University of California, Irvine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hhhs/?report=reader">Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Camaschella, Clara, MD; Istituto Scientifico San Raffaele<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/tfr2/?report=reader">TFR2-Related Hemochromatosis</a>
|
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</li></ul></li><li class="half_rhythm">Campeau, Philippe M, MD; Sainte-Justine Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/kat6b-dis/?report=reader">KAT6B Disorders</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/smdcf/?report=reader">Spondylometaphyseal Dysplasia, Corner Fracture Type</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/tbc1d24-dis/?report=reader">TBC1D24-Related Disorders</a>
|
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</li></ul></li><li class="half_rhythm">Campuzano, Oscar, PhD; University of Girona<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/brugada/?report=reader">Brugada Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Cao, Antonio, MD; Consiglio Nazionale delle Ricerche<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/a-thal/?report=reader">Alpha-Thalassemia</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/b-thal/?report=reader">Beta-Thalassemia</a>
|
|
</li></ul></li><li class="half_rhythm">Capece, Tara; University of Pittsburgh<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/zap70-scid/?report=reader">ZAP70-Related Combined Immunodeficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Capp, Philip K; George Washington University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ssadh/?report=reader">Succinic Semialdehyde Dehydrogenase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Caprioli, Jessica, Biol Sci D; IRCCS – Istituto di Ricerche Farmacologiche Mario Negri<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/husa/?report=reader">Genetic Atypical Hemolytic-Uremic Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Caputi, Caterina, MD; Sapienza Università di Roma<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/me-ataxia/?report=reader">PRICKLE1-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Carey, Catherine, MD; Torbay Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alstrom/?report=reader">Alstrom Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Cario, Holger, MD; University Medical Center Ulm<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pfcp/?report=reader">Primary Familial and Congenital Erythrocytosis</a>
|
|
</li></ul></li><li class="half_rhythm">Carlberg, Katie, MD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sickle/?report=reader">Sickle Cell Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Carlo, Maria I, MD; Memorial Sloan Kettering Cancer Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bap1-tpds/?report=reader">BAP1 Tumor Predisposition Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Carmignac, Virginie, PhD; Université de Bourgogne<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/salih-myo/?report=reader">Salih Myopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Caron, Nicholas S, PhD; University of British Columbia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/huntington/?report=reader">Huntington Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Carr, Ann, MS; Westat<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pp-blastoma/?report=reader">DICER1 Tumor Predisposition</a>
|
|
</li></ul></li><li class="half_rhythm">Carrillo, Nuria, MD; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cbl/?report=reader">Disorders of Intracellular Cobalamin Metabolism</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ibm/?report=reader">GNE Myopathy</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/propionic-a/?report=reader">Propionic Acidemia</a>
|
|
</li></ul></li><li class="half_rhythm">Carson, Vincent J, MD; Clinic for Special Children<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/msud/?report=reader">Maple Syrup Urine Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Carter, Melissa T, MD, MSc; The Children’s Hospital of Eastern Ontario<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/miccap-ms/?report=reader">Microcephaly-Capillary Malformation Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/lms/?report=reader">NOTCH3-Related Lateral Meningocele Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Carvalho, Luciani Renata, MD, PhD; Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/prop1/?report=reader">PROP1-Related Combined Pituitary Hormone Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Carvill, Gemma, PhD; Northwestern University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/chd2-dis/?report=reader">CHD2-Related Neurodevelopmental Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/kcnt1-epilepsy/?report=reader">KCNT1-Related Epilepsy</a>
|
|
</li></ul></li><li class="half_rhythm">Casari, Giorgio, PhD; San Raffaele University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/spg7/?report=reader">Spastic Paraplegia 7</a>
|
|
</li></ul></li><li class="half_rhythm">Casey, Hannah L, BS; University of Chicago<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca6/?report=reader">Spinocerebellar Ataxia Type 6</a>
|
|
</li></ul></li><li class="half_rhythm">Cassidy, Suzanne B, MD; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pws/?report=reader">Prader-Willi Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Cathey, Sara S, MD; Greenwood Genetic Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ml2/?report=reader">GNPTAB-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Caudill, Marissa; University of Connecticut Health Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/kms/?report=reader">Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Cavallin, Mara, MD; Paris Descartes University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tubulin-ov/?report=reader">Tubulinopathies Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Cebulla, Colleen, MD, PhD; The Ohio State University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bap1-tpds/?report=reader">BAP1 Tumor Predisposition Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Cecchi, Alana C, MS; University of Texas Health Science Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/taa/?report=reader">Heritable Thoracic Aortic Disease Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Cederbaum, Stephen, MD; UCLA Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/arg1/?report=reader">Arginase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Chaix, Charlène; La Timone Children’s Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sd-thes/?report=reader">Trichohepatoenteric Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Chamberlain, Stormy, PhD; University of Connecticut Health Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dup15q/?report=reader">Maternal 15q Duplication Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Chamova, Teodora, MD, PhD; Medical University of Sofia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ccfdn/?report=reader">CTDP1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy</a>
|
|
</li></ul></li><li class="half_rhythm">Chander, Varuna, MS; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/xia-gibbs/?report=reader">Xia-Gibbs Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Chandra, Sharat, MD; Cincinnati Children's Hospital Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/was/?report=reader">WAS-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Chang, Irene J, MD, MSc; University of California at San Francisco<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mcad/?report=reader">Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Chanprasert, Sirisak, MD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tk2-mtddepl/?report=reader">TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form</a>
|
|
</li></ul></li><li class="half_rhythm">Chansky, Howard A, MD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ext/?report=reader">Hereditary Multiple Osteochondromas</a>
|
|
</li></ul></li><li class="half_rhythm">Chan, Sophelia HS, MD; University of Hong Kong<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/chkb-md/?report=reader">CHKB-Related Muscular Dystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Chao, Daniel L, MD, PhD; Shiley Eye Institute / UCSD<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rpe65-lca/?report=reader">RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Chapman, Kimberly A, MD, PhD; Children's National Health System<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ucd-overview/?report=reader">Urea Cycle Disorders Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Charles, Jane, MD; Medical University of South Carolina<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sms/?report=reader">Smith-Magenis Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Chaussenot, Annabelle, MD; Nice Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/chchd10-dis/?report=reader">CHCHD10-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Chelban, Viorica, MD; University College London Institute of Neurology<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/nkx6-2-spax/?report=reader">NKX6-2-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Chen, Dong-Hui, MD, PhD; University of Washington Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/samd9l-ap/?report=reader">SAMD9L Ataxia-Pancytopenia Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca14/?report=reader">Spinocerebellar Ataxia Type 14</a>
|
|
</li></ul></li><li class="half_rhythm">Cheng, Edith, MD, MS; University of Washington School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cf/?report=reader">Cystic Fibrosis</a>
|
|
</li></ul></li><li class="half_rhythm">Cheng, Shirley SW, MD; Hong Kong Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ctnnb1-ndd/?report=reader">CTNNB1 Neurodevelopmental Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/fam111a-dysp/?report=reader">FAM111A-Related Skeletal Dysplasias</a>
|
|
</li></ul></li><li class="half_rhythm">Chen, I-Ping, DDS, MS; UConn Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cranio-md/?report=reader">Craniometaphyseal Dysplasia, Autosomal Dominant</a>
|
|
</li></ul></li><li class="half_rhythm">Chen, Karin, MD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/x-scid/?report=reader">X-Linked Severe Combined Immunodeficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Chen, Marcus, MD; National Heart, Lung, and Blood Institute - NIH<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alkap/?report=reader">Alkaptonuria</a>
|
|
</li></ul></li><li class="half_rhythm">Chen, Ming Hui, MD, MMSc; Boston Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/x-pvh/?report=reader">FLNA Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Chen, Xin, PhD; University of Texas Southwestern Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/agu/?report=reader">Aspartylglucosaminuria</a>
|
|
</li></ul></li><li class="half_rhythm">Chen, Yuan-Tsong, MD, PhD; Duke University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gsd1/?report=reader">Glycogen Storage Disease Type I</a>
|
|
</li></ul></li><li class="half_rhythm">Chen, Zhongbo, BM BCh, MA; UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca11/?report=reader">Spinocerebellar Ataxia Type 11</a>
|
|
</li></ul></li><li class="half_rhythm">Cheung, Sau Wai, MBA, PhD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/xq28-dup/?report=reader">Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated</a>
|
|
</li></ul></li><li class="half_rhythm">Chew, Ben H, MD, MSc; University of Columbia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ph1/?report=reader">Primary Hyperoxaluria Type 1</a>
|
|
</li></ul></li><li class="half_rhythm">Chinnery, Patrick F, BMedSci, MBBS, PhD; University of Cambridge<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hmerf/?report=reader">Hereditary Myopathy with Early Respiratory Failure</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/lhon/?report=reader">Leber Hereditary Optic Neuropathy</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/neuroferritin/?report=reader">Neuroferritinopathy</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/alpers/?report=reader">POLG-Related Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/mt-overview/?report=reader">Primary Mitochondrial Disorders Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Chiplunkar, Shwetha, MBBS; National Institute of Mental Health & Neurosciences<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/huppke-brendel/?report=reader">Huppke-Brendel Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Chiquet, Brett, DDS, PhD; UTHealth School of Dentistry at Houston<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/tooth-agenesis-ov/?report=reader">Nonsyndromic Tooth Agenesis Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Chitayat, David, MD; Mount Sinai Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/rob-ad/?report=reader">Autosomal Dominant Robinow Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ppp1r12a-ubm/?report=reader">PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/warsaw/?report=reader">Warsaw Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Chmiela, Tomasz, MD; Mayo Clinic<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/aars2-dis/?report=reader">AARS2-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Chmiel, James F, MD; Case Western Reserve University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cf/?report=reader">Cystic Fibrosis</a>
|
|
</li></ul></li><li class="half_rhythm">Chopra, Maya, MBBS; Boston Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ankrd17-nds/?report=reader">ANKRD17-Related Neurodevelopmental Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Chou, Stella T, MD; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gata1/?report=reader">GATA1-Related Cytopenia</a>
|
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</li></ul></li><li class="half_rhythm">Chrestian, Nicolas, MD; CHU Laval–CHU de Québec<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hnpp/?report=reader">Hereditary Neuropathy with Liability to Pressure Palsies</a>
|
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</li></ul></li><li class="half_rhythm">Christiaans, Imke, MD, PhD; University Medical Center Groningen<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/rws/?report=reader">Long QT Syndrome Overview</a>
|
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</li></ul></li><li class="half_rhythm">Christodoulou, John, MBBS, PhD; Murdoch Children's Research Institute<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/fum/?report=reader">Fumarate Hydratase Deficiency</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/rett/?report=reader">MECP2 Disorders</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/arts/?report=reader">Phosphoribosylpyrophosphate Synthetase Deficiency</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/prs/?report=reader">Phosphoribosylpyrophosphate Synthetase Superactivity</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/ss-def/?report=reader">Squalene Synthase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Chrzanowska, Krystyna H, MD, PhD; The Children's Memorial Health Institute<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/nijmegen/?report=reader">Nijmegen Breakage Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Chudley, Albert E, MD; University of Manitoba<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mota/?report=reader">FREM1 Autosomal Recessive Disorders </a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/ritscher-schinzel/?report=reader">Ritscher-Schinzel Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Chung, Brian HY, MD; University of Hong Kong<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ctnnb1-ndd/?report=reader">CTNNB1 Neurodevelopmental Disorder</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/mn1-ctt/?report=reader">MN1 C-Terminal Truncation Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Chung, Wendy K, MD, PhD; Boston Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/del16p11_2/?report=reader">16p11.2 Recurrent Deletion</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/okur-chung/?report=reader">Okur-Chung Neurodevelopmental Syndrome</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/pacs1-ndd/?report=reader">PACS1 Neurodevelopmental Disorder</a>
|
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</li><li class="half_rhythm">
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<a href="/books/n/gene/ppp2r5d-dis/?report=reader">PPP2R5D-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Churpek, Jane E, MD, MS; University of Wisconsin School of Medicine and Public Health<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ddx41-mds/?report=reader">DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia</a>
|
|
</li></ul></li><li class="half_rhythm">Ciapaite, Jolita, PhD; University Medical Center Utrecht<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/plpbp-def/?report=reader">PLPBP Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Cimino, Theora, BS; University of California San Francisco<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hcp/?report=reader">Hereditary Coproporphyria</a>
|
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</li></ul></li><li class="half_rhythm">Cirino, Allison L, MS; Brigham and Women's Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hyper-card/?report=reader">Hypertrophic Cardiomyopathy Overview</a>
|
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</li></ul></li><li class="half_rhythm">Clark, Dinah M, MS; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cdls/?report=reader">Cornelia de Lange Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Clarke, Lorne A, MD; University of British Columbia<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mps1/?report=reader">Mucopolysaccharidosis Type I</a>
|
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</li></ul></li><li class="half_rhythm">Clarke, Shoa L, MD, PhD; Stanford University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hyperchol/?report=reader">Familial Hypercholesterolemia</a>
|
|
</li></ul></li><li class="half_rhythm">Clayton, Peter T, MD; UCL Great Ormond Street Institute of Child Health<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hmdpc/?report=reader">Hypermanganesemia with Dystonia 1</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/slc39a14-def/?report=reader">SLC39A14 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Cleary, John Douglas, PhD; University of Florida<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/sca8/?report=reader">Spinocerebellar Ataxia Type 8</a>
|
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</li></ul></li><li class="half_rhythm">Clericuzio, Carol, MD; University of New Mexico Health Sciences Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/poikiloderma-n/?report=reader">Poikiloderma with Neutropenia</a>
|
|
</li></ul></li><li class="half_rhythm">Cleveland, Don W, PhD; University of California San Diego<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/iahsp/?report=reader">ALS2-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Clinton, Catherine, MS; Boston Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/diamond-b/?report=reader">Diamond-Blackfan Anemia</a>
|
|
</li></ul></li><li class="half_rhythm">Coe, Bradley P, PhD; University of Washington School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dyrk1a-id/?report=reader">DYRK1A Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Coelho, Teresa, MD, PhD; Centro Hospitalar Universitário do Porto<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mdef-cmd/?report=reader">LAMA2 Muscular Dystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Cogal, Andrea G, BS; Mayo Clinic<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dent/?report=reader">Dent Disease</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ph1/?report=reader">Primary Hyperoxaluria Type 1</a>
|
|
</li></ul></li><li class="half_rhythm">Cohen, Bruce H, MD; Northeast Ohio Medical University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alpers/?report=reader">POLG-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Cohn, Daniel H, PhD; Cedars-Sinai Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/psach/?report=reader">COMP-Related Pseudoachondroplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Colding-Jørgensen, Eskild, MD; University of Copenhagen<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/myotonia-c/?report=reader">Myotonia Congenita</a>
|
|
</li></ul></li><li class="half_rhythm">Cole, Trevor RP, MB ChB; Birmingham Women's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sotos/?report=reader">Sotos Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Collins, Debra L, MS; University of Kansas Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/vhl/?report=reader">Von Hippel-Lindau Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Collins, Francis S, MD, PhD; National Institutes of Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hgps/?report=reader">Hutchinson-Gilford Progeria Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Collins, Michael T, MD; National Institute of Dental and Craniofacial Research<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mccune-albright/?report=reader">Fibrous Dysplasia / McCune-Albright Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/hyper-ftc/?report=reader">Hyperphosphatemic Familial Tumoral Calcinosis</a>
|
|
</li></ul></li><li class="half_rhythm">Colombo, Sophie, MS, PhD; Columbia University Irving Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gnb1-e/?report=reader">GNB1 Encephalopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Coman, David, MBBS; Queensland Children’s Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/fum/?report=reader">Fumarate Hydratase Deficiency</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ss-def/?report=reader">Squalene Synthase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Conant, Alex, BS; Children’s National Health System<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pmld1/?report=reader">Pelizaeus-Merzbacher-Like Disease 1</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/tubb4a-leuk/?report=reader">TUBB4A-Related Leukodystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Concannon, Patrick J, PhD; University of Virginia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/nijmegen/?report=reader">Nijmegen Breakage Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Concolino, Daniela, MD; University "Magna Graecia"<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/poikiloderma-n/?report=reader">Poikiloderma with Neutropenia</a>
|
|
</li></ul></li><li class="half_rhythm">Conley, Mary Ellen, MD; University of Tennessee<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/xla/?report=reader">X-Linked Agammaglobulinemia</a>
|
|
</li></ul></li><li class="half_rhythm">Connell, Fiona; Guy's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/milroy/?report=reader">Milroy Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Connor, Jessica A, MS; Counsyl, Inc<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/epb42-spherocytosis/?report=reader">EPB42-Related Hereditary Spherocytosis</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/vlcad/?report=reader">Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Conta, Jessie, MS; Seattle Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mws/?report=reader">Mowat-Wilson Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Conway, Gerard S, MD; University College London<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/perrault/?report=reader">Perrault Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Conway, Robert, MD; Wayne State University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pik3ca-overgrowth/?report=reader">PIK3CA-Related Overgrowth Spectrum</a>
|
|
</li></ul></li><li class="half_rhythm">Cook Shukla, Lola, MS; Indiana University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/parkinson-overview/?report=reader">Parkinson Disease Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Cook, Edwin H, MD; University of Illinois at Chicago<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mdel3q29/?report=reader">3q29 Recurrent Deletion</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/dup15q/?report=reader">Maternal 15q Duplication Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Cook, Jared F, MA; Wake Forest School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rapid-odp/?report=reader">ATP1A3-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Cooley Coleman, Jessica, PhD; Greenwood Genetic Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mef2c-dis/?report=reader">MEF2C-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Cooper, Edward C, MD, PhD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bfns/?report=reader">KCNQ2-Related Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/kcnq3-dis/?report=reader">KCNQ3-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Cooper, Megan, MD, PhD; Washington University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sgpl1/?report=reader">Sphingosine Phosphate Lyase Insufficiency Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Copeland, William C, PhD; National Institute of Environmental Health Sciences<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alpers/?report=reader">POLG-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Coppola, Antonietta, MD, PhD; Federico II University of Naples<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dync1h1-dis/?report=reader">DYNC1H1-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Coppola, Giangennaro, MD; University of Salerno<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bfns/?report=reader">KCNQ2-Related Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/kcnq3-dis/?report=reader">KCNQ3-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Coppola, Giovanni, MD; University of California Los Angeles<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bgc/?report=reader">Primary Familial Brain Calcification</a>
|
|
</li></ul></li><li class="half_rhythm">Coppola, Stephanie, BS; Jefferson Medical College<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/krabbe/?report=reader">Krabbe Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Corces, Victor, PhD; Emory University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ctcf-dis/?report=reader">CTCF-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Cormier-Daire, Valérie, MD, PhD; Paris Cité University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/geleophys-dysp/?report=reader">Geleophysic Dysplasia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/weill-ms/?report=reader">Weill-Marchesani Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Correa, Fernanda Azevedo, MD; Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/prop1/?report=reader">PROP1-Related Combined Pituitary Hormone Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Cortese, Andrea, MD, PhD; University College London<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rfc1-canvas/?report=reader">RFC1 CANVAS / Spectrum Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Coryell, Jason, MS; Oregon Health and Science University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pkan/?report=reader">Pantothenate Kinase-Associated Neurodegeneration</a>
|
|
</li></ul></li><li class="half_rhythm">Coucke, Paul, MD, PhD; Ghent University Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/arterial-t/?report=reader">Arterial Tortuosity Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Coughlin, Curtis, MS; University of Colorado School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/nkh/?report=reader">Nonketotic Hyperglycinemia</a>
|
|
</li></ul></li><li class="half_rhythm">Couillard-Despres, Sebastien, PhD; Paracelsus Medical University Salzburg<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dcx/?report=reader">DCX-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Coulter-Mackie, Marion B, PhD; British Columbia's Children's and Women's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ph1/?report=reader">Primary Hyperoxaluria Type 1</a>
|
|
</li></ul></li><li class="half_rhythm">Cowan, Jason, MS; University of Miami Miller School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dcm-lmna/?report=reader">LMNA-Related Dilated Cardiomyopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Cox, Diane W, PhD; University of Alberta<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alpha1-a/?report=reader">Alpha-1 Antitrypsin Deficiency</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/wilson/?report=reader">Wilson Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Cragun, Deborah, MS; University of Tampa<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/abs/?report=reader">Cytochrome P450 Oxidoreductase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Craigen, William J, MD, PhD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mtdna-md-ov/?report=reader">Mitochondrial DNA Maintenance Defects Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/mpv17-mtdep/?report=reader">MPV17-Related Hepatocerebral Mitochondrial DNA Maintenance Defect</a>
|
|
</li></ul></li><li class="half_rhythm">Crino, Peter B, BA, MD, PhD; University of Maryland School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/kptn-dis/?report=reader">KPTN-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Crombez, Eric A, MD; Ultragenyx Pharmaceutical Inc<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/arg1/?report=reader">Arginase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Crosby, Andrew H, BSc, PhD; University of Exeter Medical School<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hyal2-def/?report=reader">HYAL2 Deficiency</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/kptn-dis/?report=reader">KPTN-Related Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/pi4ka/?report=reader">PI4KA-Related Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/spg20/?report=reader">Troyer Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Crowley, Leon, MSc; King's College London<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tardbp-als/?report=reader">TARDBP-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementia</a>
|
|
</li></ul></li><li class="half_rhythm">Crowley, William F, MD; Massachusetts General Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/kms/?report=reader">Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Crow, Yanick J, BMedSci, MBBS, PhD; Central Manchester Foundation Trust University Hospitals<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ags/?report=reader">Aicardi-Goutieres Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Cruts, Marc, PhD; University of Antwerp<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/als-ftd/?report=reader">C9orf72-Related Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia</a>
|
|
</li></ul></li><li class="half_rhythm">Cruz Corchado, Johnny; University of Iowa<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mpgn/?report=reader">C3 Glomerulopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Cruz, Vincent, MD, MS; DDC Clinic – Center for Special Needs Children<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gm3-def/?report=reader">GM3 Synthase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Cubells, Joseph F, MD, PhD; Emory University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mdel3q29/?report=reader">3q29 Recurrent Deletion</a>
|
|
</li></ul></li><li class="half_rhythm">Cudrici, Cornelia, MD; National Heart, Lung and Blood Institute<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/traps/?report=reader">TNF Receptor-Associated Periodic Fever Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Culver, Julie O Bars, MS; Fred Hutchinson Cancer Research Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/brca1/?report=reader">BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer</a>
|
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</li></ul></li><li class="half_rhythm">Culver, Kathy, MS; Sutter Pacific Medical Foundation/California Pacific Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/sgbs/?report=reader">Simpson-Golabi-Behmel Syndrome Type 1</a>
|
|
</li></ul></li><li class="half_rhythm">Cunniff, Christopher M, MD; Weill Cornell Medical College<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/bloom/?report=reader">Bloom Syndrome</a>
|
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</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/slo/?report=reader">Smith-Lemli-Opitz Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Cunningham, Lea, MD; National Cancer Institute<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/runx1/?report=reader">RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies</a>
|
|
</li></ul></li><li class="half_rhythm">Cunningham, Michael L, MD, PhD; University of Washington Schools of Medicine and Dentistry<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/scs/?report=reader">Saethre-Chotzen Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Curiel, Julian, BS; Children’s National Health System<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/tubb4a-leuk/?report=reader">TUBB4A-Related Leukodystrophy</a>
|
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</li></ul></li><li class="half_rhythm">Cutting, Garry R, MD; Johns Hopkins University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cf/?report=reader">Cystic Fibrosis</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/td/?report=reader">Thanatophoric Dysplasia</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/tcs/?report=reader">Treacher Collins Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Córdova, Lilian, MD; University of British Columbia<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hgc/?report=reader">Diffuse Gastric and Lobular Breast Cancer Syndrome</a>
|
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</li></ul></li></ul></div><div id="IX-D"><div class="h2"></div><ul class="simple-list"><li class="half_rhythm">D'Adamo, Maria Cristina, PhD; University of Malta<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ea1/?report=reader">Episodic Ataxia Type 1</a>
|
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</li></ul></li><li class="half_rhythm">D'Andrea, Alan, MD; Dana Farber Cancer Institute<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/fa/?report=reader">Fanconi Anemia</a>
|
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</li></ul></li><li class="half_rhythm">Da Silva, Jorge Diogo, MD, PhD; Santo Antonio University Hospital Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/evc/?report=reader">Ellis-van Creveld Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Dafsari, Hormos Salimi, MD; University of Cologne<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/dync1h1-dis/?report=reader">DYNC1H1-Related Disorders</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/epg5/?report=reader">EPG5-Related Disorder</a>
|
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</li></ul></li><li class="half_rhythm">Dagli, Aditi I, MD; Orlando Health Arnold Palmer Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/angelman/?report=reader">Angelman Syndrome</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/gsd3/?report=reader">Glycogen Storage Disease Type III</a>
|
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</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/gsd6/?report=reader">Glycogen Storage Disease Type VI</a>
|
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</li></ul></li><li class="half_rhythm">Daiger, Stephen P, PhD; University of Texas Health Science Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rp-overview/?report=reader">Nonsyndromic Retinitis Pigmentosa Overview</a>
|
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</li></ul></li><li class="half_rhythm">Dai, Hongzheng, PhD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/fbxl4-mtddepl/?report=reader">FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/mpv17-mtdep/?report=reader">MPV17-Related Hepatocerebral Mitochondrial DNA Maintenance Defect</a>
|
|
</li></ul></li><li class="half_rhythm">Dalal, Ashwin, MD; Centre for DNA Fingerprinting and Diagnostics<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ppr-dysp/?report=reader">Progressive Pseudorheumatoid Dysplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Dale, David C, MD; University of Washington Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cyclic-n/?report=reader">ELANE-Related Neutropenia</a>
|
|
</li></ul></li><li class="half_rhythm">Daley, Shane M, MD; Mayo Clinic<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/jln/?report=reader">Jervell and Lange-Nielsen Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Dalton, Joline C, MS; Institute of Human Genetics<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/myotonic-d2/?report=reader">Myotonic Dystrophy Type 2</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca8/?report=reader">Spinocerebellar Ataxia Type 8</a>
|
|
</li></ul></li><li class="half_rhythm">Daly, Mary B, MD, PhD; Fox Chase Cancer Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/brca1/?report=reader">BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer</a>
|
|
</li></ul></li><li class="half_rhythm">Danek, Adrian, MD; Ludwig-Maximilians-Universität<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mcleod/?report=reader">McLeod Neuroacanthocytosis Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/chac/?report=reader">VPS13A Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Danzi, Matt, PhD; University of Miami Miller School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/fgf14-ataxia/?report=reader">GAA-FGF14-Related Ataxia</a>
|
|
</li></ul></li><li class="half_rhythm">Darras, Basil T, MD; Boston Children's Hospital / Harvard Medical School<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dbmd/?report=reader">Dystrophinopathies</a>
|
|
</li></ul></li><li class="half_rhythm">Das, Soma, PhD; University of Chicago<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/chrom17-lis/?report=reader">PAFAH1B1-Related Lissencephaly / Subcortical Band Heterotopia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/mtm/?report=reader">X-Linked Myotubular Myopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Davenport, Sandra LH, MD; Sensory Genetics and Neurodevelopment<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/charge/?report=reader">CHD7 Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Davies, Alexandra K, PhD; University of Cambridge<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ap4-def/?report=reader">AP-4-Associated Hereditary Spastic Paraplegia</a>
|
|
</li></ul></li><li class="half_rhythm">Davis, Joie; NIH<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/higes/?report=reader">STAT3 Hyper IgE Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/x-scid/?report=reader">X-Linked Severe Combined Immunodeficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Day, John W, MD, PhD; Stanford University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/myotonic-d2/?report=reader">Myotonic Dystrophy Type 2</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca8/?report=reader">Spinocerebellar Ataxia Type 8</a>
|
|
</li></ul></li><li class="half_rhythm">Dazzo, Emanuela, PhD; CNR Institute of Neuroscience<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/peaf/?report=reader">Autosomal Dominant Epilepsy with Auditory Features</a>
|
|
</li></ul></li><li class="half_rhythm">De Baere, Elfride, MD, PhD; Ghent University Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bpes/?report=reader">Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">de Boer, Irene, MD; Leiden University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rvcl/?report=reader">Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations</a>
|
|
</li></ul></li><li class="half_rhythm">de Brouwer, Arjan PM, PhD; Radboud University Nijmegen Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/clpb-def/?report=reader">CLPB Deficiency</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/feingold/?report=reader">Feingold Syndrome 1</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/arts/?report=reader">Phosphoribosylpyrophosphate Synthetase Deficiency</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/prs/?report=reader">Phosphoribosylpyrophosphate Synthetase Superactivity</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/megdel/?report=reader">SERAC1 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">De Camilli, Pietro, PhD; Yale University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/chac/?report=reader">VPS13A Disease</a>
|
|
</li></ul></li><li class="half_rhythm">de Castro, Luis F, PhD; National Institute of Dental and Craniofacial Research/NIH<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mccune-albright/?report=reader">Fibrous Dysplasia / McCune-Albright Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">De Castro, Mauricio, MD; Keesler Air Force Base<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/m-sulfatase-def/?report=reader">Multiple Sulfatase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">De Gobbi, Marco, MD, PhD; University of Torino<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tfr2/?report=reader">TFR2-Related Hemochromatosis</a>
|
|
</li></ul></li><li class="half_rhythm">de Graaff, Laura CG, MD, PhD; Erasmus Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/prop1/?report=reader">PROP1-Related Combined Pituitary Hormone Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">de Koning, Tom J, MD, PhD; Lund University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/serine-def/?report=reader">Serine Deficiency Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">de la Morena, M Teresa, MD; Seattle Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/xlhi/?report=reader">X-Linked Hyper IgM Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">de Leeuw, Nicole, PhD; Radboud University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/kleefstra/?report=reader">Kleefstra Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">De Leon, Deborah, MS; Columbia University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dystonia/?report=reader">DYT1 Early-Onset Isolated Dystonia</a>
|
|
</li></ul></li><li class="half_rhythm">De León, Diva D, MD; University of Pennsylvania<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dmn/?report=reader">Permanent Neonatal Diabetes Mellitus</a>
|
|
</li></ul></li><li class="half_rhythm">De Paepe, Anne, MD, PhD; Ghent University Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/arterial-t/?report=reader">Arterial Tortuosity Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/eds/?report=reader">Classic Ehlers-Danlos Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/efemp2-cutis-laxa/?report=reader">EFEMP2-Related Cutis Laxa</a>
|
|
</li></ul></li><li class="half_rhythm">de Valles-Ibáñez, Guillem, BSc, MSc, PhD; University of Otago<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gnb5-ndd/?report=reader">GNB5-Related Neurodevelopmental Disorder </a>
|
|
</li></ul></li><li class="half_rhythm">de Vernejoul, Marie-Christine, MD, PhD; Hopital Lariboisiere<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/clcn7/?report=reader">CLCN7-Related Osteopetrosis</a>
|
|
</li></ul></li><li class="half_rhythm">De Vivo, Darryl, MD; Columbia University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/glut1/?report=reader">Glucose Transporter Type 1 Deficiency Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/pdc/?report=reader">Pyruvate Carboxylase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">De Voer, Richarda M, PhD; Radboud University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/nthl1-ts/?report=reader">NTHL1 Tumor Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">de Vries, Bert BA, MD, PhD; Radboud University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mdel15q13_3/?report=reader">15q13.3 Recurrent Deletion</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/dyrk1a-id/?report=reader">DYRK1A Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/gabriele-devries/?report=reader">Gabriele-de Vries Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/mdel17q21_31/?report=reader">Koolen-de Vries Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/trio-id/?report=reader">TRIO-Related Neurodevelopmental Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/wac-id/?report=reader">WAC-Related Intellectual Disability</a>
|
|
</li></ul></li><li class="half_rhythm">Deardorff, Matthew A, MD, PhD; Children's Hospital Los Angeles<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/coffin-siris/?report=reader">Coffin-Siris Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/cdls/?report=reader">Cornelia de Lange Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/image/?report=reader">IMAGe Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/wdr26-id/?report=reader">WDR26-Related Intellectual Disability</a>
|
|
</li></ul></li><li class="half_rhythm">DeFelice, Magee, MD; Nemours Children's Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rnu4atac-dis/?report=reader">RNU4atac-opathy</a>
|
|
</li></ul></li><li class="half_rhythm">Dehghani, Seyed Mohsen, MD, MPH; Shiraz University of Medical Sciences<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tyrosinemia-2/?report=reader">Tyrosinemia Type II</a>
|
|
</li></ul></li><li class="half_rhythm">Dehner, Louis P; Washington University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pp-blastoma/?report=reader">DICER1 Tumor Predisposition</a>
|
|
</li></ul></li><li class="half_rhythm">del Gaudio, Daniela, PhD; University of Chicago<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mody-ov/?report=reader">Maturity-Onset Diabetes of the Young Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Delatycki, Martin B, MBBS, PhD; Murdoch Childrens Research Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/friedreich/?report=reader">Friedreich Ataxia</a>
|
|
</li></ul></li><li class="half_rhythm">Delgado, Lisvania, BS; University of Texas - Medical Branch<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/canavan/?report=reader">Canavan Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Dellefave-Castillo, Lisa, MS; University of Chicago<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/als-overview/?report=reader">Amyotrophic Lateral Sclerosis Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/arvd/?report=reader">Arrhythmogenic Right Ventricular Cardiomyopathy Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Dell, Katherine MacRae, MD; Case Western Reserve University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pkd-ar/?report=reader">Autosomal Recessive Polycystic Kidney Disease – PKHD1</a>
|
|
</li></ul></li><li class="half_rhythm">Demain, Leigh AM, PhD; University of Manchester and Manchester University NHS Foundation Trust<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/perrault/?report=reader">Perrault Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Demarest, Scott, MD; University of Colorado<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cdkl5-def/?report=reader">CDKL5 Deficiency Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/slc6a1-ndd/?report=reader">SLC6A1-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Demirdas, Serwet, MD, PhD; Erasmus Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tnxb-eds/?report=reader">TNXB-Related Classical-Like Ehlers-Danlos Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Dempsey, Melissa A, MS; Parkview Health<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/thctd/?report=reader">Allan-Herndon-Dudley Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/x-dcdp/?report=reader">Chondrodysplasia Punctata 2, X-Linked</a>
|
|
</li></ul></li><li class="half_rhythm">Demuth, Ilja, PhD; Charité – Universitätsmedizin Berlin<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/nijmegen/?report=reader">Nijmegen Breakage Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Deneubourg, Celine, MSc; King's College London<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/epg5/?report=reader">EPG5-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Depienne, Christel, PhD; Hôpital Pitié-Salpêtrière<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cc2-leuk/?report=reader">CLCN2-Related Leukoencephalopathy</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/mirror/?report=reader">Congenital Mirror Movements</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/spg4/?report=reader">Spastic Paraplegia 4</a>
|
|
</li></ul></li><li class="half_rhythm">Der Kaloustian, Vazken M, MD; McGill University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ed2/?report=reader">Hidrotic Ectodermal Dysplasia 2</a>
|
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</li></ul></li><li class="half_rhythm">Derks, Terry GJ, MD, PhD; University Medical Center Groningen<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/gsd3/?report=reader">Glycogen Storage Disease Type III</a>
|
|
</li></ul></li><li class="half_rhythm">Derry, W Brent, PhD; The Hospital for Sick Children<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ccm/?report=reader">Familial Cerebral Cavernous Malformation</a>
|
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</li></ul></li><li class="half_rhythm">Desai, Jigar, PhD; Boston Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cfeom/?report=reader">Congenital Fibrosis of the Extraocular Muscles Overview</a>
|
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</li></ul></li><li class="half_rhythm">Desnick, Robert J, MD, PhD; Icahn School of Medicine at Mount Sinai<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cep/?report=reader">Congenital Erythropoietic Porphyria</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/epp-ar/?report=reader">Erythropoietic Protoporphyria, Autosomal Recessive</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/fabry/?report=reader">Fabry Disease</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/tay-sachs/?report=reader">HEXA Disorders</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/epp-xl/?report=reader">X-Linked Protoporphyria</a>
|
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</li></ul></li><li class="half_rhythm">Deuitch, Natalie, MS; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/haplo-a20/?report=reader">Haploinsufficiency of A20</a>
|
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</li><li class="half_rhythm">
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<a href="/books/n/gene/runx1/?report=reader">RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/traps/?report=reader">TNF Receptor-Associated Periodic Fever Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Deutschländer, Angela B, MD; Mayo Clinic<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/gnal-dystonia/?report=reader">DYT-GNAL</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/vps35-pd/?report=reader">VPS35-Related Parkinson Disease</a>
|
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</li></ul></li><li class="half_rhythm">Devinsky, Orrin, MD; New York University Langone Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/dup15q/?report=reader">Maternal 15q Duplication Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Dgany, Orly, PhD; Felsenstein Medical Research Center, Beilinson Campus<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/a-thal/?report=reader">Alpha-Thalassemia</a>
|
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</li><li class="half_rhythm">
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<a href="/books/n/gene/cda1/?report=reader">Congenital Dyserythropoietic Anemia Type I</a>
|
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</li></ul></li><li class="half_rhythm">Dhamija, Radhika, MD; Mayo Clinic<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hartsfield/?report=reader">FGFR1-Related Hartsfield Syndrome</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/schwann/?report=reader">LZTR1- and SMARCB1-Related Schwannomatosis</a>
|
|
</li></ul></li><li class="half_rhythm">Di Donato, Nataliya, MD, PhD; Universitätsklinikum Carl Gustav Carus<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/baraitser-winter/?report=reader">Baraitser-Winter Cerebrofrontofacial Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Di Giovanni, Giuseppe, PhD; Istituto Euro-Mediterraneo di Scienza e Tecnologia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ea1/?report=reader">Episodic Ataxia Type 1</a>
|
|
</li></ul></li><li class="half_rhythm">Di Gregorio, Eleonora, PhD; Città della Salute e della Scienza University Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/sca38/?report=reader">Spinocerebellar Ataxia Type 38</a>
|
|
</li></ul></li><li class="half_rhythm">Di Meo, Ivano, PhD; IRCCS Foundation Carlo Besta Neurological Institute<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ee/?report=reader">Ethylmalonic Encephalopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Di Paola, Jorge, MD; Washington University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/etv6-tpl/?report=reader">ETV6 Thrombocytopenia and Predisposition to Leukemia</a>
|
|
</li></ul></li><li class="half_rhythm">Dias, Cristina, MD, PhD; King's College London<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/bcl11a-id/?report=reader">BCL11A-Related Intellectual Disability</a>
|
|
</li></ul></li><li class="half_rhythm">Dias, Renuka, PhD; Birmingham Women's and Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/wfs/?report=reader">WFS1 Spectrum Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Diaz, George A, MD, PhD; Icahn School of Medicine at Mount Sinai<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/trma/?report=reader">Thiamine-Responsive Megaloblastic Anemia Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Dib-Hajj, Sulayman D, PhD; Yale University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/etha/?report=reader">SCN9A Neuropathic Pain Syndromes</a>
|
|
</li></ul></li><li class="half_rhythm">Dichgans, Martin, MD, PhD; Ludwig-Maximilians-Universität München<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cadasil/?report=reader">CADASIL</a>
|
|
</li></ul></li><li class="half_rhythm">Dickerson, Kathryn E, MD; University of Texas Southwestern Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/monosomy7-ov/?report=reader">Monosomy 7 Predisposition Syndromes Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Dietz, Harry C, MD; Johns Hopkins University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/marfan/?report=reader">FBN1-Related Marfan Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/loeys-dietz/?report=reader">Loeys-Dietz Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">DiGiovanna, John J, MD; National Cancer Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/xp/?report=reader">Xeroderma Pigmentosum</a>
|
|
</li></ul></li><li class="half_rhythm">Digweed, Martin, PhD; Charité – Universitätsmedizin Berlin<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/nijmegen/?report=reader">Nijmegen Breakage Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">DiMauro, Salvatore, MD; Columbia University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/melas/?report=reader">MELAS</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/merrf/?report=reader">MERRF</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/kss/?report=reader">Mitochondrial DNA Deletion Syndromes</a>
|
|
</li></ul></li><li class="half_rhythm">Dimmock, David P, MD; Children's Hospital of Wisconsin<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dguok-mtddepl/?report=reader">Deoxyguanosine Kinase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Dindot, Scott, PhD; Texas A&M University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dup15q/?report=reader">Maternal 15q Duplication Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Diop-Bove, Ndeye, PhD; Albert Einstein College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/folate-mal/?report=reader">Hereditary Folate Malabsorption</a>
|
|
</li></ul></li><li class="half_rhythm">Dirksen, Robert T, PhD; University of Rochester School of Medicine and Dentistry<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mhs/?report=reader">Malignant Hyperthermia Susceptibility</a>
|
|
</li></ul></li><li class="half_rhythm">DiStasio, Andrew T, PhD; Nationwide Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/menkes/?report=reader">ATP7A-Related Copper Transport Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Disteche, Christine M, PhD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/yci/?report=reader">Y Chromosome Infertility</a>
|
|
</li></ul></li><li class="half_rhythm">DiStefano, Charlotte, PhD; University of California Los Angeles<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dup15q/?report=reader">Maternal 15q Duplication Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Dobloug, Sigurd, MD; Lund University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca4/?report=reader">Spinocerebellar Ataxia Type 4</a>
|
|
</li></ul></li><li class="half_rhythm">Dobson-Stone, Carol, DPhil; University of Sydney<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mcleod/?report=reader">McLeod Neuroacanthocytosis Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/chac/?report=reader">VPS13A Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Dobyns, William B, MD; University of Minnesota<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cutis-laxa/?report=reader">ATP6V0A2-Related Cutis Laxa</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/eccl/?report=reader">Encephalocraniocutaneous Lipomatosis</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/chrom17-lis/?report=reader">PAFAH1B1-Related Lissencephaly / Subcortical Band Heterotopia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/pik3ca-overgrowth/?report=reader">PIK3CA-Related Overgrowth Spectrum</a>
|
|
</li></ul></li><li class="half_rhythm">Docherty, Louise Esther, BSc (Hons), PhD; Salisbury NHS Foundation Trust<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dmtn/?report=reader">Diabetes Mellitus, 6q24-Related Transient Neonatal</a>
|
|
</li></ul></li><li class="half_rhythm">Doherty, Dan, MD, PhD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mn1-ctt/?report=reader">MN1 C-Terminal Truncation Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Doherty, Emily S, MD; Carilion Clinic<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/muenke/?report=reader">Muenke Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Doimo, Mara, PhD; University of Padova<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/coq10-def/?report=reader">Primary Coenzyme Q10 Deficiency Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Dome, Jeffrey S, MD, PhD; Children's National Health System<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/wilms-ov/?report=reader">Wilms Tumor Predisposition</a>
|
|
</li></ul></li><li class="half_rhythm">Dominik, Natalia, BSc, MSc; UCL Queen Square Institute of Neurology<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/riboflavin-tn/?report=reader">Riboflavin Transporter Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Dong, Hui-Jia; University of Florida College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/angelman/?report=reader">Angelman Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Donkervoort, Sandra, MS; National Institute of Neurological Disorders and Stroke<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/als-overview/?report=reader">Amyotrophic Lateral Sclerosis Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/bethlem/?report=reader">Collagen VI-Related Dystrophies</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ibmpfd/?report=reader">Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia</a>
|
|
</li></ul></li><li class="half_rhythm">Donnai, Dian, MD; University of Manchester and St Mary's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/donnai/?report=reader">Donnai-Barrow Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Doros, Leslie, MD; Children's National Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pp-blastoma/?report=reader">DICER1 Tumor Predisposition</a>
|
|
</li></ul></li><li class="half_rhythm">Dorsey, Adrianne M; Children's National Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ssadh/?report=reader">Succinic Semialdehyde Dehydrogenase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Dotti, Maria Teresa, MD; University of Siena<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ctx/?report=reader">Cerebrotendinous Xanthomatosis</a>
|
|
</li></ul></li><li class="half_rhythm">Douthitt Seibel, Gabrielle, ARNP, MN, MPH; Seattle Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sickle/?report=reader">Sickle Cell Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Douzgou, Sofia, MD, PhD; Haukeland University Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ppp2r1a-ndd/?report=reader">PPP2R1A-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Dowling, James J, MD, PhD; Hospital for Sick Children<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mtm/?report=reader">X-Linked Myotubular Myopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Downs, Jenny, MSc, PhD; Telethon Kids Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cdkl5-def/?report=reader">CDKL5 Deficiency Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Drillings, Ian; Children's National Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ssadh/?report=reader">Succinic Semialdehyde Dehydrogenase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Driscoll, Daniel J, MD, PhD; University of Florida College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/angelman/?report=reader">Angelman Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/pws/?report=reader">Prader-Willi Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Drunat, Séverine, PharmD, PhD; APHP-Robert Debré University Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/aspm-pm/?report=reader">ASPM Primary Microcephaly</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/baraitser-winter/?report=reader">Baraitser-Winter Cerebrofrontofacial Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/wdr62-pm/?report=reader">WDR62 Primary Microcephaly</a>
|
|
</li></ul></li><li class="half_rhythm">du Souich, Christèle, MSc; University of British Columbia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/nsdhl-dis/?report=reader">NSDHL-Related Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/unc80-def/?report=reader">UNC80 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Dua Puri, Ratna, MD; Sir Ganga Ram Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/primrose/?report=reader">Primrose Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Dubois, Anna, BSc, MBChB; Royal Victoria Infirmary<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cyld-cs/?report=reader">CYLD Cutaneous Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Dugan, Stefanie N, MS; BloodCenter of Wisconsin<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ankrd26/?report=reader">ANKRD26-Related Thrombocytopenia</a>
|
|
</li></ul></li><li class="half_rhythm">Duis, Jessica, MD, MS; Children's Hospital Colorado<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/schinzel-giedion/?report=reader">Schinzel-Giedion Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/setbp1-hd/?report=reader">SETBP1 Haploinsufficiency Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Duker, Angela, MS; Nemours Children’s Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mopd2/?report=reader">Microcephalic Osteodysplastic Primordial Dwarfism Type II</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/rcdp/?report=reader">Rhizomelic Chondrodysplasia Punctata Type 1</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/rnu4atac-dis/?report=reader">RNU4atac-opathy</a>
|
|
</li></ul></li><li class="half_rhythm">Duley, John A, PhD; University of Queensland and Mater Research<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/arts/?report=reader">Phosphoribosylpyrophosphate Synthetase Deficiency</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/prs/?report=reader">Phosphoribosylpyrophosphate Synthetase Superactivity</a>
|
|
</li></ul></li><li class="half_rhythm">Dulski, Jaroslaw, MD, PhD; Medical University of Gdansk<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hdls/?report=reader">CSF1R-Related Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/perry/?report=reader">DCTN1-Related Neurodegeneration</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/vps35-pd/?report=reader">VPS35-Related Parkinson Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Dumitrescu, Alexandra M, MD, PhD; University of Chicago Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/thctd/?report=reader">Allan-Herndon-Dudley Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Dunn, Clinton P, MD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/xlhi/?report=reader">X-Linked Hyper IgM Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Dunoyer, Margaux, MD; Assistance Publique-Hôpitaux de Paris<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mirror/?report=reader">Congenital Mirror Movements</a>
|
|
</li></ul></li><li class="half_rhythm">Dunwoodie, Sally, BSc, PhD; Victor Chang Cardiac Research Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/nad-def/?report=reader">Congenital NAD Deficiency Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/spondylocostal-d/?report=reader">Spondylocostal Dysostosis, Autosomal Recessive</a>
|
|
</li></ul></li><li class="half_rhythm">Dunø, Morten, PhD; Rigshospitalet<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/myotonia-c/?report=reader">Myotonia Congenita</a>
|
|
</li></ul></li><li class="half_rhythm">Dupré, Nicolas, MD, MSc; Université Laval<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/accpn/?report=reader">Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/syne1ca-ar/?report=reader">SYNE1 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Dupuis, Lucie, MS, MSc; The Hospital for Sick Children and University of Toronto<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/caffey/?report=reader">Caffey Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Duque Lasio, Maria Laura, MD; Washington University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pdc/?report=reader">Pyruvate Carboxylase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Duquette, Antoine, MD, MSc; Centre hospitalier de l'Université de Montréal<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/friedreich/?report=reader">Friedreich Ataxia</a>
|
|
</li></ul></li><li class="half_rhythm">Durda, Kate M, MS; University of Iowa<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/vws/?report=reader">IRF6-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Durie, Peter R, MD; The Hospital for Sick Children, University of Toronto<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/sds/?report=reader">Shwachman-Diamond Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Durr, Alexandra, MD, PhD; Hôpital de la Pitié-Salpêtrière<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/jpd/?report=reader">Parkin Type of Early-Onset Parkinson Disease</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/spg11/?report=reader">Spastic Paraplegia 11</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/spg4/?report=reader">Spastic Paraplegia 4</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca28/?report=reader">Spinocerebellar Ataxia Type 28</a>
|
|
</li></ul></li><li class="half_rhythm">Dye, Thomas J, MD; Cincinnati Children's Hospital Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dlg4-synap/?report=reader">DLG4-Related Synaptopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Dykens, Elisabeth, PhD; University of California, Los Angeles<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sms/?report=reader">Smith-Magenis Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Dyment, David A, DPhil, MD; Children's Hospital of Eastern Ontario<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/asah1/?report=reader">ASAH1-Related Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/short/?report=reader">SHORT Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/trpm3-ndd/?report=reader">TRPM3-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Délot, Emmanuèle C, PhD; Children's National Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/xxms/?report=reader">Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development</a>
|
|
</li></ul></li></ul></div><div id="IX-E"><div class="h2"></div><ul class="simple-list"><li class="half_rhythm">Earley, Chelsea, MD; Columbia University Irving Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/csnk2b-ndd/?report=reader">CSNK2B-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Earl, Rachel, PhD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/chd8-ndd-og/?report=reader">CHD8-Related Neurodevelopmental Disorder with Overgrowth</a>
|
|
</li></ul></li><li class="half_rhythm">Ebens, Christen, MD, MPH; University of Minnesota<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/fa/?report=reader">Fanconi Anemia</a>
|
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</li></ul></li><li class="half_rhythm">Ebrahimi-Fakhari, Darius, MD, PhD; Harvard Medical School<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ap4-def/?report=reader">AP-4-Associated Hereditary Spastic Paraplegia</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/epg5/?report=reader">EPG5-Related Disorder</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/prrt2-parox/?report=reader">PRRT2-Related Disorder</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/spg15/?report=reader">Spastic Paraplegia 15</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/tecpr2-hsan-id/?report=reader">TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability </a>
|
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</li></ul></li><li class="half_rhythm">Eccles, Michael R, PhD; University of Otago<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/papr/?report=reader">PAX2-Related Disorder</a>
|
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</li></ul></li><li class="half_rhythm">Edvardsson, Vidar Orn, MD; The National University Hospital of Iceland<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/aprt-def/?report=reader">Adenine Phosphoribosyltransferase Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Edward, Deepak P, MD; University of Illinois at Chicago<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/glc/?report=reader">Primary Congenital Glaucoma</a>
|
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</li></ul></li><li class="half_rhythm">Edwards, Corwin Q, MD; University of Utah School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hemochromatosis/?report=reader">HFE-Related Hemochromatosis</a>
|
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</li></ul></li><li class="half_rhythm">Efthymiou, Stephanie, MSc, PhD; University College London<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/gria2-ndd/?report=reader">GRIA2-Related Neurodevelopmental Disorder</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/nars1/?report=reader">NARS1-Related Neurologic Disorders</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/wars2-def/?report=reader">WARS2 Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Eggens, Veerle RC, MSc; University of Amsterdam<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/exosc3-pc-hypo-p/?report=reader">EXOSC3 Pontocerebellar Hypoplasia</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/pc-hypo-p/?report=reader">TSEN54 Pontocerebellar Hypoplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Eichler, Evan E, PhD; University of Washington School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/chd8-ndd-og/?report=reader">CHD8-Related Neurodevelopmental Disorder with Overgrowth</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/dyrk1a-id/?report=reader">DYRK1A Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Eichler, Florian S, MD; Massachusetts General Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/canavan/?report=reader">Canavan Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Ejaz, Resham, MD; McMaster Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/lms/?report=reader">NOTCH3-Related Lateral Meningocele Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">El Feghaly, Jinia, MD; University of Rochester Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/nsdhl-dis/?report=reader">NSDHL-Related Disorders</a>
|
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</li></ul></li><li class="half_rhythm">El-Gharbawy, Areeg, MD; Duke University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/gsd1/?report=reader">Glycogen Storage Disease Type I</a>
|
|
</li></ul></li><li class="half_rhythm">El-Hattab, Ayman W, MD; University of Sharjah<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/as-def/?report=reader">Asparagine Synthetase Deficiency</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/dguok-mtddepl/?report=reader">Deoxyguanosine Kinase Deficiency</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/el-hattab-alkuraya/?report=reader">El-Hattab-Alkuraya Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/fars2-def/?report=reader">FARS2 Deficiency</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/fbxl4-mtddepl/?report=reader">FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/gsd4/?report=reader">Glycogen Storage Disease Type IV</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/melas/?report=reader">MELAS</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/mtdna-md-ov/?report=reader">Mitochondrial DNA Maintenance Defects Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/mpv17-mtdep/?report=reader">MPV17-Related Hepatocerebral Mitochondrial DNA Maintenance Defect</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/cdsp/?report=reader">Primary Carnitine Deficiency</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/sucla2-def/?report=reader">SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/suclg1-mtddepl/?report=reader">SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/tk2-mtddepl/?report=reader">TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/xq28-dup/?report=reader">Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated</a>
|
|
</li></ul></li><li class="half_rhythm">Elango, Sonya, MS; Icahn School of Medicine at Mount Sinai / Mount Sinai Beth Israel<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/lrrk2/?report=reader">LRRK2 Parkinson Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Elizondo, Leah I; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/siod/?report=reader">Schimke Immunoosseous Dysplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Elliott, Alison M, MS, PhD; University of British Columbia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ritscher-schinzel/?report=reader">Ritscher-Schinzel Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Ellison, David H, MD; Oregon Health & Science University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pha2/?report=reader">Pseudohypoaldosteronism Type II</a>
|
|
</li></ul></li><li class="half_rhythm">Elsas, Louis J, MD; University of Miami<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/galactosemia/?report=reader">Classic Galactosemia and Clinical Variant Galactosemia</a>
|
|
</li></ul></li><li class="half_rhythm">Elsea, Sarah H, PhD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/aadc-def/?report=reader">Aromatic L-Amino Acid Decarboxylase Deficiency</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/mbd5-dis/?report=reader">MBD5 Haploinsufficiency</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/sms/?report=reader">Smith-Magenis Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Else, Tobias, MD; University of Michigan Medical School<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/paragangliomas/?report=reader">Hereditary Paraganglioma-Pheochromocytoma Syndromes</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/pot1-tpd/?report=reader">POT1 Tumor Predisposition</a>
|
|
</li></ul></li><li class="half_rhythm">Elsharkawi, Ibrahim, MD; Washington University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pitt-hopkins/?report=reader">Pitt-Hopkins Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Emanuel, Beverly S, PhD; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gr_22q11deletion/?report=reader">22q11.2 Deletion Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/emanuel/?report=reader">Emanuel Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Eng, Charis, MD, PhD; Cleveland Clinic<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/men2/?report=reader">Multiple Endocrine Neoplasia Type 2</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/phts/?report=reader">PTEN Hamartoma Tumor Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Engelborghs, Sebastiaan, MD, PhD; University of Antwerp<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/als-ftd/?report=reader">C9orf72-Related Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia</a>
|
|
</li></ul></li><li class="half_rhythm">Engelen, Marc, MD, PhD; Amsterdam University Medical Centers<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/lbsl/?report=reader">Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation</a>
|
|
</li></ul></li><li class="half_rhythm">England, Jade, MD, MSc; University of Montreal<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/smdcf/?report=reader">Spondylometaphyseal Dysplasia, Corner Fracture Type</a>
|
|
</li></ul></li><li class="half_rhythm">Engle, Elizabeth C, MD; Children's Hospital Boston<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cfeom/?report=reader">Congenital Fibrosis of the Extraocular Muscles Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/duane/?report=reader">Duane Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Enns, Gregory M, MB ChB; Stanford University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cact-def/?report=reader">Carnitine-Acylcarnitine Translocase Deficiency</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/merrf/?report=reader">MERRF</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ngly1-cddg/?report=reader">NGLY1-Related Congenital Disorder of Deglycosylation</a>
|
|
</li></ul></li><li class="half_rhythm">Erez, Ayelet, MD, PhD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/args-aciduria/?report=reader">Argininosuccinate Lyase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Ernst Florido, Michelle, MS; Columbia University Vagelos College of Physicians and Surgeons<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/csnk2b-ndd/?report=reader">CSNK2B-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Erro, Roberto, MD, PhD; University of Salerno<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pnknd/?report=reader">Familial Paroxysmal Nonkinesigenic Dyskinesia</a>
|
|
</li></ul></li><li class="half_rhythm">Erwin, Angelika, MD, PhD; Cleveland Clinic<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cep/?report=reader">Congenital Erythropoietic Porphyria</a>
|
|
</li></ul></li><li class="half_rhythm">Escolar, Maria L, MD, MS; Children's Hospital of Pittsburgh – UPMC<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/krabbe/?report=reader">Krabbe Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Esposito, Dario, MD; Sapienza Università di Roma<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/me-ataxia/?report=reader">PRICKLE1-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Evangelista, Teresinha, MD; Institut de Myologie<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/opmd/?report=reader">Oculopharyngeal Muscular Dystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Evans, D Gareth, MD; Manchester University Hospitals<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bcns/?report=reader">Nevoid Basal Cell Carcinoma Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/nf2/?report=reader">NF2-Related Schwannomatosis</a>
|
|
</li></ul></li><li class="half_rhythm">Evans, Kelly N, MD; Seattle Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/apert/?report=reader">Apert Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/craniosynostosis/?report=reader">FGFR Craniosynostosis Syndromes Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Everett, Lorraine A; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pendred/?report=reader">SLC26A4-Related Sensorineural Hearing Loss</a>
|
|
</li></ul></li><li class="half_rhythm">Evidente, Virgilio Gerald H, MD; Movement Disorders Center of Arizona<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/xdp/?report=reader">X-Linked Dystonia-Parkinsonism Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Ewbank, Clifton, MD; University of California San Francisco<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/fum/?report=reader">Fumarate Hydratase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Eymard-Pierre, Eleonore, PhD; Unité mixte de recherche 384 et Fédération de génétique humaine Auvergne<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/iahsp/?report=reader">ALS2-Related Disorder</a>
|
|
</li></ul></li></ul></div><div id="IX-F"><div class="h2"></div><ul class="simple-list"><li class="half_rhythm">Fabre, Alexandre, MD, PhD; La Timone Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sd-thes/?report=reader">Trichohepatoenteric Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Fahim, Abigail T, MD, PhD; University of Michigan Medical School<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rp-overview/?report=reader">Nonsyndromic Retinitis Pigmentosa Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Fahrner, Jill A, MD, PhD; Johns Hopkins School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/beck-fahrner/?report=reader">TET3-Related Beck-Fahrner Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Falchetti, Alberto, MD; University Hospital of Careggi<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/men1/?report=reader">Multiple Endocrine Neoplasia Type 1</a>
|
|
</li></ul></li><li class="half_rhythm">Falik Zaccai, Tzipora C, MD; Galilee Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/insr-ir/?report=reader">INSR-Related Severe Insulin Resistance Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Falk, Marni J, MD; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cohen/?report=reader">Cohen Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/craniosynostosis/?report=reader">FGFR Craniosynostosis Syndromes Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/kss/?report=reader">Mitochondrial DNA Deletion Syndromes</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/pdhc-def-ov/?report=reader">Primary Pyruvate Dehydrogenase Complex Deficiency Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Fallatah, Wedad, MD; McGill University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rcdp/?report=reader">Rhizomelic Chondrodysplasia Punctata Type 1</a>
|
|
</li></ul></li><li class="half_rhythm">Fam, Hok Khim, BSc; University of British Columbia<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/scan1/?report=reader">Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive</a>
|
|
</li></ul></li><li class="half_rhythm">Fanin, Marina, PhD; University of Padova<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/lgmd2a/?report=reader">Calpainopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Fanto, Manolis, PhD; King's College London<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/epg5/?report=reader">EPG5-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Fan, Yuting, MD; St Luke's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/yci/?report=reader">Y Chromosome Infertility</a>
|
|
</li></ul></li><li class="half_rhythm">Faqeih, Eissa, MD; King Fahad Medical City<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/fars2-def/?report=reader">FARS2 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Farlow, Janice, BA, BS; Indiana University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/parkinson-overview/?report=reader">Parkinson Disease Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Farndon, Peter A, MD; Birmingham Women's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bcns/?report=reader">Nevoid Basal Cell Carcinoma Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Farrer, Matthew, PhD; University of British Columbia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/lrrk2/?report=reader">LRRK2 Parkinson Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Fasham, James, BSc, MBChB, PhD; University of Exeter Medical School<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hyal2-def/?report=reader">HYAL2 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Fatemi, Ali, MD; Kennedy Krieger Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/x-ald/?report=reader">X-Linked Adrenoleukodystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Fathi, Esmat, PhD; St Jude Children's Research Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gnai1-ndd/?report=reader">GNAI1-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Fauth, Christine, MD; Medical University of Innsbruck<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/fkbp14-keds/?report=reader">FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Fecarotta, Simona, MD; Federico II University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/lpi/?report=reader">Lysinuric Protein Intolerance</a>
|
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</li></ul></li><li class="half_rhythm">Fechner, Patricia Y, MD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/gonad-dys-46xy/?report=reader">Nonsyndromic Disorders of Testicular Development Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Federico, Antonio, MD; University of Siena<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ctx/?report=reader">Cerebrotendinous Xanthomatosis</a>
|
|
</li></ul></li><li class="half_rhythm">Feldman, Gerald L, MD, PhD; Wayne State University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/brca1/?report=reader">BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer</a>
|
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</li></ul></li><li class="half_rhythm">Feldman, Howard H, MD; University of British Columbia<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ftd-grn/?report=reader">GRN Frontotemporal Dementia</a>
|
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</li></ul></li><li class="half_rhythm">Felton, Thomas, MS; McLendon Clinical Laboratories<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/drpla/?report=reader">DRPLA</a>
|
|
</li></ul></li><li class="half_rhythm">Ferreira, Carlos R, MD; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/barth/?report=reader">Barth Syndrome</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/gaci/?report=reader">Generalized Arterial Calcification of Infancy</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/og-dysp/?report=reader">Osteoglophonic Dysplasia</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/primrose/?report=reader">Primrose Syndrome</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/prolidase-def/?report=reader">Prolidase Deficiency</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/saul-wilson/?report=reader">Saul-Wilson Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Fete, Mary, MSN, RN; National Foundation for Ectodermal Dysplasias<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/x-hed/?report=reader">Hypohidrotic Ectodermal Dysplasia</a>
|
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</li></ul></li><li class="half_rhythm">Ficicioglu, Can, MD, PhD; Children’s Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/a-mannosidosis/?report=reader">Alpha-Mannosidosis</a>
|
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</li></ul></li><li class="half_rhythm">Field, Amanda, MPH; ResourcePath<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pp-blastoma/?report=reader">DICER1 Tumor Predisposition</a>
|
|
</li></ul></li><li class="half_rhythm">Figlewicz, Denise A, PhD; University of Michigan Medical School<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/fsh/?report=reader">Facioscapulohumeral Muscular Dystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Filipovich, Alexandra H, MD; Cincinnati Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hlh/?report=reader">Familial Hemophagocytic Lymphohistiocytosis</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/was/?report=reader">WAS-Related Disorders</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/xlhi/?report=reader">X-Linked Hyper IgM Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/x-lpd/?report=reader">X-Linked Lymphoproliferative Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Finanger, Erika L, MD; Oregon Health and Science University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sma/?report=reader">Spinal Muscular Atrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Fink, John K, MD; University of Michigan<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hsp/?report=reader">Hereditary Spastic Paraplegia Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Finucane, Brenda M, MS; Geisinger Health System<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mdel17q12/?report=reader">17q12 Recurrent Deletion Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/dup15q/?report=reader">Maternal 15q Duplication Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/sms/?report=reader">Smith-Magenis Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Fishbein, Lauren, MD, PhD; University of Colorado School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/paragangliomas/?report=reader">Hereditary Paraganglioma-Pheochromocytoma Syndromes</a>
|
|
</li></ul></li><li class="half_rhythm">Fisher, Simon E, DPhil; Max Planck Institute for Psycholinguistics<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/foxp2-sl-dis/?report=reader">FOXP2-Related Speech and Language Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Fish, Jennifer, PhD; University of Massachusetts Lowell<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/satb2-dis/?report=reader">SATB2-Associated Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Fiskerstrand, Torunn, MD, PhD; University of Bergen<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/adamtsl4-eyes/?report=reader">ADAMTSL4-Related Eye Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Fitzgibbon, Jude, PhD; Queen Mary University of London<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cebpa-aml/?report=reader">CEBPA-Associated Familial Acute Myeloid Leukemia (AML)</a>
|
|
</li></ul></li><li class="half_rhythm">FitzPatrick, David R, MD; University of Edinburgh<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sox2/?report=reader">SOX2 Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Flanagan, Maeve, BA; Weill Cornell Medical College<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bloom/?report=reader">Bloom Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Flanigan, Kevin M, MD; Nationwide Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bethlem/?report=reader">Collagen VI-Related Dystrophies</a>
|
|
</li></ul></li><li class="half_rhythm">Fleming, Judith C, PhD<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/trma/?report=reader">Thiamine-Responsive Megaloblastic Anemia Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Flemming, Kelly D, MD; Mayo Clinic<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ccm/?report=reader">Familial Cerebral Cavernous Malformation</a>
|
|
</li></ul></li><li class="half_rhythm">Florenzano, Pablo, MD; National Institute of Dental and Craniofacial Research<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mccune-albright/?report=reader">Fibrous Dysplasia / McCune-Albright Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Fluharty, Arvan L, PhD; University of California, Los Angeles<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mld/?report=reader">Arylsulfatase A Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Fogli, Anne, PhD; UMR INSERM 1103<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cach/?report=reader">Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter</a>
|
|
</li></ul></li><li class="half_rhythm">Foley, A Reghan, MD; National Institute of Neurological Disorders and Stroke<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bethlem/?report=reader">Collagen VI-Related Dystrophies</a>
|
|
</li></ul></li><li class="half_rhythm">Fong, Jamie C, MS; University of California, San Francisco<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hos/?report=reader">Holt-Oram Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Fontaine, Bertrand, MD, PhD; Assistance Publique - Hôpitaux de Paris<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hpp/?report=reader">Hypokalemic Periodic Paralysis</a>
|
|
</li></ul></li><li class="half_rhythm">Foroud, Tatiana, PhD; Indiana University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/parkinson-overview/?report=reader">Parkinson Disease Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Forsythe, Elizabeth, BMedSci, MBBS; University College London<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bbs/?report=reader">Bardet-Biedl Syndrome Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Forsyth, RaeLynn, MD; Johns Hopkins University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bbs/?report=reader">Bardet-Biedl Syndrome Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Forwood, Caitlin, BSc (Hons), MBBS (Hons); Sydney Children's Hospitals Network<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/clcn4-ndd/?report=reader">CLCN4-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Foss, Kimberly, MS; University of North Carolina at Chapel Hill<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ppp2r5d-dis/?report=reader">PPP2R5D-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Foster, Rebecca, PhD; St Louis Children’s Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sms/?report=reader">Smith-Magenis Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Fournier, Emmanuel, MD, PhD; Assistance Publique – Hôpitaux de Paris<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hpp/?report=reader">Hypokalemic Periodic Paralysis</a>
|
|
</li></ul></li><li class="half_rhythm">Fox, Mark H, MD; University of Iowa<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/me-ataxia/?report=reader">PRICKLE1-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Franco, Brunella, MD; University of Naples Federico II<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/microph-lsd/?report=reader">Microphthalmia with Linear Skin Defects Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ofd1/?report=reader">Oral-Facial-Digital Syndrome Type I</a>
|
|
</li></ul></li><li class="half_rhythm">Francomano, Clair A, MD; National Institutes of Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/achondroplasia/?report=reader">Achondroplasia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/hypochondroplasia/?report=reader">Hypochondroplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Franques, Jérôme, MD; Assistance Publique – Hôpitaux de Marseille<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hpp/?report=reader">Hypokalemic Periodic Paralysis</a>
|
|
</li></ul></li><li class="half_rhythm">Frantzen, Carlijn, MD; University Medical Center Groningen<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/vhl/?report=reader">Von Hippel-Lindau Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Frazier, Marsha L, PhD; UT MD Anderson Cancer Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pjs/?report=reader">Peutz-Jeghers Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Freeman, Alexandra F, MD; National Institutes of Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/higes/?report=reader">STAT3 Hyper IgE Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">French, Tegan; Murdoch Children's Research Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/td/?report=reader">Thanatophoric Dysplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Frey, Beat M, MD; Swiss Red Cross<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mcleod/?report=reader">McLeod Neuroacanthocytosis Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Fridovich-Keil, Judith L, PhD; Emory University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/duarte-gal/?report=reader">Duarte Variant Galactosemia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/gale-def/?report=reader">Epimerase Deficiency Galactosemia</a>
|
|
</li></ul></li><li class="half_rhythm">Friedman, Jan M, MD, PhD; University of British Columbia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/nf1/?report=reader">Neurofibromatosis 1</a>
|
|
</li></ul></li><li class="half_rhythm">Friedman, Jennifer, MD; University of California San Diego<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/adcy5-dysk/?report=reader">ADCY5 Dyskinesia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/spr-def/?report=reader">Sepiapterin Reductase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Friedman, Thomas B, PhD; National Institute on Deafness and Other Communication Disorders<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/perrault/?report=reader">Perrault Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Friez, Michael J, PhD; Greenwood Genetic Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ml2/?report=reader">GNPTAB-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Frontali, Marina, MD; Italian National Research Council<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/drpla/?report=reader">DRPLA</a>
|
|
</li></ul></li><li class="half_rhythm">Frühwald, Michael C, MD, PhD; University Medical Center Augsburg<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rtps/?report=reader">Rhabdoid Tumor Predisposition Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Fu, Jiao, MD; University of Chicago Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/thctd/?report=reader">Allan-Herndon-Dudley Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Fujimura, Frank K, PhD; GMP Genetics, Inc<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hemo-a/?report=reader">Hemophilia A</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/hemo-b/?report=reader">Hemophilia B</a>
|
|
</li></ul></li><li class="half_rhythm">Fukutake, Toshio, MD, PhD; Kameda Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/carasil/?report=reader">HTRA1 Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Fung, Jasmine LF; University of Hong Kong<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mn1-ctt/?report=reader">MN1 C-Terminal Truncation Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Furukawa, Yoshiaki, MD, PhD; Juntendo University Faculty of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/drd/?report=reader">GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/thdrd/?report=reader">Tyrosine Hydroxylase Deficiency</a>
|
|
</li></ul></li></ul></div><div id="IX-G"><div class="h2"></div><ul class="simple-list"><li class="half_rhythm">Gabriele, Michele, MS, PhD; European Institute of Oncology<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gabriele-devries/?report=reader">Gabriele-de Vries Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Gadea, Randi, MS; Children's Mercy Hospitals and Clinics<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ayme-gripp/?report=reader">Ayme-Gripp Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Gafni, Rachel I, MD; National Institute of Dental and Craniofacial Research<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hyper-ftc/?report=reader">Hyperphosphatemic Familial Tumoral Calcinosis</a>
|
|
</li></ul></li><li class="half_rhythm">Gahl, William A, MD, PhD; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/alkap/?report=reader">Alkaptonuria</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/mga3/?report=reader">Costeff Syndrome</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/ctns/?report=reader">Cystinosis</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/issd/?report=reader">Free Sialic Acid Storage Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/gaci/?report=reader">Generalized Arterial Calcification of Infancy</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/hps/?report=reader">Hermansky-Pudlak Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Galanello, Renzo, MD; Ospedale Regionale Microcitemie<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/a-thal/?report=reader">Alpha-Thalassemia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/b-thal/?report=reader">Beta-Thalassemia</a>
|
|
</li></ul></li><li class="half_rhythm">Galarreta Aima, Carolina I, MD; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/propionic-a/?report=reader">Propionic Acidemia</a>
|
|
</li></ul></li><li class="half_rhythm">Gallagher, Emily R, MD, MPH; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/scs/?report=reader">Saethre-Chotzen Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Gallie, Brenda L, MD; Hospital for Sick Children<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/retinoblastoma/?report=reader">Retinoblastoma</a>
|
|
</li></ul></li><li class="half_rhythm">Gallus, Gian Nicola, Dsci; University of Siena<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ctx/?report=reader">Cerebrotendinous Xanthomatosis</a>
|
|
</li></ul></li><li class="half_rhythm">Gamache, Pierre-Luc, MD, PhD; CHU de Québec<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/syne1ca-ar/?report=reader">SYNE1 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Gambello, Michael J, MD, PhD; Emory University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mdel3q29/?report=reader">3q29 Recurrent Deletion</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/duarte-gal/?report=reader">Duarte Variant Galactosemia</a>
|
|
</li></ul></li><li class="half_rhythm">Ganesh, Jaya, MD; Icahn School of Medicine at Mount Sinai<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/lathosterolosis/?report=reader">Lathosterolosis</a>
|
|
</li></ul></li><li class="half_rhythm">Ganetzky, Rebecca, MD; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/echs1-def/?report=reader">Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/pdhc-def-ov/?report=reader">Primary Pyruvate Dehydrogenase Complex Deficiency Overview</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/trmu-def/?report=reader">TRMU Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Gangishetti, Prasanna K, MBBS; Mount Sinai School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cah/?report=reader">21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia</a>
|
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</li></ul></li><li class="half_rhythm">Garber, Judy, MD, MPH; Dana Farber Cancer Institute<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/li-fraumeni/?report=reader">Li-Fraumeni Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Garber, Kathryn, PhD; Emory University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ctcf-dis/?report=reader">CTCF-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Garbern, James Y, MD, PhD; University of Rochester Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pmd/?report=reader">PLP1 Disorders</a>
|
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</li></ul></li><li class="half_rhythm">Garcia, Christine Kim, MD, PhD; Columbia University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pf/?report=reader">Pulmonary Fibrosis Predisposition Overview</a>
|
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</li></ul></li><li class="half_rhythm">García-Murias, María, MS; Centro de Investigación Biomédica en red de Enfermedades Raras<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/sca36/?report=reader">Spinocerebellar Ataxia Type 36</a>
|
|
</li></ul></li><li class="half_rhythm">Garden, Gwenn A, MD, PhD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/sca7/?report=reader">Spinocerebellar Ataxia Type 7</a>
|
|
</li></ul></li><li class="half_rhythm">Gardner, Kathy Lou, MD; University of Pittsburgh<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/fhm/?report=reader">Familial Hemiplegic Migraine</a>
|
|
</li></ul></li><li class="half_rhythm">Gardner, RJM, MB ChB; University of Otago<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca20/?report=reader">Spinocerebellar Ataxia Type 20</a>
|
|
</li></ul></li><li class="half_rhythm">Garland, Emily M, PhD; Vanderbilt University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dbh/?report=reader">Dopamine Beta-Hydroxylase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Gasior, Maciej, MD, PhD; George Washington University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ssadh/?report=reader">Succinic Semialdehyde Dehydrogenase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Gassner, Christoph, PhD; Swiss Red Cross<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mcleod/?report=reader">McLeod Neuroacanthocytosis Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Gatti, Richard A, MD; David Geffen School of Medicine at UCLA<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ataxia-telangiectas/?report=reader">Ataxia-Telangiectasia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/nijmegen/?report=reader">Nijmegen Breakage Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Gaudette, Mara, MS; Northwestern University Medical School<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/als-overview/?report=reader">Amyotrophic Lateral Sclerosis Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Gaughan, Sommer, RD; Children's Hospital Colorado<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hfi/?report=reader">Hereditary Fructose Intolerance</a>
|
|
</li></ul></li><li class="half_rhythm">Gauvreau, Claudie, MD, MSc; Laval University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/accpn/?report=reader">Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum</a>
|
|
</li></ul></li><li class="half_rhythm">Gazdagh, Gabriella, MD; University Hospital Southampton<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/trio-id/?report=reader">TRIO-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Gazda, Hanna T, MD, PhD; Harvard Medical School<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/diamond-b/?report=reader">Diamond-Blackfan Anemia</a>
|
|
</li></ul></li><li class="half_rhythm">Gazzerro, Elisabetta, MD; Gaslini Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hypo-mcc/?report=reader">Hypomyelination and Congenital Cataract</a>
|
|
</li></ul></li><li class="half_rhythm">Gear, Russell, MB ChB; Victorian Clinical Genetics Services<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/os-cs/?report=reader">Osteopathia Striata with Cranial Sclerosis</a>
|
|
</li></ul></li><li class="half_rhythm">Geberhiwot, Tarekegn, MD; University Hospitals<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alstrom/?report=reader">Alstrom Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Gelb, Bruce D, MD; Icahn School of Medicine at Mount Sinai<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/char/?report=reader">Char Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/leopard/?report=reader">Noonan Syndrome with Multiple Lentigines</a>
|
|
</li></ul></li><li class="half_rhythm">Geramizadeh, Bita, MD; Shiraz University of Medical Sciences<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tyrosinemia-2/?report=reader">Tyrosinemia Type II</a>
|
|
</li></ul></li><li class="half_rhythm">German, James, MD; Weill Cornell Medical College<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bloom/?report=reader">Bloom Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Gertler, Tracy, MD, PhD; Children's Hospital of Chicago<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/kcnt1-epilepsy/?report=reader">KCNT1-Related Epilepsy</a>
|
|
</li></ul></li><li class="half_rhythm">Geschwind, Daniel H, MD, PhD; University of California, Los Angeles<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bgc/?report=reader">Primary Familial Brain Calcification</a>
|
|
</li></ul></li><li class="half_rhythm">Ghali, Neeti, MBChB, MD; London North West University Healthcare NHS Trust<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tnxb-eds/?report=reader">TNXB-Related Classical-Like Ehlers-Danlos Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Ghosh, Partha S, MD; Boston Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dbmd/?report=reader">Dystrophinopathies</a>
|
|
</li></ul></li><li class="half_rhythm">Ghosh, Rajarshi, PhD; National Institute of Allergy and Infectious Diseases<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cmt2d/?report=reader">GARS-Associated Axonal Neuropathy</a>
|
|
</li></ul></li><li class="half_rhythm">Gibbs, Richard A, PhD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/xia-gibbs/?report=reader">Xia-Gibbs Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Gibson, K Michael, PhD; Washington State University Spokane<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ssadh/?report=reader">Succinic Semialdehyde Dehydrogenase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Gibson, Ronald L, MD, PhD; University of Washington School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cf/?report=reader">Cystic Fibrosis</a>
|
|
</li></ul></li><li class="half_rhythm">Gibson, William Thomas, MD, PhD; BC Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/eed-og/?report=reader">EED-Related Overgrowth</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/setd1b-ndd/?report=reader">SETD1B-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Gidaro, Teresa, MD, PhD; Institut de Myologie, CNRS<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/opmd/?report=reader">Oculopharyngeal Muscular Dystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Gil-Peña, Helena, PhD; Hospital Universitario Central de Asturias<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hered-drta/?report=reader">Hereditary Distal Renal Tubular Acidosis</a>
|
|
</li></ul></li><li class="half_rhythm">Gilbert, Melissa A, PhD; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alagille/?report=reader">Alagille Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Giles, Rachel H, PhD; University Medical Center Utrecht<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/vhl/?report=reader">Von Hippel-Lindau Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Gillis, David, MD; Hadassah Hebrew University Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hi/?report=reader">Nonsyndromic Genetic Hyperinsulinism Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Gimpel, Charlotte, MD; Heidelberg University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pkd-ar/?report=reader">Autosomal Recessive Polycystic Kidney Disease – PKHD1</a>
|
|
</li></ul></li><li class="half_rhythm">Ginevic, Ilona, RD; Icahn School of Medicine at Mount Sinai<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/lchad/?report=reader">Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Giovanni, Monica A, MS; Geisinger Health System<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/lal-def/?report=reader">Lysosomal Acid Lipase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Girirajan, Santhosh, MBBS, PhD; Pennsylvania State University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mdel16p12_2/?report=reader">16p12.2 Recurrent Deletion</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/sms/?report=reader">Smith-Magenis Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Girisha, Katta Mohan, MD, PhD; Manipal Academy of Higher Education<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ebf3-ndd/?report=reader">EBF3 Neurodevelopmental Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/exoc6b-semd/?report=reader">EXOC6B-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/isca1-mmds/?report=reader">ISCA1-Related Multiple Mitochondrial Dysfunctions Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/mona/?report=reader">Multicentric Osteolysis Nodulosis and Arthropathy</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ppr-dysp/?report=reader">Progressive Pseudorheumatoid Dysplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Giunta, Cecilia, PhD; University Children's Hospital Zurich<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/fkbp14-keds/?report=reader">FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/eds6/?report=reader">PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Giusti, Francesca, MD, PhD; Villa Donatello Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/men1/?report=reader">Multiple Endocrine Neoplasia Type 1</a>
|
|
</li></ul></li><li class="half_rhythm">Glaser, Benjamin, MD; Hadassah-Hebrew University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hi/?report=reader">Nonsyndromic Genetic Hyperinsulinism Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Glassford, Megan, MMSc; Emory University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mdel3q29/?report=reader">3q29 Recurrent Deletion</a>
|
|
</li></ul></li><li class="half_rhythm">Glass, Ian, MBChB, MD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/joubert/?report=reader">Joubert Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/lwd/?report=reader">SHOX Deficiency Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Glinton, Kevin, MD, PhD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tango2-mea/?report=reader">TANGO2 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Gochuico, Bernadette R, MD; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hps/?report=reader">Hermansky-Pudlak Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Godfrey, Maurice, PhD; University of Nebraska Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cca/?report=reader">Congenital Contractural Arachnodactyly</a>
|
|
</li></ul></li><li class="half_rhythm">Gogineni, Kishore Sai, MSc; Kasturba Medical College, Manipal<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/lpin2-majeed/?report=reader">LPIN2-Related Majeed Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Golabi, Mahin, MD, MPH; San Francisco General Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sgbs/?report=reader">Simpson-Golabi-Behmel Syndrome Type 1</a>
|
|
</li></ul></li><li class="half_rhythm">Golas, Gretchen A, MS, RN; National Institutes of Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/chediak-higashi/?report=reader">Chediak-Higashi Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Gold-Von Simson, Gabrielle, BA, MD; NYU Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hsan4/?report=reader">NTRK1 Congenital Insensitivity to Pain with Anhidrosis</a>
|
|
</li></ul></li><li class="half_rhythm">Goldberg, Ethan M, MD, PhD; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/scn3a-ndd/?report=reader">SCN3A-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Goldberg, Y Paul, MBChB, PhD; Xenon Pharmaceuticals Inc<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/jh/?report=reader">Juvenile Hemochromatosis</a>
|
|
</li></ul></li><li class="half_rhythm">Goldfarb, Lev G, MD; National Institute of Neurological Disorders and Stroke / NIH<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cmt2d/?report=reader">GARS-Associated Axonal Neuropathy</a>
|
|
</li></ul></li><li class="half_rhythm">Goldin, Ehud, PhD; National Institutes of Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ml4/?report=reader">Mucolipidosis IV</a>
|
|
</li></ul></li><li class="half_rhythm">Goldman, I David, MD; Albert Einstein College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/folr1-cft-def/?report=reader">FOLR1-Related Cerebral Folate Transport Deficiency</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/folate-mal/?report=reader">Hereditary Folate Malabsorption</a>
|
|
</li></ul></li><li class="half_rhythm">Goldstein, Amy, MD; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/kss/?report=reader">Mitochondrial DNA Deletion Syndromes</a>
|
|
</li></ul></li><li class="half_rhythm">Goldstein, David B, PhD; Columbia University Irving Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gnb1-e/?report=reader">GNB1 Encephalopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Goldstein, Jennifer L, MS, PhD; University of North Carolina-Chapel Hill<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gsd1/?report=reader">Glycogen Storage Disease Type I</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/gsd9/?report=reader">Phosphorylase Kinase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Gomes, Alicia, MS; University of Alabama<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/schwann/?report=reader">LZTR1- and SMARCB1-Related Schwannomatosis</a>
|
|
</li></ul></li><li class="half_rhythm">Gomez-Ospina, Natalia, MD, PhD; Stanford University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mld/?report=reader">Arylsulfatase A Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Gomez, Christopher M, MD, PhD; University of Chicago<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca6/?report=reader">Spinocerebellar Ataxia Type 6</a>
|
|
</li></ul></li><li class="half_rhythm">Gonzalez-Gandolfi, Christina X; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sgbs/?report=reader">Simpson-Golabi-Behmel Syndrome Type 1</a>
|
|
</li></ul></li><li class="half_rhythm">Goodeve, Anne C, PhD; Sheffield Children's NHS Foundation Trust<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/von-willebrand/?report=reader">Von Willebrand Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Goodman, Stephen I, MD; University of Colorado<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/glutaric-a1/?report=reader">Glutaric Acidemia Type I</a>
|
|
</li></ul></li><li class="half_rhythm">Goodnight, Scott H, MD; Oregon Health and Science University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/factor-v-leiden/?report=reader">Factor V Leiden Thrombophilia</a>
|
|
</li></ul></li><li class="half_rhythm">Goodspeed, Kimberly, MD; University of Texas Southwestern Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/agu/?report=reader">Aspartylglucosaminuria</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/slc6a1-ndd/?report=reader">SLC6A1-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Gorcenco, Sorina, MD, PhD; Lund University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca4/?report=reader">Spinocerebellar Ataxia Type 4</a>
|
|
</li></ul></li><li class="half_rhythm">Gordillo, Miriam, PhD; Mount Sinai School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rbs/?report=reader">ESCO2 Spectrum Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Gordon, Christopher T, PhD; Institut Imagine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ankrd17-nds/?report=reader">ANKRD17-Related Neurodevelopmental Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/mn1-ctt/?report=reader">MN1 C-Terminal Truncation Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Gordon, Kristiana, MD; St George’s University Hospitals<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/milroy/?report=reader">Milroy Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Gordon, Leslie B, MD, PhD; Alpert Medical School of Brown University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hgps/?report=reader">Hutchinson-Gilford Progeria Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Gorell, Emily, DO, MS; University of Cincinnati College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/eb-pa/?report=reader">Epidermolysis Bullosa with Pyloric Atresia</a>
|
|
</li></ul></li><li class="half_rhythm">Gorman, Gráinne S, MBBCh, PhD; Newcastle University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/rrm2b-mtddepl/?report=reader">RRM2B Mitochondrial DNA Maintenance Defects</a>
|
|
</li></ul></li><li class="half_rhythm">Gorospe, J Rafael, MD, PhD; George Washington University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alexander/?report=reader">Alexander Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Gosky, Michael, BS, MS; University of Pittsburgh<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/lad-ad/?report=reader">LMNB1-Related Autosomal Dominant Leukodystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Gospe, Sidney M, MD, PhD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hmdpc/?report=reader">Hypermanganesemia with Dystonia 1</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/pds/?report=reader">Pyridoxine-Dependent Epilepsy - ALDH7A1</a>
|
|
</li></ul></li><li class="half_rhythm">Gossye, Helena, MD; University of Antwerp<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/als-ftd/?report=reader">C9orf72-Related Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia</a>
|
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</li></ul></li><li class="half_rhythm">Gottlieb, Bruce, PhD; McGill University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/androgen/?report=reader">Androgen Insensitivity Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Gottlob, Irene, MD; University of Leicester<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/xl-nystag/?report=reader">FRMD7-Related Infantile Nystagmus</a>
|
|
</li></ul></li><li class="half_rhythm">Goudy, Steven, MD; Vanderbilt University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/vws/?report=reader">IRF6-Related Disorders</a>
|
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</li></ul></li><li class="half_rhythm">Goulet, Olivier, MD, PhD; Hôpital Necker-Enfants Malades<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/sd-thes/?report=reader">Trichohepatoenteric Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Gouw, Launce G-C, MD, PhD; University of Utah School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/sca7/?report=reader">Spinocerebellar Ataxia Type 7</a>
|
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</li></ul></li><li class="half_rhythm">Govindaraj, Periyasamy, PhD; National Institute of Mental Health & Neurosciences<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/huppke-brendel/?report=reader">Huppke-Brendel Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Graham, Brett, MD, PhD; Indiana University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/tango2-mea/?report=reader">TANGO2 Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Graham, John M, MD, ScD; Cedars-Sinai Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/bohring-opitz/?report=reader">Bohring-Opitz Syndrome</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/kcnk9-is/?report=reader">KCNK9 Imprinting Syndrome</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/pik3ca-overgrowth/?report=reader">PIK3CA-Related Overgrowth Spectrum</a>
|
|
</li></ul></li><li class="half_rhythm">Graham, Rona K, PhD; University of Sherbrooke<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/huntington/?report=reader">Huntington Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Grand, Katheryn L, MS; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/wdr26-id/?report=reader">WDR26-Related Intellectual Disability</a>
|
|
</li></ul></li><li class="half_rhythm">Grange, Dorothy Katherine, MD; Washington University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cantu/?report=reader">Cantú syndrome</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/x-hed/?report=reader">Hypohidrotic Ectodermal Dysplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Graziano, Claudio, MD; Azienda USL della Romagna<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tbs/?report=reader">SALL1-Related Townes-Brocks Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Greally, Marie T, MD, MSc; Our Lady's Children's Hospital, Crumlin<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sgs/?report=reader">Shprintzen-Goldberg Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Greenbaum, Larry A, MD, PhD; Emory University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hered-drta/?report=reader">Hereditary Distal Renal Tubular Acidosis</a>
|
|
</li></ul></li><li class="half_rhythm">Greenberg, Samantha, MPH, MS; UT Southwestern Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/paragangliomas/?report=reader">Hereditary Paraganglioma-Pheochromocytoma Syndromes</a>
|
|
</li></ul></li><li class="half_rhythm">Greenblatt, Danielle, MB ChB; Guy's and St Thomas' NHS Foundation Trust<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ed2/?report=reader">Hidrotic Ectodermal Dysplasia 2</a>
|
|
</li></ul></li><li class="half_rhythm">Greene, Carol L, MD; University of Maryland School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pku/?report=reader">Phenylalanine Hydroxylase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Green, Eric D, MD, PhD; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pendred/?report=reader">SLC26A4-Related Sensorineural Hearing Loss</a>
|
|
</li></ul></li><li class="half_rhythm">Greengard, Emily G, MD; University of Minnesota Masonic Children’s Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alk-nbs/?report=reader">ALK-Related Neuroblastic Tumor Susceptibility</a>
|
|
</li></ul></li><li class="half_rhythm">Green, Glenn Edward, MD; University of Michigan<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bor/?report=reader">Branchiootorenal Spectrum Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/deafness-overview/?report=reader">Genetic Hearing Loss Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/jln/?report=reader">Jervell and Lange-Nielsen Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Green, Peter HR, MD; Columbia University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/celiac/?report=reader">Celiac Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Gregersen, Pernille Axél, MD, PhD; Aarhus University Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/collagen-2/?report=reader">Type II Collagen Disorders Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Gregory, Allison, MS; Oregon Health & Science University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bpan/?report=reader">Beta-Propeller Protein-Associated Neurodegeneration</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/fahn/?report=reader">Fatty Acid Hydroxylase-Associated Neurodegeneration</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/mecr-dis/?report=reader">MECR-Related Neurologic Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/mt-mpan/?report=reader">Mitochondrial Membrane Protein-Associated Neurodegeneration</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/nbia-ov/?report=reader">Neurodegeneration with Brain Iron Accumulation Disorders Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/pkan/?report=reader">Pantothenate Kinase-Associated Neurodegeneration</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/inad/?report=reader">PLA2G6-Associated Neurodegeneration</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/slc39a14-def/?report=reader">SLC39A14 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Grimaldi, Silvia, MD; Consorzio Siciliano di Riabilitazione – Associazione Italiana Assistenza Spastici (CSR-AIAS)<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/drpla/?report=reader">DRPLA</a>
|
|
</li></ul></li><li class="half_rhythm">Gripp, Karen W, MD; Alfred I duPont Hospital for Children<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ayme-gripp/?report=reader">Ayme-Gripp Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/costello/?report=reader">HRAS-Related Costello Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/lms/?report=reader">NOTCH3-Related Lateral Meningocele Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Grishchuk, Yulia, PhD; Harvard Medical School<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ml4/?report=reader">Mucolipidosis IV</a>
|
|
</li></ul></li><li class="half_rhythm">Groffen, Alexander J, PhD; Amsterdam University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rws/?report=reader">Long QT Syndrome Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Gropman, Andrea L, MD; Children's National Health System<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hpe-overview/?report=reader">Holoprosencephaly Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/sms/?report=reader">Smith-Magenis Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ucd-overview/?report=reader">Urea Cycle Disorders Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Gros-Louis, François, PhD; Université Laval<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/syne1ca-ar/?report=reader">SYNE1 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Gruber, Stephen B, MD, PhD; USC Norris Comprehensive Cancer Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hnpcc/?report=reader">Lynch Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Grzeschik, Karl-Heinz, PhD; Philipps-Universität<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/nsdhl-dis/?report=reader">NSDHL-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Grünert, Sarah C, MD; Medical Center-University of Freiburg<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gsd3/?report=reader">Glycogen Storage Disease Type III</a>
|
|
</li></ul></li><li class="half_rhythm">Guella, Ilaria, PhD; University of British Columbia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/lrrk2/?report=reader">LRRK2 Parkinson Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Guerin, Andrea, MD, MEd; Queen's University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/caffey/?report=reader">Caffey Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Gunay-Aygun, Meral, MD; Johns Hopkins University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alstrom/?report=reader">Alstrom Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/bbs/?report=reader">Bardet-Biedl Syndrome Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/mga3/?report=reader">Costeff Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Guo, Rose, DO; Cone Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mdel1q21_1/?report=reader">1q21.1 Recurrent Microdeletion</a>
|
|
</li></ul></li><li class="half_rhythm">Gupta, Karn, MD; Wake Forest University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mckd2/?report=reader">Autosomal Dominant Tubulointerstitial Kidney Disease -- UMOD</a>
|
|
</li></ul></li><li class="half_rhythm">Gupta, Rajat, MD; Birmingham Women's and Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/wfs/?report=reader">WFS1 Spectrum Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Gupta, Sweta, MD; Indiana Hemophilia & Thrombosis Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pai-1-def/?report=reader">Complete Plasminogen Activator Inhibitor 1 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Gurrola, Jose G, MD; University of Iowa<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dfnb9/?report=reader">OTOF-Related Deafness</a>
|
|
</li></ul></li><li class="half_rhythm">Guttmacher, Alan E, MD; National Institutes of Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hht/?report=reader">Hereditary Hemorrhagic Telangiectasia</a>
|
|
</li></ul></li><li class="half_rhythm">Günes, Nilay, MD; Istanbul University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tps/?report=reader">Trichorhinophalangeal Syndrome</a>
|
|
</li></ul></li></ul></div><div id="IX-H"><div class="h2"></div><ul class="simple-list"><li class="half_rhythm">Haack, Tobias, MD; Helmholtz Zentrum & Technische Universität München<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bpan/?report=reader">Beta-Propeller Protein-Associated Neurodegeneration</a>
|
|
</li></ul></li><li class="half_rhythm">Haan, J, MD, PhD; Leiden University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cadasil/?report=reader">CADASIL</a>
|
|
</li></ul></li><li class="half_rhythm">Haas-Givler, Barbara, MEd; Elwyn Training and Research Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sms/?report=reader">Smith-Magenis Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Hackman, Peter, PhD; University of Helsinki<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/salih-myo/?report=reader">Salih Myopathy</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/udd/?report=reader">Udd Distal Myopathy - Tibial Muscular Dystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Hack, Remco, MD; Leiden University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cadasil/?report=reader">CADASIL</a>
|
|
</li></ul></li><li class="half_rhythm">Hahn, Angelika F, MD; Western University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ciss/?report=reader">Cold-Induced Sweating Syndrome including Crisponi Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Haigh, Brendan, PhD; University of British Columbia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/huntington/?report=reader">Huntington Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Hain, Heather S, MS, PhD; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gr_22q11deletion/?report=reader">22q11.2 Deletion Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Hainque, Bernard, PhD; Assistance Publique - Hôpitaux de Paris<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hpp/?report=reader">Hypokalemic Periodic Paralysis</a>
|
|
</li></ul></li><li class="half_rhythm">Hakim, Alan, BA, MA, MBBChir; Harley Street Clinic<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/eds3/?report=reader">Hypermobile Ehlers-Danlos Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Hakola, Panu, MD, PhD; Niuvanniemi Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/plosl/?report=reader">Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Haldeman-Englert, Chad R, MD; Fullerton Genetics Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mdel1q21_1/?report=reader">1q21.1 Recurrent Microdeletion</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/bofs/?report=reader">Branchiooculofacial Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/gnas-dis/?report=reader">Disorders of GNAS Inactivation</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/craniosynostosis/?report=reader">FGFR Craniosynostosis Syndromes Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Halpern, Gabrielle J, ChB, MB; Rabin Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/fd/?report=reader">Familial Dysautonomia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/fmf/?report=reader">Familial Mediterranean Fever</a>
|
|
</li></ul></li><li class="half_rhythm">Haltia, Matti J, MD, PhD; University of Helsinki<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/plosl/?report=reader">Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Hamdan, Fadi F, PhD; CHU Ste-Justine Research Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/syngap1-id/?report=reader">SYNGAP1-Related Intellectual Disability</a>
|
|
</li></ul></li><li class="half_rhythm">Hamersma, Herman, MD; Flora Clinic<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sost/?report=reader">SOST-Related Sclerosing Bone Dysplasias</a>
|
|
</li></ul></li><li class="half_rhythm">Hamie, Lamiaa, MD, MSc; Mediclinic Middle East<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/nsdhl-dis/?report=reader">NSDHL-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Hamilton, Eline, MD; VU University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tubb4a-leuk/?report=reader">TUBB4A-Related Leukodystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Hammer, Michael F, PhD; University of Arizona<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/scn8a-ee/?report=reader">SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Hamosh, Ada, MD, MPH; Johns Hopkins University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/nkh/?report=reader">Nonketotic Hyperglycinemia</a>
|
|
</li></ul></li><li class="half_rhythm">Hampel, Heather, MS; The Ohio State University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/phts/?report=reader">PTEN Hamartoma Tumor Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Handley, Mark, PhD; University of Leeds<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rab18-def/?report=reader">RAB18 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Hanna, Michael G, BSc (Hons), MD; UCL Institute of Neurology Queen Square<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ea1/?report=reader">Episodic Ataxia Type 1</a>
|
|
</li></ul></li><li class="half_rhythm">Hannibal, Mark C, MD, PhD; University of Michigan Medical School<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ipex/?report=reader">IPEX Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/kabuki/?report=reader">Kabuki Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Hannig, Vickie L, MS; Vanderbilt Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/sedt/?report=reader">X-Linked Spondyloepiphyseal Dysplasia Tarda</a>
|
|
</li></ul></li><li class="half_rhythm">Hansen-Kiss, Emily, MA, MS; UTHealth School of Dentistry at Houston<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tooth-agenesis-ov/?report=reader">Nonsyndromic Tooth Agenesis Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Hansen, C David, MD; University of Utah<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pc/?report=reader">Pachyonychia Congenita</a>
|
|
</li></ul></li><li class="half_rhythm">Hanson, Ellen, PhD; Boston Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/del16p11_2/?report=reader">16p11.2 Recurrent Deletion</a>
|
|
</li></ul></li><li class="half_rhythm">Hanson, Nancy, MS; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/werner/?report=reader">Werner Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Haq, Ihtsham, MD; University of Miami<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rapid-odp/?report=reader">ATP1A3-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Harbison, Madeleine D, MD; Icahn School of Medicine at Mount Sinai<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rss/?report=reader">Silver-Russell Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Harlalka, Gaurav; St George's, University of London<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/spg20/?report=reader">Troyer Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Harms, Matthew M, MD; Washington University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tardbp-als/?report=reader">TARDBP-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementia</a>
|
|
</li></ul></li><li class="half_rhythm">Harris, Anne K, MPH; Childen's Minnesota<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pp-blastoma/?report=reader">DICER1 Tumor Predisposition</a>
|
|
</li></ul></li><li class="half_rhythm">Harris, James C, MD; Johns Hopkins University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/lns/?report=reader">HPRT1 Disorders</a>
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</li></ul></li><li class="half_rhythm">Harris, Peter C, PhD; Mayo Clinic<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/dent/?report=reader">Dent Disease</a>
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/pkd-ad/?report=reader">Polycystic Kidney Disease, Autosomal Dominant</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/ph1/?report=reader">Primary Hyperoxaluria Type 1</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/ph3/?report=reader">Primary Hyperoxaluria Type 3</a>
|
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</li></ul></li><li class="half_rhythm">Hartig, Monika, MD; Technische Universität München<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/mt-mpan/?report=reader">Mitochondrial Membrane Protein-Associated Neurodegeneration</a>
|
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</li></ul></li><li class="half_rhythm">Hartka, Thomas R, MS; George Washington University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ssadh/?report=reader">Succinic Semialdehyde Dehydrogenase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Hartley, Taila, MSc; Children's Hospital of Eastern Ontario Research Institute<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mf-dys-mic/?report=reader">Mandibulofacial Dysostosis with Microcephaly</a>
|
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</li></ul></li><li class="half_rhythm">Hart, P Suzanne, PhD; National Institutes of Health<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mckd2/?report=reader">Autosomal Dominant Tubulointerstitial Kidney Disease -- UMOD</a>
|
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</li></ul></li><li class="half_rhythm">Harvengt, Pol, PhD; XLH Belgium<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/rickets-xlh/?report=reader">X-Linked Hypophosphatemia</a>
|
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</li></ul></li><li class="half_rhythm">Hasan, Sonia M, PhD; Kuwait University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ea1/?report=reader">Episodic Ataxia Type 1</a>
|
|
</li></ul></li><li class="half_rhythm">Hasselblatt, Martin, MD; University Hospital Münster<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/rtps/?report=reader">Rhabdoid Tumor Predisposition Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Hathaway, Evan R, MS; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/sgbs/?report=reader">Simpson-Golabi-Behmel Syndrome Type 1</a>
|
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</li></ul></li><li class="half_rhythm">Haviland, Isabel, MD; Boston Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cdkl5-def/?report=reader">CDKL5 Deficiency Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Hayashi, Masahiro, MD, PhD; Yamagata University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/oca4/?report=reader">Oculocutaneous Albinism Type 4</a>
|
|
</li></ul></li><li class="half_rhythm">Hayden, Michael R, ChB, MB, PhD; University of British Columbia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/huntington/?report=reader">Huntington Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Hayflick, Susan J, MD; Oregon Health & Science University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bpan/?report=reader">Beta-Propeller Protein-Associated Neurodegeneration</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/fahn/?report=reader">Fatty Acid Hydroxylase-Associated Neurodegeneration</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/mecr-dis/?report=reader">MECR-Related Neurologic Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/mt-mpan/?report=reader">Mitochondrial Membrane Protein-Associated Neurodegeneration</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/nbia-ov/?report=reader">Neurodegeneration with Brain Iron Accumulation Disorders Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/pkan/?report=reader">Pantothenate Kinase-Associated Neurodegeneration</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/inad/?report=reader">PLA2G6-Associated Neurodegeneration</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/slc39a14-def/?report=reader">SLC39A14 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Hedera, Peter, MD, PhD; University of Louisville<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hsp/?report=reader">Hereditary Spastic Paraplegia Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/spg3a/?report=reader">Spastic Paraplegia 3A</a>
|
|
</li></ul></li><li class="half_rhythm">Hefner, Margaret A, MS; Saint Louis University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/charge/?report=reader">CHD7 Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Hegele, Robert A, MD; Western University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ab-lipo-p/?report=reader">Abetalipoproteinemia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/apob-hbl/?report=reader">APOB-Related Familial Hypobetalipoproteinemia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/cmr/?report=reader">Chylomicron Retention Disease</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/fch/?report=reader">Familial Combined Hypolipidemia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/lpl/?report=reader">Familial Lipoprotein Lipase Deficiency</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/tangier/?report=reader">Tangier Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Hehr, Ute, MD; Center for Human Genetics<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dcx/?report=reader">DCX-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Heidlebaugh, Alexis R, ScM; Geisinger Health System<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/chd8-ndd-og/?report=reader">CHD8-Related Neurodevelopmental Disorder with Overgrowth</a>
|
|
</li></ul></li><li class="half_rhythm">Heiman, Meadow, MS; Indiana Hemophilia & Thrombosis Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pai-1-def/?report=reader">Complete Plasminogen Activator Inhibitor 1 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Heimer, Gali, MD, PhD; Sheba Medical Center, Sackler School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mecr-dis/?report=reader">MECR-Related Neurologic Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/tecpr2-hsan-id/?report=reader">TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability </a>
|
|
</li></ul></li><li class="half_rhythm">Helbig, Ingo, MD; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/chd2-dis/?report=reader">CHD2-Related Neurodevelopmental Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Helbig, Katherine L, MS; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/scn3a-ndd/?report=reader">SCN3A-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Helsmoortel, Céline, MSc; University of Antwerp<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/adnp-dis/?report=reader">ADNP-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">He, Miao, PhD; University of Pennsylvania<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gale-def/?report=reader">Epimerase Deficiency Galactosemia</a>
|
|
</li></ul></li><li class="half_rhythm">Hennekam, Raoul CM, MD, PhD; Academic Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/peters-plus/?report=reader">Peters Plus Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/tbc1d24-dis/?report=reader">TBC1D24-Related Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/tps/?report=reader">Trichorhinophalangeal Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Hennermann, Julia B, MD, PhD; University Medical Center Mainz<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/nkh/?report=reader">Nonketotic Hyperglycinemia</a>
|
|
</li></ul></li><li class="half_rhythm">Heppner, Jonathan, PhD; University of British Columbia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mps1/?report=reader">Mucopolysaccharidosis Type I</a>
|
|
</li></ul></li><li class="half_rhythm">Herbert, Mrudu, MD, MPH; University of Kentucky<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gsd9/?report=reader">Phosphorylase Kinase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Herman, Gail Ellen, MD, PhD; Nationwide Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/x-dcdp/?report=reader">Chondrodysplasia Punctata 2, X-Linked</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/mtm/?report=reader">X-Linked Myotubular Myopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Herman, Isabella, MD, PhD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/entpd1-ndd/?report=reader">ENTPD1-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Hermann, Andreas, MD, PhD; University Medical Center Rostock<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/chac/?report=reader">VPS13A Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Hernández-Ramírez, Laura C, MD, PhD; Universidad Nacional Autónoma de México<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ipa/?report=reader">AIP Familial Isolated Pituitary Adenomas </a>
|
|
</li></ul></li><li class="half_rhythm">Hershberger, Ray E, MD; The Ohio State University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dcm-ov/?report=reader">Dilated Cardiomyopathy Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/dcm-lmna/?report=reader">LMNA-Related Dilated Cardiomyopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Hershfield, Michael, MD; Duke University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ada/?report=reader">Adenosine Deaminase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Hershkovitz, Tova, MD; The Genetics Institute - Rambam Health Care Campus<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/glyt1-dis/?report=reader">GLYT1 Encephalopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Heutink, Peter, PhD; Vrije Universiteit Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ftdp-17/?report=reader">MAPT-Related Frontotemporal Dementia</a>
|
|
</li></ul></li><li class="half_rhythm">Hicks, Debbie, PhD; University of Newcastle upon Tyne<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bethlem/?report=reader">Collagen VI-Related Dystrophies</a>
|
|
</li></ul></li><li class="half_rhythm">High, Frances A, MD, PhD; MassGeneral Hospital for Children<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cdh-ov/?report=reader">Congenital Diaphragmatic Hernia Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Hildebrand, Michael S, PhD; University of Melbourne<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dfna2/?report=reader">DFNA2 Nonsyndromic Hearing Loss</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/foxp2-sl-dis/?report=reader">FOXP2-Related Speech and Language Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/deafness-overview/?report=reader">Genetic Hearing Loss Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Hildebrandt, Friedhelm, MD; Boston Children’s Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sgpl1/?report=reader">Sphingosine Phosphate Lyase Insufficiency Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Hill, D Ashley, MD; George Washington University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pp-blastoma/?report=reader">DICER1 Tumor Predisposition</a>
|
|
</li></ul></li><li class="half_rhythm">Hines, Melissa, MD; St Jude Children's Research Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/x-lpd/?report=reader">X-Linked Lymphoproliferative Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Hing, Anne V, MD; Seattle Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/apert/?report=reader">Apert Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Hingorani, Melanie, MA, MBBS, MD; Moorfields Eye Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/aniridia/?report=reader">PAX6-Related Aniridia</a>
|
|
</li></ul></li><li class="half_rhythm">Hipp, Heather, MD; Emory University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/fragilex/?report=reader">FMR1 Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Hirano, Michio, MD; Columbia University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/melas/?report=reader">MELAS</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/merrf/?report=reader">MERRF</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/kss/?report=reader">Mitochondrial DNA Deletion Syndromes</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/mngie/?report=reader">Mitochondrial Neurogastrointestinal Encephalopathy Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Hirano, Ryuki, MD, PhD; Kagoshima University Graduate School of Medical and Dental Sciences<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/scan1/?report=reader">Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive</a>
|
|
</li></ul></li><li class="half_rhythm">Hirose, Shinichi, MD, PhD; Fukuoka University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/adnfle/?report=reader">Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy</a>
|
|
</li></ul></li><li class="half_rhythm">Hirst, Jennifer, PhD; University of Cambridge<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ap4-def/?report=reader">AP-4-Associated Hereditary Spastic Paraplegia</a>
|
|
</li></ul></li><li class="half_rhythm">Hisama, Fuki M, MD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/adcy5-dysk/?report=reader">ADCY5 Dyskinesia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/etha/?report=reader">SCN9A Neuropathic Pain Syndromes</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/werner/?report=reader">Werner Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Hisaund, Michael, BSc; University of Leicester<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/xl-nystag/?report=reader">FRMD7-Related Infantile Nystagmus</a>
|
|
</li></ul></li><li class="half_rhythm">Hoang, Stephanie, MSc; University of Alberta Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/choroid/?report=reader">Choroideremia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/retinoschisis/?report=reader">X-Linked Congenital Retinoschisis</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/csnb/?report=reader">X-Linked Congenital Stationary Night Blindness</a>
|
|
</li></ul></li><li class="half_rhythm">Hobbs, William, MD, PhD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sickle/?report=reader">Sickle Cell Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Hobson, Grace M, PhD; Nemours Alfred I duPont Hospital for Children<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pmld1/?report=reader">Pelizaeus-Merzbacher-Like Disease 1</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/pmd/?report=reader">PLP1 Disorders</a>
|
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</li></ul></li><li class="half_rhythm">Ho, Carolyn, MD; Brigham and Women's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hyper-card/?report=reader">Hypertrophic Cardiomyopathy Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Hodge, Jennelle, PhD; Cedars-Sinai Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dup17q12/?report=reader">17q12 Recurrent Duplication</a>
|
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</li></ul></li><li class="half_rhythm">Hoffman, Erin P, MS; Littleton Adventist Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/lal-def/?report=reader">Lysosomal Acid Lipase Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Hogarth, Penelope, MD; Oregon Health & Science University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/bpan/?report=reader">Beta-Propeller Protein-Associated Neurodegeneration</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/mecr-dis/?report=reader">MECR-Related Neurologic Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/mt-mpan/?report=reader">Mitochondrial Membrane Protein-Associated Neurodegeneration</a>
|
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</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/inad/?report=reader">PLA2G6-Associated Neurodegeneration</a>
|
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</li></ul></li><li class="half_rhythm">Ho, Gladys; The Children's Hospital at Westmead<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/rett/?report=reader">MECP2 Disorders</a>
|
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</li></ul></li><li class="half_rhythm">Holder-Espinasse, Muriel, MD, PhD; Guy's and St Thomas' NHS Trust<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/gr_3ms/?report=reader">3-M Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Holder, J Lloyd, MD, PhD; Texas Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/syngap1-id/?report=reader">SYNGAP1-Related Intellectual Disability</a>
|
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</li></ul></li><li class="half_rhythm">Holland, Steven M, MD; National Institute of Allergy and Infectious Diseases - NIH<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cgd/?report=reader">Chronic Granulomatous Disease</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/higes/?report=reader">STAT3 Hyper IgE Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Holm, Ida E, DMSc, MD; Aarhus University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ftd-chmp2b/?report=reader">CHMP2B Frontotemporal Dementia</a>
|
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</li></ul></li><li class="half_rhythm">Hong, Kui, MD, PhD; Heart Institute of Nanchang University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/brugada/?report=reader">Brugada Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Hoogerbrugge, Nicoline, MD, PhD; Radboud University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/nthl1-ts/?report=reader">NTHL1 Tumor Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Hooper, Amanda J, PhD; University of Western Australia<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ab-lipo-p/?report=reader">Abetalipoproteinemia</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/apob-hbl/?report=reader">APOB-Related Familial Hypobetalipoproteinemia</a>
|
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</li><li class="half_rhythm">
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<a href="/books/n/gene/cmr/?report=reader">Chylomicron Retention Disease</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/fch/?report=reader">Familial Combined Hypolipidemia</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/lpl/?report=reader">Familial Lipoprotein Lipase Deficiency</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/tangier/?report=reader">Tangier Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Hoover-Fong, Julie E, MD, PhD; Johns Hopkins University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cmt2c/?report=reader">Autosomal Dominant TRPV4 Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/nail-ps/?report=reader">Nail-Patella Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Hopfer, Suellen, MS, PhD; Pennsylvania State University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/bgc/?report=reader">Primary Familial Brain Calcification</a>
|
|
</li></ul></li><li class="half_rhythm">Hopkin, Robert J, MD; University of Cincinnati College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/abs/?report=reader">Cytochrome P450 Oxidoreductase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Hopkinson, Ian, BSc (Hons), MBChB, PhD; University College London<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alstrom/?report=reader">Alstrom Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Hopp, Katharina, PhD; Mayo Clinic - Minnesota<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/dent/?report=reader">Dent Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Horinouchi, Tomoko, MD, PhD; Kobe University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alport/?report=reader">Alport Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Horsthemke, Bernhard, PhD; University of Essen<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/retinoblastoma/?report=reader">Retinoblastoma</a>
|
|
</li></ul></li><li class="half_rhythm">Horvath, Anelia, PhD; National Institutes of Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/carney/?report=reader">Carney Complex</a>
|
|
</li></ul></li><li class="half_rhythm">Hosoi, Yasushi, MD; Hamamatsu University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/acp/?report=reader">Aceruloplasminemia</a>
|
|
</li></ul></li><li class="half_rhythm">Ho, Stephanie KL, MD; Clinical Genetic Service, Department of Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ctnnb1-ndd/?report=reader">CTNNB1 Neurodevelopmental Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/stromme/?report=reader">Strømme Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Houck, Kimberly, MD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tango2-mea/?report=reader">TANGO2 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Houge, Gunnar, MD, PhD; Haukeland University Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ppp2r1a-ndd/?report=reader">PPP2R1A-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Houlden, Henry, MD, PhD; University College London<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/drpla/?report=reader">DRPLA</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/fgf14-ataxia/?report=reader">GAA-FGF14-Related Ataxia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/gria2-ndd/?report=reader">GRIA2-Related Neurodevelopmental Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/nars1/?report=reader">NARS1-Related Neurologic Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/nkx6-2-spax/?report=reader">NKX6-2-Related Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/rfc1-canvas/?report=reader">RFC1 CANVAS / Spectrum Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/riboflavin-tn/?report=reader">Riboflavin Transporter Deficiency</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca11/?report=reader">Spinocerebellar Ataxia Type 11</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/wars2-def/?report=reader">WARS2 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Howard, Heidi C, PhD; Radboud University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/accpn/?report=reader">Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum</a>
|
|
</li></ul></li><li class="half_rhythm">Howard, Vanessa C, MSN, RN; St Jude Children's Research Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/xla/?report=reader">X-Linked Agammaglobulinemia</a>
|
|
</li></ul></li><li class="half_rhythm">Howe, James R, MD; University of Iowa Hospitals and Clinics<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/jps/?report=reader">Juvenile Polyposis Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Hoyme, H Eugene, MD; Sanford Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sys-h/?report=reader">Hyaline Fibromatosis Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Hoyos-Martinez, Alfonso, MD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tango2-mea/?report=reader">TANGO2 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Hsiung, Ging-Yuek Robin, MD, MHSc; University of British Columbia and Providence Health Care<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ftd-grn/?report=reader">GRN Frontotemporal Dementia</a>
|
|
</li></ul></li><li class="half_rhythm">Hsu, Amy P; National Institute of Allergy and Infectious Diseases<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/higes/?report=reader">STAT3 Hyper IgE Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Hudgins, Louanne, MD; Stanford University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/kabuki/?report=reader">Kabuki Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Huff, Vicki, PhD; University of Texas MD Anderson Cancer Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/wilms-ov/?report=reader">Wilms Tumor Predisposition</a>
|
|
</li></ul></li><li class="half_rhythm">Hufnagel, Robert B, MD, PhD; National Eye Institute - NIH<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pnpla6-dis/?report=reader">PNPLA6 Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Hughes, Derralynn A, DPhil, MA; University College Medical School<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/fabry/?report=reader">Fabry Disease</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/gaucher/?report=reader">Gaucher Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Huizing, Marjan, PhD; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mga3/?report=reader">Costeff Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ibm/?report=reader">GNE Myopathy</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/hps/?report=reader">Hermansky-Pudlak Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Hull, Judith L, MS; Memorial Sloan-Kettering Cancer Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/brca1/?report=reader">BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer</a>
|
|
</li></ul></li><li class="half_rhythm">Hull, Peter R, MD, PhD; Dalhousie University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pc/?report=reader">Pachyonychia Congenita</a>
|
|
</li></ul></li><li class="half_rhythm">Hulton, Sally-Anne, MD; Birmingham Children’s Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ph2/?report=reader">Primary Hyperoxaluria Type 2</a>
|
|
</li></ul></li><li class="half_rhythm">Hume, Stacey, PhD; University of Alberta<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/choroid/?report=reader">Choroideremia</a>
|
|
</li></ul></li><li class="half_rhythm">Hu, Mimi I, MD; The University of Texas MD Anderson Cancer Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hrpt2/?report=reader">CDC73-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Hundley, Rachel, PhD; Boston Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/del16p11_2/?report=reader">16p11.2 Recurrent Deletion</a>
|
|
</li></ul></li><li class="half_rhythm">Hunt, David, MBBS, PhD; Princess Anne Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pura-dis/?report=reader">PURA-Related Neurodevelopmental Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Hunter, Alasdair GW, MD; Children's Hospital of Eastern Ontario<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cls/?report=reader">RPS6KA3-Related Intellectual Disability</a>
|
|
</li></ul></li><li class="half_rhythm">Hunter, David G, MD, PhD; Children's Hospital Boston<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cfeom/?report=reader">Congenital Fibrosis of the Extraocular Muscles Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/duane/?report=reader">Duane Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Hunter, Elizabeth, BS; UTHealth School of Dentistry at Houston<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tooth-agenesis-ov/?report=reader">Nonsyndromic Tooth Agenesis Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Hunter, Jessica Ezzell, PhD; Kaiser Permanente Northwest<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/fragilex/?report=reader">FMR1 Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Hunter, JM, PhD; Nationwide Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sma-xli/?report=reader">Spinal Muscular Atrophy, X-Linked Infantile</a>
|
|
</li></ul></li><li class="half_rhythm">Huntsman, David G, MD; University of British Columbia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hgc/?report=reader">Diffuse Gastric and Lobular Breast Cancer Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Hupertz, Vera, MD; Cleveland Clinic<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alpha1-a/?report=reader">Alpha-1 Antitrypsin Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Huq, Mahbubul, MD, PhD; University of British Columbia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/huntington/?report=reader">Huntington Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Hurley, R Morrison, MD; British Columbia's Children's and Women's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ph1/?report=reader">Primary Hyperoxaluria Type 1</a>
|
|
</li></ul></li><li class="half_rhythm">Hurst, Anna CE, MD, MS; University of Alabama at Birmingham<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gnas-dis/?report=reader">Disorders of GNAS Inactivation</a>
|
|
</li></ul></li><li class="half_rhythm">Huryn, Laryssa A, MD; National Eye Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alpk1-auto/?report=reader">ALPK1-Related Autoinflammatory Disease</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/pp-blastoma/?report=reader">DICER1 Tumor Predisposition</a>
|
|
</li></ul></li><li class="half_rhythm">Huston, Haley, BS; Bloodworks Northwest<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hemo-a/?report=reader">Hemophilia A</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/hemo-b/?report=reader">Hemophilia B</a>
|
|
</li></ul></li><li class="half_rhythm">Huston, Sara, MS; Northwestern University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tcs/?report=reader">Treacher Collins Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Hutchinson, Anne L, BS; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alagille/?report=reader">Alagille Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Hyde, Samuel M, MMSc; University of Texas MD Anderson Cancer Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hrpt2/?report=reader">CDC73-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Häberle, Johannes, MD; University Children’s Hospital Zurich<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ca5a-def/?report=reader">Carbonic Anhydrase VA Deficiency</a>
|
|
</li></ul></li></ul></div><div id="IX-I"><div class="h2"></div><ul class="simple-list"><li class="half_rhythm">Iacovazzo, Donato, MD; Queen Mary University of London<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/x-ag/?report=reader">X-Linked Acrogigantism</a>
|
|
</li></ul></li><li class="half_rhythm">Idkowiak, Jan, MD, PhD; University of Birmingham<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/abs/?report=reader">Cytochrome P450 Oxidoreductase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Idos, Gregory, MD, MS; City of Hope National Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hnpcc/?report=reader">Lynch Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Iffland, Philip H, BA, MA, PhD; University of Maryland School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/kptn-dis/?report=reader">KPTN-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Ikeda, Marc D, MD; Children's Hospital of Pittsburgh<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/zap70-scid/?report=reader">ZAP70-Related Combined Immunodeficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Ikeda, Shu-ichi, MD, PhD; Shinshu University Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tfap/?report=reader">Hereditary Transthyretin Amyloidosis</a>
|
|
</li></ul></li><li class="half_rhythm">Ikeda, Yoshio, MD, PhD; Institute of Genetic Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca8/?report=reader">Spinocerebellar Ataxia Type 8</a>
|
|
</li></ul></li><li class="half_rhythm">Indo, Yasuhiro, MD, PhD; Kumamoto University Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hsan4/?report=reader">NTRK1 Congenital Insensitivity to Pain with Anhidrosis</a>
|
|
</li></ul></li><li class="half_rhythm">Infante, Elena, MS; University of Pittsburgh<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/maps/?report=reader">MUTYH Polyposis</a>
|
|
</li></ul></li><li class="half_rhythm">Innes, A Micheil, BSc, MD; University of Calgary<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/au-kline/?report=reader">Au-Kline Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/short/?report=reader">SHORT Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/thoc6-id/?report=reader">THOC6 Intellectual Disability Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/trpm3-ndd/?report=reader">TRPM3-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Innis, Jeffrey W, MD, PhD; University of Michigan<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hfg/?report=reader">Hand-Foot-Genital Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Introne, Wendy J, MD; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alkap/?report=reader">Alkaptonuria</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/chediak-higashi/?report=reader">Chediak-Higashi Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/hps/?report=reader">Hermansky-Pudlak Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Irons, Mira, MD; Children's Hospital Boston<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/slo/?report=reader">Smith-Lemli-Opitz Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Irving, Melita, MBBS, MD; Guy's and St Thomas' NHS Trust<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gr_3ms/?report=reader">3-M Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Isaacs, Adrian M, DPhil; University College London<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ftd-chmp2b/?report=reader">CHMP2B Frontotemporal Dementia</a>
|
|
</li></ul></li><li class="half_rhythm">Ison, Hannah E, MS; Stanford Center for Inherited Cardiovascular Disease<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hyperchol/?report=reader">Familial Hypercholesterolemia</a>
|
|
</li></ul></li><li class="half_rhythm">Ito, Daisuke, MD, PhD; Keio University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/spg17/?report=reader">BSCL2-Related Neurologic Disorders / Seipinopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Iwasa, Yoichiro, MD, PhD; University of Iowa<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pendred/?report=reader">SLC26A4-Related Sensorineural Hearing Loss</a>
|
|
</li></ul></li></ul></div><div id="IX-J"><div class="h2"></div><ul class="simple-list"><li class="half_rhythm">Jabs, Ethylin Wang, MD; Mayo Clinic<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rbs/?report=reader">ESCO2 Spectrum Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/stac3-dis/?report=reader">STAC3 Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/tcs/?report=reader">Treacher Collins Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Jackson, Andrew, PhD; University of Edinburgh<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mopd2/?report=reader">Microcephalic Osteodysplastic Primordial Dwarfism Type II</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/rnu4atac-dis/?report=reader">RNU4atac-opathy</a>
|
|
</li></ul></li><li class="half_rhythm">Jackson, Michelle A, MS; University of Texas MD Anderson Cancer Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hrpt2/?report=reader">CDC73-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Jacob, Prince, MSc, PhD; JSS Academy of Higher Education and Research<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hoxa1-dis/?report=reader">HOXA1-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">James, Aaron; University of California San Francisco<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sgbs/?report=reader">Simpson-Golabi-Behmel Syndrome Type 1</a>
|
|
</li></ul></li><li class="half_rhythm">James, Paula, MD; Queen's University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/von-willebrand/?report=reader">Von Willebrand Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Jankovic, Joseph, MD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/nkx2-1-dis/?report=reader">NKX2-1-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Jansen, Anna C, MD, PhD; Universitair Ziekenhuis Brussel<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/chrom17-lis/?report=reader">PAFAH1B1-Related Lissencephaly / Subcortical Band Heterotopia</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/lafora/?report=reader">Progressive Myoclonus Epilepsy, Lafora Type</a>
|
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</li></ul></li><li class="half_rhythm">Janssens, Veerle, PhD; KU Leuven<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ppp2r1a-ndd/?report=reader">PPP2R1A-Related Neurodevelopmental Disorder</a>
|
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</li></ul></li><li class="half_rhythm">Jasperson, Kory W; University of Utah<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/fap/?report=reader">APC-Associated Polyposis Conditions</a>
|
|
</li></ul></li><li class="half_rhythm">Jeffery, Steve, PhD; St George's University of London<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/lds/?report=reader">Lymphedema-Distichiasis Syndrome</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/milroy/?report=reader">Milroy Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Jen, Joanna C, MD, PhD; Icahn School of Medicine at Mount Sinai<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/fhm/?report=reader">Familial Hemiplegic Migraine</a>
|
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</li></ul></li><li class="half_rhythm">Jerves Serrano, Teodoro, MD; Yale School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/propionic-a/?report=reader">Propionic Acidemia</a>
|
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</li></ul></li><li class="half_rhythm">Jeste, Shafali Spurling, MD; Children's Hospital Los Angeles<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/dup15q/?report=reader">Maternal 15q Duplication Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Jethva, Reena, MD; St Christopher's Hospital for Children<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/scad/?report=reader">Short-Chain Acyl-CoA Dehydrogenase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Jewett, Tamison, MD; Wake Forest University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mdel1q21_1/?report=reader">1q21.1 Recurrent Microdeletion</a>
|
|
</li></ul></li><li class="half_rhythm">Jinnah, Hyder A, MD, PhD; Emory University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/lns/?report=reader">HPRT1 Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Jirsa, Milan, MD, PhD; Institute for Clinical and Experimental Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rotor/?report=reader">Rotor Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Johannesen, Katrine, MD, PhD; Rigshospitalet<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/slc6a1-ndd/?report=reader">SLC6A1-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Johann, Pascal, MD; German Cancer Consortium (DKTK)<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rtps/?report=reader">Rhabdoid Tumor Predisposition Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Johannsen, Peter, MD, PhD; Rigshospitalet<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ftd-chmp2b/?report=reader">CHMP2B Frontotemporal Dementia</a>
|
|
</li></ul></li><li class="half_rhythm">Johnsen, Jill, MD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/von-willebrand/?report=reader">Von Willebrand Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Johnson-Kerner, Bethany, MD, PhD; University of California, San Francisco<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ddx3x-ndd/?report=reader">DDX3X-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Johnson, Amanda; ARRE Foundation<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/shashi-pena/?report=reader">Shashi-Pena Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Johnson, Eric W, PhD; Barrow Neurological Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ccm/?report=reader">Familial Cerebral Cavernous Malformation</a>
|
|
</li></ul></li><li class="half_rhythm">Johnson, Judith, MS; Cincinnati Children's Hospital Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/alps/?report=reader">Autoimmune Lymphoproliferative Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/hlh/?report=reader">Familial Hemophagocytic Lymphohistiocytosis</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/was/?report=reader">WAS-Related Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/xlhi/?report=reader">X-Linked Hyper IgM Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/x-lpd/?report=reader">X-Linked Lymphoproliferative Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Johnson, Kyle P, MD; Oregon Health and Science University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sms/?report=reader">Smith-Magenis Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Johnson, Maribel J, MA, RN; Puget Sound Blood Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hemo-a/?report=reader">Hemophilia A</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/hemo-b/?report=reader">Hemophilia B</a>
|
|
</li></ul></li><li class="half_rhythm">Johnson, Rebecca H, MD; Seattle Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alk-nbs/?report=reader">ALK-Related Neuroblastic Tumor Susceptibility</a>
|
|
</li></ul></li><li class="half_rhythm">Johnston, Jennifer J, PhD; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gcps/?report=reader">Greig Cephalopolysyndactyly Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Jones, Mary-Kayt N, BA; University of Iowa Hospitals and Clinics<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dfnb1/?report=reader">GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss</a>
|
|
</li></ul></li><li class="half_rhythm">Jordan, Elizabeth, MMSc; The Ohio State University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dcm-ov/?report=reader">Dilated Cardiomyopathy Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/dcm-lmna/?report=reader">LMNA-Related Dilated Cardiomyopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Jorgenson, Ronald J, DDS, PhD; Consultant; formerly, President, Applied Genetics, Inc, Austin<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/x-hed/?report=reader">Hypohidrotic Ectodermal Dysplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Josephson, Neil C, MD; Seattle Genetics<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hemo-a/?report=reader">Hemophilia A</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/hemo-b/?report=reader">Hemophilia B</a>
|
|
</li></ul></li><li class="half_rhythm">Joshi, Nishtha; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bfns/?report=reader">KCNQ2-Related Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/kcnq3-dis/?report=reader">KCNQ3-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Jungbluth, Heinz, MD, PhD; King's College London<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dync1h1-dis/?report=reader">DYNC1H1-Related Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/epg5/?report=reader">EPG5-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Jung, Hans H, MD; University Hospital Zurich<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mcleod/?report=reader">McLeod Neuroacanthocytosis Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Jurgens, Julie A, PhD; Boston Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cfeom/?report=reader">Congenital Fibrosis of the Extraocular Muscles Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Jurkat-Rott, Karin, MD, PhD; Ulm University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hyper-pp/?report=reader">Hyperkalemic Periodic Paralysis</a>
|
|
</li></ul></li><li class="half_rhythm">Jägle, Herbert, MD; University of Regensburg<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/achm/?report=reader">Achromatopsia</a>
|
|
</li></ul></li></ul></div><div id="IX-K"><div class="h2"></div><ul class="simple-list"><li class="half_rhythm">Kaback, Michael M, MD; University of California, San Diego<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tay-sachs/?report=reader">HEXA Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Kacena, Melissa A, PhD; Indiana University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gata1/?report=reader">GATA1-Related Cytopenia</a>
|
|
</li></ul></li><li class="half_rhythm">Kagami, Masayo, MD, PhD; National Research Institute for Child Health and Development<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/kagami-ogata/?report=reader">Kagami-Ogata Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Kahle, Kristopher T, MD, PhD; Massachusetts General Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/muenke/?report=reader">Muenke Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/pha2/?report=reader">Pseudohypoaldosteronism Type II</a>
|
|
</li></ul></li><li class="half_rhythm">Kakhlon, Or, PhD; Hadassah-Hebrew University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/apbd/?report=reader">GBE1 Adult Polyglucosan Body Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Kalaydjieva, Luba, MD, PhD; The University of Western Australia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ccfdn/?report=reader">CTDP1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy</a>
|
|
</li></ul></li><li class="half_rhythm">Kaler, Stephen G, MD, MPH; The Ohio State University College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/menkes/?report=reader">ATP7A-Related Copper Transport Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Kalfa, Theodosia A, MD, PhD; Cincinnati Children's Hospital Medical Center and University of Cincinnati Medical School<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/epb42-spherocytosis/?report=reader">EPB42-Related Hereditary Spherocytosis</a>
|
|
</li></ul></li><li class="half_rhythm">Kalish, Jennifer M, MD, PhD; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bws/?report=reader">Beckwith-Wiedemann Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/sgbs/?report=reader">Simpson-Golabi-Behmel Syndrome Type 1</a>
|
|
</li></ul></li><li class="half_rhythm">Kalscheuer, Vera, PhD; Max Planck Institute for Molecular Genetics<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/clcn4-ndd/?report=reader">CLCN4-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Kamath, Binita M, MBBChir; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alagille/?report=reader">Alagille Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Kamholz, John, MD, PhD; University of Iowa Hospitals & Clinics<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pmd/?report=reader">PLP1 Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Kamihara, Junne, MD, PhD; Dana-Farber/Boston Children's Cancer and Blood Disorders Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pp-blastoma/?report=reader">DICER1 Tumor Predisposition</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/hlrcc/?report=reader">FH Tumor Predisposition Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Kamsteeg, Erik-Jan, MD, PhD; Radboud University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/arsacs/?report=reader">ARSACS</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ataxia-telangiectas/?report=reader">Ataxia-Telangiectasia</a>
|
|
</li></ul></li><li class="half_rhythm">Kang, Jingqiong, PhD; Vanderbilt University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/slc6a1-ndd/?report=reader">SLC6A1-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Kannu, Peter, MB ChB, PhD; The Hospital for Sick Children<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cherubism/?report=reader">Cherubism</a>
|
|
</li></ul></li><li class="half_rhythm">Kantarci, Sibel, PhD; Quest Diagnostics Nichols Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/donnai/?report=reader">Donnai-Barrow Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Kapferer-Seebacher, Ines, DMD; Medical University of Innsbruck<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/eds-pd/?report=reader">Periodontal Ehlers-Danlos Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Kaplan, Julie D, MD; Cleveland Clinic Foundation<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/myrf-cugs/?report=reader">MYRF-Related Cardiac Urogenital Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Karczeski, Barbara A, MA, MS; Johns Hopkins University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cf/?report=reader">Cystic Fibrosis</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/td/?report=reader">Thanatophoric Dysplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Karpati, George, MD; Montreal Neurological Institute<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ibm/?report=reader">GNE Myopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Kashtan, Clifford E, MD; University of Minnesota<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alport/?report=reader">Alport Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Kaspar, Roger L, PhD; Transderm, Inc<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pc/?report=reader">Pachyonychia Congenita</a>
|
|
</li></ul></li><li class="half_rhythm">Kastner, Dan, MD, PhD; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alpk1-auto/?report=reader">ALPK1-Related Autoinflammatory Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Kaurah, Pardeep, MSc, PhD; University of British Columbia<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hgc/?report=reader">Diffuse Gastric and Lobular Breast Cancer Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Kaur, Parneet, MSc; Manipal Academy of Higher Education<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/isca1-mmds/?report=reader">ISCA1-Related Multiple Mitochondrial Dysfunctions Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Kaur, Simranpreet, M Phil, MSc; University of Melbourne<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rett/?report=reader">MECP2 Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Kaya, Namik, PhD; King Faisal Specialist Hospital & Research Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/isca2-mt-dis/?report=reader">ISCA2-Related Mitochondrial Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/nkx6-2-spax/?report=reader">NKX6-2-Related Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/yif1b-ndd/?report=reader">YIF1B-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Kaylor, Julie, MS; Arkansas Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/satb2-dis/?report=reader">SATB2-Associated Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Kayser, Michael A, DO; Center for Genetic Testing at Saint Francis Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/alkap/?report=reader">Alkaptonuria</a>
|
|
</li></ul></li><li class="half_rhythm">Keats, Bronya JB, PhD; Louisiana State University Health Sciences Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/usher1/?report=reader">Usher Syndrome Type I</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/usher2/?report=reader">Usher Syndrome Type II</a>
|
|
</li></ul></li><li class="half_rhythm">Keegan, Catherine E, MD, PhD; University of Michigan<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/gonad-dys-46xy/?report=reader">Nonsyndromic Disorders of Testicular Development Overview</a>
|
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</li></ul></li><li class="half_rhythm">Kelkar, Janhawi, MD; Icahn School of Medicine at Mount Sinai<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/lathosterolosis/?report=reader">Lathosterolosis</a>
|
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</li></ul></li><li class="half_rhythm">Kelley, Philip M, PhD; Boys Town National Research Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/dfnb9/?report=reader">OTOF-Related Deafness</a>
|
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</li></ul></li><li class="half_rhythm">Kelly, Edward J, PhD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/bietti-cd/?report=reader">Bietti Crystalline Dystrophy</a>
|
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</li></ul></li><li class="half_rhythm">Kelly, Thaddeus E, MD, PhD; University of Virginia Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hypochondroplasia/?report=reader">Hypochondroplasia</a>
|
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</li></ul></li><li class="half_rhythm">Keppler-Noreuil, Kim, MD; University of Wisconsin School of Medicine and Public Health<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ce-dysp/?report=reader">Cranioectodermal Dysplasia</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/pik3ca-overgrowth/?report=reader">PIK3CA-Related Overgrowth Spectrum</a>
|
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</li></ul></li><li class="half_rhythm">Kerrigan, John F, MD; Phoenix Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/fum/?report=reader">Fumarate Hydratase Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Khaikin, Yannay, BSc; The Hospital for Sick Children<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/stxbp1-ee/?report=reader">STXBP1 Encephalopathy with Epilepsy</a>
|
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</li></ul></li><li class="half_rhythm">Khan, Sadiya S, MD; Northwestern University Feinberg School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pai-1-def/?report=reader">Complete Plasminogen Activator Inhibitor 1 Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Khaytin, Ilya, MD, PhD; Northwestern University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ondine/?report=reader">Congenital Central Hypoventilation Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Kibrom, Sara, MD; Stanford University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/amrf/?report=reader">SCARB2-Related Action Myoclonus – Renal Failure Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Kidd, Kendrah, MS; Wake Forest University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mckd1/?report=reader">Autosomal Dominant Tubulointerstitial Kidney Disease -- MUC1</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/hyper-nfj2/?report=reader">Autosomal Dominant Tubulointerstitial Kidney Disease -- REN</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/mckd2/?report=reader">Autosomal Dominant Tubulointerstitial Kidney Disease -- UMOD</a>
|
|
</li></ul></li><li class="half_rhythm">Kimberling, William J, PhD; Boys Town National Research Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/usher1/?report=reader">Usher Syndrome Type I</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/usher2/?report=reader">Usher Syndrome Type II</a>
|
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</li></ul></li><li class="half_rhythm">Kimonis, Virginia, MD; University of California Irvine Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ibmpfd/?report=reader">Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia</a>
|
|
</li></ul></li><li class="half_rhythm">Kinsley, Lisa, MS; Northwestern University Feinberg School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/als-overview/?report=reader">Amyotrophic Lateral Sclerosis Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Kirk, Jessica, BS; Yale University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/gata1/?report=reader">GATA1-Related Cytopenia</a>
|
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</li></ul></li><li class="half_rhythm">Kirmani, Salman, MBBS; Aga Khan University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/paragangliomas/?report=reader">Hereditary Paraganglioma-Pheochromocytoma Syndromes</a>
|
|
</li></ul></li><li class="half_rhythm">Kirschner, Lawrence, MD, PhD; The Ohio State University Comprehensive Cancer Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/men4/?report=reader">Multiple Endocrine Neoplasia Type 4</a>
|
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</li></ul></li><li class="half_rhythm">Kishnani, Priya S, MD; Duke University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/gsd1/?report=reader">Glycogen Storage Disease Type I</a>
|
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</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/gsd9/?report=reader">Phosphorylase Kinase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Kish, Stephen, PhD; University of Toronto<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/thdrd/?report=reader">Tyrosine Hydroxylase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Klaiman, Cheryl, PhD; Emory University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mdel3q29/?report=reader">3q29 Recurrent Deletion</a>
|
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</li></ul></li><li class="half_rhythm">Klar, Aharon, MD; Hebrew University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/insr-ir/?report=reader">INSR-Related Severe Insulin Resistance Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Klasson, Timothy D, BSc; University Medical Center Utrecht<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/vhl/?report=reader">Von Hippel-Lindau Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Kleefstra, Tjitske, MD, PhD; Radboud University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ddx3x-ndd/?report=reader">DDX3X-Related Neurodevelopmental Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/kleefstra/?report=reader">Kleefstra Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Klein-Tasman, Bonita P, PhD; University of Wisconsin-Milwaukee<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dup7q11_23/?report=reader">7q11.23 Duplication Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Klein, Christine, MD; University of Lübeck<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dystonia-ov/?report=reader">Hereditary Dystonia Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/jpd/?report=reader">Parkin Type of Early-Onset Parkinson Disease</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/pink1-pd/?report=reader">PINK1 Type of Young-Onset Parkinson Disease </a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/prrt2-parox/?report=reader">PRRT2-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Klein, Christopher J, MD; Mayo Clinic<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dnmt1-ddsn/?report=reader">DNMT1-Related Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/apbd/?report=reader">GBE1 Adult Polyglucosan Body Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Klein, Pierre, MSc; Université Pierre et Marie Curie<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/opmd/?report=reader">Oculopharyngeal Muscular Dystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Klein, Roger D, JD, MD; Cleveland Clinic<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cebpa-aml/?report=reader">CEBPA-Associated Familial Acute Myeloid Leukemia (AML)</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/paragangliomas/?report=reader">Hereditary Paraganglioma-Pheochromocytoma Syndromes</a>
|
|
</li></ul></li><li class="half_rhythm">Klein, Steven D, MD, PhD; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sgbs/?report=reader">Simpson-Golabi-Behmel Syndrome Type 1</a>
|
|
</li></ul></li><li class="half_rhythm">Kleta, Robert, MD, PhD; National Institutes of Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ctns/?report=reader">Cystinosis</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/issd/?report=reader">Free Sialic Acid Storage Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Kline, Antonie D, MD; Greater Baltimore Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/au-kline/?report=reader">Au-Kline Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Klopstock, Thomas, MD; University Hospital, LMU Munich<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mt-mpan/?report=reader">Mitochondrial Membrane Protein-Associated Neurodegeneration</a>
|
|
</li></ul></li><li class="half_rhythm">Kmiec, Tomasz, MD; Children’s Memorial Health Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mt-mpan/?report=reader">Mitochondrial Membrane Protein-Associated Neurodegeneration</a>
|
|
</li></ul></li><li class="half_rhythm">Kmoch, Stanislav, PhD; Charles University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mckd1/?report=reader">Autosomal Dominant Tubulointerstitial Kidney Disease -- MUC1</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/hyper-nfj2/?report=reader">Autosomal Dominant Tubulointerstitial Kidney Disease -- REN</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/mckd2/?report=reader">Autosomal Dominant Tubulointerstitial Kidney Disease -- UMOD</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/rotor/?report=reader">Rotor Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Knappskog, Per Morten, PhD; Haukeland University Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/adamtsl4-eyes/?report=reader">ADAMTSL4-Related Eye Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ciss/?report=reader">Cold-Induced Sweating Syndrome including Crisponi Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/csc-dys/?report=reader">Congenital Stromal Corneal Dystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Knight Johnson, Amy, MS; University of Chicago<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mody-ov/?report=reader">Maturity-Onset Diabetes of the Young Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Knisely, AS, MD; ZLP - Zentrum für Leber- und Pankreaspathologie<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pfic/?report=reader">ATP8B1 Deficiency</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/rotor/?report=reader">Rotor Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Knoers, Nine, MD, PhD; University Medical Center Groningen<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ce-dysp/?report=reader">Cranioectodermal Dysplasia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ndi/?report=reader">Hereditary Nephrogenic Diabetes Insipidus</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/nephron-ov/?report=reader">Nephronophthisis-Related Ciliopathies</a>
|
|
</li></ul></li><li class="half_rhythm">Knowles, Joshua W, MD, PhD; Stanford Center for Inherited Cardiovascular Disease<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hyperchol/?report=reader">Familial Hypercholesterolemia</a>
|
|
</li></ul></li><li class="half_rhythm">Knowles, Michael R, MD; University of North Carolina at Chapel Hill<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pcd/?report=reader">Primary Ciliary Dyskinesia</a>
|
|
</li></ul></li><li class="half_rhythm">Kobayashi, Keiko, PhD; Kagoshima University Graduate School of Medical and Dental Sciences<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/citrin/?report=reader">Citrin Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Kodati, Shilpa, MD; University of Michigan<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alpk1-auto/?report=reader">ALPK1-Related Autoinflammatory Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Koenekoop, Robert K, MD, PhD; McGill University Health Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/usher1/?report=reader">Usher Syndrome Type I</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/usher2/?report=reader">Usher Syndrome Type II</a>
|
|
</li></ul></li><li class="half_rhythm">Koene, Saskia, MD, PhD; Leiden University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/foxp1/?report=reader">FOXP1 Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Koenig, Mary Kay, MD; McGovern Medical School<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tuberous-sclerosis/?report=reader">Tuberous Sclerosis Complex</a>
|
|
</li></ul></li><li class="half_rhythm">Koenig, Michel, MD, PhD; Université de Montpellier<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/aoa2/?report=reader">Ataxia with Oculomotor Apraxia Type 2</a>
|
|
</li></ul></li><li class="half_rhythm">Kohlhase, Jürgen, MD; SYNLAB Center for Human Genetics<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tbs/?report=reader">SALL1-Related Townes-Brocks Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/drrs/?report=reader">SALL4-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Kohlmann, Wendy, MS; University of Michigan Health System<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hnpcc/?report=reader">Lynch Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Kohl, Susanne, MSc, PhD; Institute for Ophthalmic Research<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/achm/?report=reader">Achromatopsia</a>
|
|
</li></ul></li><li class="half_rhythm">Kolevzon, Alexander, MD; Icahn School of Medicine at Mount Sinai<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/foxp1/?report=reader">FOXP1 Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Konkle, Barbara A, MD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hemo-a/?report=reader">Hemophilia A</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/hemo-b/?report=reader">Hemophilia B</a>
|
|
</li></ul></li><li class="half_rhythm">Konno, Takuya, MD, PhD; Niigata University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/perry/?report=reader">DCTN1-Related Neurodegeneration</a>
|
|
</li></ul></li><li class="half_rhythm">Koolen, David A, MD, PhD; Radboud University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mdel17q21_31/?report=reader">Koolen-de Vries Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Kool, Marcel, PhD; German Cancer Consortium (DKTK)<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rtps/?report=reader">Rhabdoid Tumor Predisposition Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Kooy, Frank, PhD; University of Antwerp<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/adnp-dis/?report=reader">ADNP-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Korbonits, Márta, MD, PhD; Queen Mary University of London<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ipa/?report=reader">AIP Familial Isolated Pituitary Adenomas </a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/x-ag/?report=reader">X-Linked Acrogigantism</a>
|
|
</li></ul></li><li class="half_rhythm">Kordes, Uwe, MD; University Medical Center Hamburg – Eppendorf<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rtps/?report=reader">Rhabdoid Tumor Predisposition Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Korf, Bruce R, MD, PhD; University of Alabama at Birmingham<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dbmd/?report=reader">Dystrophinopathies</a>
|
|
</li></ul></li><li class="half_rhythm">Kornak, Uwe, MD, PhD; Universitätsmedizin Göttingen<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cutis-laxa/?report=reader">ATP6V0A2-Related Cutis Laxa</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/clcn7/?report=reader">CLCN7-Related Osteopetrosis</a>
|
|
</li></ul></li><li class="half_rhythm">Koskiniemi, Marja-Leena, MD, PhD; University of Helsinki<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/epm1/?report=reader">Progressive Myoclonic Epilepsy Type 1</a>
|
|
</li></ul></li><li class="half_rhythm">Kostic, Ana, PhD; Icahn School of Medicine at Mount Sinai<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/foxp1/?report=reader">FOXP1 Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Kowdley, Kris V, MD; Virginia Mason Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hemochromatosis/?report=reader">HFE-Related Hemochromatosis</a>
|
|
</li></ul></li><li class="half_rhythm">Koy, Anne, MD; University of Cologne<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gnao1-dis/?report=reader">GNAO1-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Kozycki, Christina, MD, MPH; National Institute of Allergy and Infectious Diseases<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alpk1-auto/?report=reader">ALPK1-Related Autoinflammatory Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Kraemer, Kenneth H, MD; National Cancer Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/xp/?report=reader">Xeroderma Pigmentosum</a>
|
|
</li></ul></li><li class="half_rhythm">Krahn, Katherine Nash, MS; University of Iowa<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/vws/?report=reader">IRF6-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Krajewski, Karen, MS; Wayne State University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pmd/?report=reader">PLP1 Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Kranc, Kamil R, DPhil, MD; Queen Mary University of London<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/fum/?report=reader">Fumarate Hydratase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Krantz, Ian D, MD; The Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/alagille/?report=reader">Alagille Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/cdls/?report=reader">Cornelia de Lange Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Krasnewich, Donna M, MD, PhD; National Institutes of Health<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cdg/?report=reader">Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview</a>
|
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</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/cdg-1a/?report=reader">PMM2-CDG</a>
|
|
</li></ul></li><li class="half_rhythm">Krause, Amanda, MBBCh, PhD; University of the Witwatersrand<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hd-l2/?report=reader">Huntington Disease-Like 2</a>
|
|
</li></ul></li><li class="half_rhythm">Krey, Ilona, MD; Univeristy of Leipzig Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/grin2d-dee/?report=reader">GRIN2D-Related Developmental and Epileptic Encephalopathy</a>
|
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</li></ul></li><li class="half_rhythm">Kriek, Marjolein, MD, PhD; Leiden University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/peters-plus/?report=reader">Peters Plus Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Kronn, David F, MD; New York Medical College<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/folate-mal/?report=reader">Hereditary Folate Malabsorption</a>
|
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</li></ul></li><li class="half_rhythm">Kruer, Michael C, MD; University of South Dakota Sanford School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/fahn/?report=reader">Fatty Acid Hydroxylase-Associated Neurodegeneration</a>
|
|
</li></ul></li><li class="half_rhythm">Kruszka, Paul, MD, MPH; GeneDx<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hpe-overview/?report=reader">Holoprosencephaly Overview</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/muenke/?report=reader">Muenke Syndrome</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/weiss-kruszka/?report=reader">Weiss-Kruszka Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Kucine, Nicole, MD, MS; Weill Cornell Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/bloom/?report=reader">Bloom Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Kuhlenbäumer, Gregor, MD, PhD; University of Kiel<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/gan/?report=reader">GAN-Related Neurodegeneration</a>
|
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</li></ul></li><li class="half_rhythm">Kuiper, Roland P, PhD; Princess Máxima Center for Pediatric Oncology<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/nthl1-ts/?report=reader">NTHL1 Tumor Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Kujovich, Jody L, MD; Oregon Health and Science University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/factor-v-leiden/?report=reader">Factor V Leiden Thrombophilia</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/ptt/?report=reader">Prothrombin Thrombophilia</a>
|
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</li></ul></li><li class="half_rhythm">Kumar, Ajith V, MD; Great Ormond Street Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/ipa/?report=reader">AIP Familial Isolated Pituitary Adenomas </a>
|
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</li></ul></li><li class="half_rhythm">Kumar, Anil; University of Leicester<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/xl-nystag/?report=reader">FRMD7-Related Infantile Nystagmus</a>
|
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</li></ul></li><li class="half_rhythm">Kumaran, Neruban, BSc, MBBS; University College London<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/lca-ov/?report=reader">Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview</a>
|
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</li></ul></li><li class="half_rhythm">Kumble, Smitha, MBBS; Murdoch Children's Research Institute<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/x-dcdp/?report=reader">Chondrodysplasia Punctata 2, X-Linked</a>
|
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</li></ul></li><li class="half_rhythm">Kupfer, Gary, MD; Yale University School of Medicine<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/fa/?report=reader">Fanconi Anemia</a>
|
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</li></ul></li><li class="half_rhythm">Kurahashi, Hirokazu, MD, PhD; Aichi Medical University<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/adnfle/?report=reader">Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy</a>
|
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</li></ul></li><li class="half_rhythm">Kurban, Mazen, MD; American University of Beirut Medical Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/nsdhl-dis/?report=reader">NSDHL-Related Disorders</a>
|
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</li></ul></li><li class="half_rhythm">Kurian, Manju A, MA, MBBChir, PhD; UCL Great Ormond Street Institute of Child Health<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/aadc-def/?report=reader">Aromatic L-Amino Acid Decarboxylase Deficiency</a>
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/bpan/?report=reader">Beta-Propeller Protein-Associated Neurodegeneration</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/dnajc6-pd/?report=reader">DNAJC6 Parkinson Disease</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/kmt2b-dystonia/?report=reader">KMT2B-Related Dystonia</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/nbia-ov/?report=reader">Neurodegeneration with Brain Iron Accumulation Disorders Overview</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/inad/?report=reader">PLA2G6-Associated Neurodegeneration</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/slc12a5-e/?report=reader">SLC12A5-Related Epilepsy of Infancy with Migrating Focal Seizures</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/slc39a14-def/?report=reader">SLC39A14 Deficiency</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/slc6a3-dtds/?report=reader">SLC6A3-Related Dopamine Transported Deficiency Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Kurolap, Alina, MSc, RN; The Genetics Institute - Rambam Health Care Campus<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/glyt1-dis/?report=reader">GLYT1 Encephalopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Kurth, Ingo, MD; Uniklinik RWTH Aachen<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hsan2/?report=reader">Hereditary Sensory and Autonomic Neuropathy Type II</a>
|
|
</li></ul></li><li class="half_rhythm">Kurtz-Nelson, Evangeline C, PhD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/chd8-ndd-og/?report=reader">CHD8-Related Neurodevelopmental Disorder with Overgrowth</a>
|
|
</li></ul></li><li class="half_rhythm">Kurtzman, Tracey L; University of Arizona Colleges of Medicine and Science<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/slo/?report=reader">Smith-Lemli-Opitz Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Kushner, Jessica D, MS; Oregon Health and Science University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/dcm-ov/?report=reader">Dilated Cardiomyopathy Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Kutler, Mary Jo, DO; The Snyder-Robinson Foundation<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/snyder-robinson/?report=reader">Snyder-Robinson Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Kutsche, Kerstin, PhD; University Medical Center Hamburg-Eppendorf<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cask-dis/?report=reader">CASK Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ebf3-ndd/?report=reader">EBF3 Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Kälviäinen, Reetta, MD, PhD; Kuopio University Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/epm1/?report=reader">Progressive Myoclonic Epilepsy Type 1</a>
|
|
</li></ul></li><li class="half_rhythm">Kölker, Stefan, MD; University Hospital Heidelberg<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/isovaleric-a/?report=reader">Classic Isovaleric Acidemia</a>
|
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</li></ul></li><li class="half_rhythm">König, Arne, MD; Philipps-Universität<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/nsdhl-dis/?report=reader">NSDHL-Related Disorders</a>
|
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</li></ul></li><li class="half_rhythm">Küry, Sébastien, DVM, PhD; Service de Génétique médicale – CHU<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hfpoik-tmp/?report=reader">Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis</a>
|
|
</li></ul></li></ul></div><div id="IX-L"><div class="h2"></div><ul class="simple-list"><li class="half_rhythm">La Spada, Albert R, MD, PhD; University of California Irvine School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/kennedy/?report=reader">Spinal and Bulbar Muscular Atrophy</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca7/?report=reader">Spinocerebellar Ataxia Type 7</a>
|
|
</li></ul></li><li class="half_rhythm">Labrador, Emma, RN; Connecticut Children’s Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gsd6/?report=reader">Glycogen Storage Disease Type VI</a>
|
|
</li></ul></li><li class="half_rhythm">Lacau St Guily, Jean, MD; Centre de Recherche en Myologie<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/opmd/?report=reader">Oculopharyngeal Muscular Dystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Lacbawan, Felicitas L, MD; Cleveland Clinic<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alpha1-a/?report=reader">Alpha-1 Antitrypsin Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Lachlan, Katherine, MD; Southampton University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/chd4-ndd/?report=reader">CHD4 Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Lai, Jennifer, MD; University of California San Francisco<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hcp/?report=reader">Hereditary Coproporphyria</a>
|
|
</li></ul></li><li class="half_rhythm">Laing, Nigel G, PhD; University of Western Australia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mpd1/?report=reader">Laing Distal Myopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Lai, Yi-Chen, MD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tango2-mea/?report=reader">TANGO2 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Laje, Gonzalo, MD; National Institute of Mental Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sms/?report=reader">Smith-Magenis Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Lalani, Seema R, MD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/charge/?report=reader">CHD7 Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/tango2-mea/?report=reader">TANGO2 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Lal, Dennis, PhD; Cleveland Clinic<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/slc6a1-ndd/?report=reader">SLC6A1-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Lam, Christina, MD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mcad/?report=reader">Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ngly1-cddg/?report=reader">NGLY1-Related Congenital Disorder of Deglycosylation</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/cdg-1a/?report=reader">PMM2-CDG</a>
|
|
</li></ul></li><li class="half_rhythm">Lamont, Phillipa, PhD; Royal Perth Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mpd1/?report=reader">Laing Distal Myopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Lampe, Anne Katrin, MD; Western General Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bethlem/?report=reader">Collagen VI-Related Dystrophies</a>
|
|
</li></ul></li><li class="half_rhythm">Lampe, Christina, MD; University of Giessen<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hunter/?report=reader">Mucopolysaccharidosis Type II</a>
|
|
</li></ul></li><li class="half_rhythm">Lamperti, Costanza, MD; IRCCS Foundation Carlo Besta Neurological Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ee/?report=reader">Ethylmalonic Encephalopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Lange, Dirk, PhD; University of British Columbia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ph1/?report=reader">Primary Hyperoxaluria Type 1</a>
|
|
</li></ul></li><li class="half_rhythm">Lange, Lara M, MD; University of Lübeck<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pink1-pd/?report=reader">PINK1 Type of Young-Onset Parkinson Disease </a>
|
|
</li></ul></li><li class="half_rhythm">Langer, Arielle L, MD, MPH; Brigham and Women's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/b-thal/?report=reader">Beta-Thalassemia</a>
|
|
</li></ul></li><li class="half_rhythm">Langer, Katherine, BA; Weill Cornell Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bloom/?report=reader">Bloom Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Lanpher, Brendan C, MD; Mayo Clinic<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ucd-overview/?report=reader">Urea Cycle Disorders Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Larizza, Lidia, MD; IRCSS Istituto Auxologico Italiano<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/bgs/?report=reader">Baller-Gerold Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/poikiloderma-n/?report=reader">Poikiloderma with Neutropenia</a>
|
|
</li></ul></li><li class="half_rhythm">Larkin, Allyson, MD; Children’s Hospital of Pittsburgh<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/zap70-scid/?report=reader">ZAP70-Related Combined Immunodeficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Larsen Haidle, Joy, MS; North Memorial Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/jps/?report=reader">Juvenile Polyposis Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Larsh, Travis R, MD; Cincinnati Children's Hospital and Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/irf2bpl-dis/?report=reader">IRF2BPL-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Larson, Austin, MD; University of Colorado<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/glutaric-a1/?report=reader">Glutaric Acidemia Type I</a>
|
|
</li></ul></li><li class="half_rhythm">LaRusch, Jessica, PhD; Ariel Precision Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pancreatitis-ov/?report=reader">Pancreatitis Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/prss1-hp/?report=reader">PRSS1-Related Hereditary Pancreatitis</a>
|
|
</li></ul></li><li class="half_rhythm">LaSalle, Janine M, PhD; University of California Davis School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dup15q/?report=reader">Maternal 15q Duplication Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Laugel, Vincent, MD, PhD; Laboratory of Medical Genetics<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cockayne/?report=reader">Cockayne Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Laurent, Michaël R, MD, PhD; University Hospitals Leuven<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rickets-xlh/?report=reader">X-Linked Hypophosphatemia</a>
|
|
</li></ul></li><li class="half_rhythm">Law, Linda, MBA, MD; Advicenne<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hered-drta/?report=reader">Hereditary Distal Renal Tubular Acidosis</a>
|
|
</li></ul></li><li class="half_rhythm">Lawlor, Michael W, MD, PhD; Medical College of Wisconsin<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mtm/?report=reader">X-Linked Myotubular Myopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Lawrence, Jessica, MSc; Alberta Health Services<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/bvd/?report=reader">Bestrophinopathies</a>
|
|
</li></ul></li><li class="half_rhythm">Layman, Lawrence C, MD; Medical College of Georgia<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/prop1/?report=reader">PROP1-Related Combined Pituitary Hormone Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Le Goff, Carine, PhD; INSERM U781<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/geleophys-dysp/?report=reader">Geleophysic Dysplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Leachman, Sancy A, MD, PhD; University of Utah<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pc/?report=reader">Pachyonychia Congenita</a>
|
|
</li></ul></li><li class="half_rhythm">Leach, Meganne E, MSN, PNP; Oregon Health and Science University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sma/?report=reader">Spinal Muscular Atrophy</a>
|
|
</li></ul></li><li class="half_rhythm">LeBlanc, Shannon, MBBS; University of Melbourne<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pycnodys/?report=reader">Pycnodysostosis</a>
|
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</li></ul></li><li class="half_rhythm">Lebwohl, Benjamin, MD, MS; Columbia University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/celiac/?report=reader">Celiac Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Ledbetter, David H, PhD; University of Florida College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mdel17q12/?report=reader">17q12 Recurrent Deletion Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/chd8-ndd-og/?report=reader">CHD8-Related Neurodevelopmental Disorder with Overgrowth</a>
|
|
</li></ul></li><li class="half_rhythm">Lee, Bo Hoon, MD; University of Rochester Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pura-dis/?report=reader">PURA-Related Neurodevelopmental Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Lee, Brendan H, MD, PhD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/args-aciduria/?report=reader">Argininosuccinate Lyase Deficiency</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/ccd/?report=reader">Cleidocranial Dysplasia Spectrum Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/kat6b-dis/?report=reader">KAT6B Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Lee, Chung U, MD; Stanford University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cact-def/?report=reader">Carnitine-Acylcarnitine Translocase Deficiency</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/merrf/?report=reader">MERRF</a>
|
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</li></ul></li><li class="half_rhythm">Lee, Kristen N, MD; University of Michigan<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cpt1a/?report=reader">Carnitine Palmitoyltransferase 1A Deficiency</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/ctlm/?report=reader">Citrullinemia Type I</a>
|
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</li></ul></li><li class="half_rhythm">Lee, Mianne, MSc; Univeristy of Hong Kong<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ctnnb1-ndd/?report=reader">CTNNB1 Neurodevelopmental Disorder</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/mn1-ctt/?report=reader">MN1 C-Terminal Truncation Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Lee, Soohee, PhD; The New York Blood Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mcleod/?report=reader">McLeod Neuroacanthocytosis Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Lee, Thomas, MD, MSc; University of Ottawa<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/bvd/?report=reader">Bestrophinopathies</a>
|
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</li></ul></li><li class="half_rhythm">Legare, Janet M, MD; University of Wisconsin<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/achondroplasia/?report=reader">Achondroplasia</a>
|
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</li></ul></li><li class="half_rhythm">Legius, Eric H, MD, PhD; University of Leuven<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/legius/?report=reader">Legius Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">LeGuern, Eric, MD, PhD; Hôpital de la Pitié-Salpêtrière<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cmt4c/?report=reader">SH3TC2-Related Hereditary Motor and Sensory Neuropathy</a>
|
|
</li></ul></li><li class="half_rhythm">Lehesjoki, Anna-Elina, MD, PhD; University of Helsinki<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mss/?report=reader">Marinesco-Sjogren Syndrome</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/epm1/?report=reader">Progressive Myoclonic Epilepsy Type 1</a>
|
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</li></ul></li><li class="half_rhythm">Lehman, April N, MD; The Ohio State University College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pdc/?report=reader">Pyruvate Carboxylase Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Lehman, Christopher, MS; Geisinger Health System<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/del16p11_2/?report=reader">16p11.2 Recurrent Deletion</a>
|
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</li></ul></li><li class="half_rhythm">Lehmann-Horn, Frank, MD, MS, PhD; Ulm University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hyper-pp/?report=reader">Hyperkalemic Periodic Paralysis</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/hpp/?report=reader">Hypokalemic Periodic Paralysis</a>
|
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</li></ul></li><li class="half_rhythm">Lehmberg, Kai, MD; University Medical Center Eppendorf<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hlh/?report=reader">Familial Hemophagocytic Lymphohistiocytosis</a>
|
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</li></ul></li><li class="half_rhythm">Leiding, Jennifer W, MD; Johns Hopkins University<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/cgd/?report=reader">Chronic Granulomatous Disease</a>
|
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</li></ul></li><li class="half_rhythm">Leigh, Margaret W, MD; University of North Carolina at Chapel Hill<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/pcd/?report=reader">Primary Ciliary Dyskinesia</a>
|
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</li></ul></li><li class="half_rhythm">Leistritz, Dru F, MS; University of Washington Medical Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/werner/?report=reader">Werner Syndrome</a>
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</li></ul></li><li class="half_rhythm">Lemire, Gabrielle, MD; Children's Hospital of Eastern Ontario Research Institute<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/kat6b-dis/?report=reader">KAT6B Disorders</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/thoc6-id/?report=reader">THOC6 Intellectual Disability Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Lemke, Johannes R, MD; University of Leipzig Medical Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/grin1-ndd/?report=reader">GRIN1-Related Neurodevelopmental Disorder</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/grin2a-dis/?report=reader">GRIN2A-Related Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/grin2b/?report=reader">GRIN2B-Related Neurodevelopmental Disorder</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/grin2d-dee/?report=reader">GRIN2D-Related Developmental and Epileptic Encephalopathy</a>
|
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</li></ul></li><li class="half_rhythm">Lemmers, Richard JLF, PhD; Leiden University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/fsh/?report=reader">Facioscapulohumeral Muscular Dystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Lemmink, Henny, PhD; University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ndi/?report=reader">Hereditary Nephrogenic Diabetes Insipidus</a>
|
|
</li></ul></li><li class="half_rhythm">Lentz, Jennifer J, PhD; Louisiana State University Health Sciences Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/usher1/?report=reader">Usher Syndrome Type I</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/usher2/?report=reader">Usher Syndrome Type II</a>
|
|
</li></ul></li><li class="half_rhythm">Leonard, Helen, MBChB, MPH; Telethon Kids Institute<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cdkl5-def/?report=reader">CDKL5 Deficiency Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Leonard, Laura D, BA; Children’s Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alagille/?report=reader">Alagille Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Leroy, Bart P, MD, PhD; Ghent University Hospital & Ghent University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/refsum/?report=reader">Adult Refsum Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Leroy, Jules G, MD, PhD; Ghent University Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ml2/?report=reader">GNPTAB-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Leslie, Elizabeth J, PhD; Emory University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/vws/?report=reader">IRF6-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Leslie, Nancy D, MD; Cincinnati Children's Hospital Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gsd2/?report=reader">Pompe Disease</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/vlcad/?report=reader">Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Lesnik Oberstein, Saskia AJ, MD, PhD; Leiden University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cadasil/?report=reader">CADASIL</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/peters-plus/?report=reader">Peters Plus Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Letra, Ariadne, DDS, MS, PhD; UTHealth School of Dentistry at Houston<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tooth-agenesis-ov/?report=reader">Nonsyndromic Tooth Agenesis Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Leturcq, France, MD; Hôpital Cochin<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/edmd/?report=reader">Emery-Dreifuss Muscular Dystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Leung, Alva, BS; California Pacific Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sgbs/?report=reader">Simpson-Golabi-Behmel Syndrome Type 1</a>
|
|
</li></ul></li><li class="half_rhythm">Leung, Lai Ting, MD; Clinical Genetic Service, Department of Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/stromme/?report=reader">Strømme Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Leuzzi, Vincenzo, MD; Sapienza Università di Roma<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/me-ataxia/?report=reader">PRICKLE1-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Levade, Thierry, MD, PhD; Centre de Recherches en Cancérologie de Toulouse<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/asah1/?report=reader">ASAH1-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Leventer, Richard J, BMedSci, MBBS, PhD; Royal Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pura-dis/?report=reader">PURA-Related Neurodevelopmental Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Levine, Michael A, MD; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gnas-dis/?report=reader">Disorders of GNAS Inactivation</a>
|
|
</li></ul></li><li class="half_rhythm">Levy-Lahad, Ephrat, MD; Sharre Zedek Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/brca1/?report=reader">BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer</a>
|
|
</li></ul></li><li class="half_rhythm">Levy, Amanda M, MSc; Rigshospitalet<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dlg4-synap/?report=reader">DLG4-Related Synaptopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Levy, Harvey L, MD; Boston Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/homocystinuria/?report=reader">Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Levy, Howard P, MD, PhD; Johns Hopkins University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/eds3/?report=reader">Hypermobile Ehlers-Danlos Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Levy, Rebecca V, BM BCh, MSc; University of Rochester Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mdel17q12/?report=reader">17q12 Recurrent Deletion Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Lewandowska, Magdalena, MD; Indiana Hemophilia & Thrombosis Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pai-1-def/?report=reader">Complete Plasminogen Activator Inhibitor 1 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Lewis, David B, MD; Stanford University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/siod/?report=reader">Schimke Immunoosseous Dysplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Lewis, Richard Alan, MD, MS; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/lowe/?report=reader">Lowe Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Lichter-Konecki, Uta, MD, PhD; UPMC Children’s Hospital of Pittsburgh<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/otc-def/?report=reader">Ornithine Transcarbamylase Deficiency</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ucd-overview/?report=reader">Urea Cycle Disorders Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Li, Chumei, MD, PhD; McMaster University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mota/?report=reader">FREM1 Autosomal Recessive Disorders </a>
|
|
</li></ul></li><li class="half_rhythm">Liebau, Max, MD; University of Cologne<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pkd-ar/?report=reader">Autosomal Recessive Polycystic Kidney Disease – PKHD1</a>
|
|
</li></ul></li><li class="half_rhythm">Lieske, John C, MD; Mayo Clinic<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dent/?report=reader">Dent Disease</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ph1/?report=reader">Primary Hyperoxaluria Type 1</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ph3/?report=reader">Primary Hyperoxaluria Type 3</a>
|
|
</li></ul></li><li class="half_rhythm">Li, Frederick, MD; Dana Farber Cancer Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/li-fraumeni/?report=reader">Li-Fraumeni Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Li, Hong, MD, PhD; Emory University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ctcf-dis/?report=reader">CTCF-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Lilien, Marc, MD, PhD; University Medical Center Utrecht<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/nephron-ov/?report=reader">Nephronophthisis-Related Ciliopathies</a>
|
|
</li></ul></li><li class="half_rhythm">Li, Longchuan, PhD; Emory University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mdel3q29/?report=reader">3q29 Recurrent Deletion</a>
|
|
</li></ul></li><li class="half_rhythm">Lim, Albert Z, MBBS (Hons); Newcastle University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rrm2b-mtddepl/?report=reader">RRM2B Mitochondrial DNA Maintenance Defects</a>
|
|
</li></ul></li><li class="half_rhythm">Lin, Angela E, MD; MassGeneral Hospital for Children<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bofs/?report=reader">Branchiooculofacial Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ce-dysp/?report=reader">Cranioectodermal Dysplasia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/costello/?report=reader">HRAS-Related Costello Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/mn1-ctt/?report=reader">MN1 C-Terminal Truncation Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/myhre/?report=reader">Myhre Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Lindhurst, Marjorie J, PhD; National Institutes of Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/amish-mcph/?report=reader">SLC25A19-Related Thiamine Metabolism Dysfunction</a>
|
|
</li></ul></li><li class="half_rhythm">Lindor, Noralane M, MD; Mayo Clinic<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/myhre/?report=reader">Myhre Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Lindsay, Mark E, MD, PhD; MassGeneral Hospital for Children<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/myhre/?report=reader">Myhre Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Lines, Matthew, MD, MSc; University of Calgary<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mf-dys-mic/?report=reader">Mandibulofacial Dysostosis with Microcephaly</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/trpm3-ndd/?report=reader">TRPM3-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Links, Thera P, MD, PhD; University Medical Center Groningen<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/vhl/?report=reader">Von Hippel-Lindau Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Lin, Xi, MD, PhD; University of Texas Medical Branch<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca1/?report=reader">Spinocerebellar Ataxia Type 1</a>
|
|
</li></ul></li><li class="half_rhythm">Lippa, Natalie, MS; Columbia University Vagelos College of Physicians and Surgeons<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/csnk2b-ndd/?report=reader">CSNK2B-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Lippner, Elizabeth, MD; Ann & Robert H. Lurie Children's Hospital of Chicago<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/siod/?report=reader">Schimke Immunoosseous Dysplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Lipska-Zietkiewicz, Beata S, MD, PhD; Medical University of Gdansk<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/srns-ov/?report=reader">Genetic Steroid-Resistant Nephrotic Syndrome Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/wt1-dis/?report=reader">WT1 Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Liu, Lawrence U, MD; Icahn School of Medicine at Mount Sinai<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/porphyria-ct/?report=reader">Familial Porphyria Cutanea Tarda</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/hep/?report=reader">Hepatoerythropoietic Porphyria</a>
|
|
</li></ul></li><li class="half_rhythm">Liu, Paul, MD, PhD; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/runx1/?report=reader">RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies</a>
|
|
</li></ul></li><li class="half_rhythm">Lloyd, Ricardo V, MD, PhD; Mayo Clinic<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/paragangliomas/?report=reader">Hereditary Paraganglioma-Pheochromocytoma Syndromes</a>
|
|
</li></ul></li><li class="half_rhythm">Lochmüller, Hanns, MD; Children's Hospital of Eastern Ontario Research Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cms/?report=reader">Congenital Myasthenic Syndromes Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Loeys, Bart L, MD, PhD; Antwerp University Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/efemp2-cutis-laxa/?report=reader">EFEMP2-Related Cutis Laxa</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/fbln5-cutis-laxa/?report=reader">FBLN5-Related Cutis Laxa</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/loeys-dietz/?report=reader">Loeys-Dietz Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Lohmann, Dietmar R, MD; University Hospital Essen<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/retinoblastoma/?report=reader">Retinoblastoma</a>
|
|
</li></ul></li><li class="half_rhythm">Lohmann, Katja, PhD; University of Lübeck<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dystonia-ov/?report=reader">Hereditary Dystonia Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Lohr, Jamie, MD; University of Minnesota Amplatz Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rob-ad/?report=reader">Autosomal Dominant Robinow Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Lo, Ivan FM, MD; Clinical Genetic Service, Department of Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ctnnb1-ndd/?report=reader">CTNNB1 Neurodevelopmental Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/fam111a-dysp/?report=reader">FAM111A-Related Skeletal Dysplasias</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/stromme/?report=reader">Strømme Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Longoni, Mauro, MD; Harvard Medical School<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cdh-ov/?report=reader">Congenital Diaphragmatic Hernia Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/donnai/?report=reader">Donnai-Barrow Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Loomes, Kathleen M, MD; University of Pennsylvania<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alagille/?report=reader">Alagille Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Lopez, Christina, BS; California Pacific Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sgbs/?report=reader">Simpson-Golabi-Behmel Syndrome Type 1</a>
|
|
</li></ul></li><li class="half_rhythm">LoPiccolo, Mary Kate, MD; Icahn School of Medicine at Mount Sinai<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/lchad/?report=reader">Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Lory, Philippe, PhD; Université de Montpellier 1 et 2<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hpp/?report=reader">Hypokalemic Periodic Paralysis</a>
|
|
</li></ul></li><li class="half_rhythm">Lossie, Amy C; University of Florida College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/angelman/?report=reader">Angelman Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Lossos, Alexander, MD; Hadassah-Hebrew University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/apbd/?report=reader">GBE1 Adult Polyglucosan Body Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Lotze, Timothy, MD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cmt2d/?report=reader">GARS-Associated Axonal Neuropathy</a>
|
|
</li></ul></li><li class="half_rhythm">Louie, Raymond J, PhD; Greenwood Genetic Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ipex/?report=reader">IPEX Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Lou, Shu, MD; University of British Columbia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/siod/?report=reader">Schimke Immunoosseous Dysplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Loyd, James E, MD; Vanderbilt University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pph/?report=reader">Heritable Pulmonary Arterial Hypertension Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Lubarr, Naomi, MD; Beth Israel Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dystonia/?report=reader">DYT1 Early-Onset Isolated Dystonia</a>
|
|
</li></ul></li><li class="half_rhythm">Luchsinger, Kadi, BS; Dup15q Alliance<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/dup15q/?report=reader">Maternal 15q Duplication Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Lucia, Alejandro, MD, PhD; European University of Madrid<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/gsd5/?report=reader">Glycogen Storage Disease Type V</a>
|
|
</li></ul></li><li class="half_rhythm">Lucking, Christoph, MD; Ludwig-Maximilians-University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/jpd/?report=reader">Parkin Type of Early-Onset Parkinson Disease</a>
|
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</li></ul></li><li class="half_rhythm">Lucky, Anne W, MD; Cincinnati Children's Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/ebd/?report=reader">Dystrophic Epidermolysis Bullosa</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/ebs/?report=reader">Epidermolysis Bullosa Simplex</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/eb-pa/?report=reader">Epidermolysis Bullosa with Pyloric Atresia</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/ebj/?report=reader">Junctional Epidermolysis Bullosa</a>
|
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</li></ul></li><li class="half_rhythm">Luk, Ho-ming, MD; Hong Kong Children’s Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/ctnnb1-ndd/?report=reader">CTNNB1 Neurodevelopmental Disorder</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/fam111a-dysp/?report=reader">FAM111A-Related Skeletal Dysplasias</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/stromme/?report=reader">Strømme Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Lupski, James R, MD, PhD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/sms/?report=reader">Smith-Magenis Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Lusk, Laina, MMSc; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/dup15q/?report=reader">Maternal 15q Duplication Syndrome</a>
|
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</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/pacs1-ndd/?report=reader">PACS1 Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Lyman, Benjamin, DO; LSU Health Science Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cf/?report=reader">Cystic Fibrosis</a>
|
|
</li></ul></li><li class="half_rhythm">Lynch, Henry, MD; Creighton University Hereditary Cancer Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/maps/?report=reader">MUTYH Polyposis</a>
|
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</li></ul></li><li class="half_rhythm">Lyons, Michael J, MD; Greenwood Genetic Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/fg/?report=reader">MED12-Related Disorders</a>
|
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</li></ul></li><li class="half_rhythm">Lücke, Thomas, MD, PhD; Hannover Medical School<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/siod/?report=reader">Schimke Immunoosseous Dysplasia</a>
|
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</li></ul></li><li class="half_rhythm">Lüdecke, Hermann-Josef, PhD; Universitätsklinikum Düsseldorf<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/burn-mckeown/?report=reader">TXNL4A-Related Craniofacial Disorders</a>
|
|
</li></ul></li></ul></div><div id="IX-M"><div class="h2"></div><ul class="simple-list"><li class="half_rhythm">Maas, Saskia, MD; University of Amsterdam<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tps/?report=reader">Trichorhinophalangeal Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Maccollin, Mia M, MD; Harvard Medical School/Massachusetts General Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/nf2/?report=reader">NF2-Related Schwannomatosis</a>
|
|
</li></ul></li><li class="half_rhythm">Macdermott, Seamus, MD; Torbay Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alstrom/?report=reader">Alstrom Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">MacDonald, Ian M, MDCM; University of Alberta<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/bvd/?report=reader">Bestrophinopathies</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/choroid/?report=reader">Choroideremia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/weill-ms/?report=reader">Weill-Marchesani Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/retinoschisis/?report=reader">X-Linked Congenital Retinoschisis</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/csnb/?report=reader">X-Linked Congenital Stationary Night Blindness</a>
|
|
</li></ul></li><li class="half_rhythm">MacDonald, Stella K, BSc; Children's Hospital of Eastern Ontario Research Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mf-dys-mic/?report=reader">Mandibulofacial Dysostosis with Microcephaly</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/vldlr-ch/?report=reader">VLDLR Cerebellar Hypoplasia</a>
|
|
</li></ul></li><li class="half_rhythm">MacFarland, Suzanne P, MD; Children’s Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/jps/?report=reader">Juvenile Polyposis Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">MacFarlane, Julie, MS; Xenon Pharmaceuticals Inc<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/jh/?report=reader">Juvenile Hemochromatosis</a>
|
|
</li></ul></li><li class="half_rhythm">Machol, Keren, MD, PhD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ccd/?report=reader">Cleidocranial Dysplasia Spectrum Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Machowicz, Rafal, MD; Medical University of Warsaw<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hlh/?report=reader">Familial Hemophagocytic Lymphohistiocytosis</a>
|
|
</li></ul></li><li class="half_rhythm">Mackay, Deborah JG, MA, PhD; Salisbury NHS Foundation Trust<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dmtn/?report=reader">Diabetes Mellitus, 6q24-Related Transient Neonatal</a>
|
|
</li></ul></li><li class="half_rhythm">MacKenzie, Alex, MD; Children's Hospital of Eastern Ontario<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dlg4-synap/?report=reader">DLG4-Related Synaptopathy</a>
|
|
</li></ul></li><li class="half_rhythm">MacLeod, Erin, PhD, RD; Children's National Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/otc-def/?report=reader">Ornithine Transcarbamylase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">MacLeod, Heather, MS; University of Chicago<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/arvd/?report=reader">Arrhythmogenic Right Ventricular Cardiomyopathy Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Maconachie, Gail, BSc, PhD; University of Leicester<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/xl-nystag/?report=reader">FRMD7-Related Infantile Nystagmus</a>
|
|
</li></ul></li><li class="half_rhythm">Madhok, Sehajvir, MD; Columbia University Irving Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hnrnph2-ndd/?report=reader">HNRNPH2-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Magenis, Ellen, MD; Oregon Health and Science University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sms/?report=reader">Smith-Magenis Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Magoulas, Pilar L, MS; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gsd4/?report=reader">Glycogen Storage Disease Type IV</a>
|
|
</li></ul></li><li class="half_rhythm">Mahadeo, Kris M, MD, MPH; Albert Einstein College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/folate-mal/?report=reader">Hereditary Folate Malabsorption</a>
|
|
</li></ul></li><li class="half_rhythm">Mah, Dean Y, MD, MSc; University of Alberta<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bvd/?report=reader">Bestrophinopathies</a>
|
|
</li></ul></li><li class="half_rhythm">Maher, Eamonn R, MD; University of Cambridge<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/inad/?report=reader">PLA2G6-Associated Neurodegeneration</a>
|
|
</li></ul></li><li class="half_rhythm">Mahtani, Karishma, BSc; Atwal Clinic: Genomic & Personalized Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mc-def/?report=reader">Molybdenum Cofactor Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Maillard, Camille, PhD; Université de Paris<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tubulin-ov/?report=reader">Tubulinopathies Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Makaryan, Vahagn, MD; University of Washington Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cyclic-n/?report=reader">ELANE-Related Neutropenia</a>
|
|
</li></ul></li><li class="half_rhythm">Mak, Christopher CY, MB ChB, PhD; University of Hong Kong<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mn1-ctt/?report=reader">MN1 C-Terminal Truncation Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Malfait, Fransiska, MD, PhD; Ghent University Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/eds/?report=reader">Classic Ehlers-Danlos Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Malicdan, May Christine V, MD, PhD; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/chediak-higashi/?report=reader">Chediak-Higashi Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ibm/?report=reader">GNE Myopathy</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/hps/?report=reader">Hermansky-Pudlak Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Malm, Dag, MD, PhD; Tromsø Center of Internal Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/a-mannosidosis/?report=reader">Alpha-Mannosidosis</a>
|
|
</li></ul></li><li class="half_rhythm">Mancini, Cecilia, PhD; University of Turin<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca28/?report=reader">Spinocerebellar Ataxia Type 28</a>
|
|
</li></ul></li><li class="half_rhythm">Mandell, Roseann; Massachusetts General Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/fum/?report=reader">Fumarate Hydratase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Mannens, Marcel MAM, PhD; University of Amsterdam<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rws/?report=reader">Long QT Syndrome Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Manohar, Vaishnavi, MT; King's College London<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tardbp-als/?report=reader">TARDBP-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementia</a>
|
|
</li></ul></li><li class="half_rhythm">Manole, Andreea, BSc, PhD; UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/riboflavin-tn/?report=reader">Riboflavin Transporter Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Manoli, Irini, MD, PhD; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mma/?report=reader">Isolated Methylmalonic Acidemia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/stac3-dis/?report=reader">STAC3 Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Mansour, Sahar; St George's, University of London<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/lds/?report=reader">Lymphedema-Distichiasis Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/milroy/?report=reader">Milroy Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Mao, Rong, MD; University of Utah<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/legius/?report=reader">Legius Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Marafi, Dana, MD, MSc; Kuwait University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/el-hattab-alkuraya/?report=reader">El-Hattab-Alkuraya Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Marazita, Mary L, PhD; University of Pittsburgh<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ondine/?report=reader">Congenital Central Hypoventilation Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Marbach, Felix, MD; Heidelberg University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/schaaf-yang/?report=reader">Schaaf-Yang Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Marcelis, Carlo LM, MD; Radboud University Nijmegen Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/feingold/?report=reader">Feingold Syndrome 1</a>
|
|
</li></ul></li><li class="half_rhythm">Marchuk, Douglas, PhD; Duke University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ccm/?report=reader">Familial Cerebral Cavernous Malformation</a>
|
|
</li></ul></li><li class="half_rhythm">Marcogliese, Paul C, PhD; University of Manitoba<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/irf2bpl-dis/?report=reader">IRF2BPL-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Marconi, Roberto, MD; Ospedale Misericordia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/spg7/?report=reader">Spastic Paraplegia 7</a>
|
|
</li></ul></li><li class="half_rhythm">Marcucci, Guido, MD; Ohio State University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cebpa-aml/?report=reader">CEBPA-Associated Familial Acute Myeloid Leukemia (AML)</a>
|
|
</li></ul></li><li class="half_rhythm">Margolis, Russell L, MD; Johns Hopkins University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hd-l2/?report=reader">Huntington Disease-Like 2</a>
|
|
</li></ul></li><li class="half_rhythm">Marini, Francesca, PhD; Italian Foundation for Research on Bone Diseases<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/men1/?report=reader">Multiple Endocrine Neoplasia Type 1</a>
|
|
</li></ul></li><li class="half_rhythm">Markovitz, Rebecca, MD, PhD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cmt2d/?report=reader">GARS-Associated Axonal Neuropathy</a>
|
|
</li></ul></li><li class="half_rhythm">Mark, Paul, MD; Michigan State University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/nad-def/?report=reader">Congenital NAD Deficiency Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Marquard, Jessica, MS; Cleveland Clinic<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/men2/?report=reader">Multiple Endocrine Neoplasia Type 2</a>
|
|
</li></ul></li><li class="half_rhythm">Marquardt, Thorsten, Dr. med.; Universitätsklinikum Münster<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/slc39a8-cdg/?report=reader">SLC39A8-CDG</a>
|
|
</li></ul></li><li class="half_rhythm">Marras, Connie, MD, PhD; University of Toronto<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dystonia-ov/?report=reader">Hereditary Dystonia Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Marshall, Jan D, MS; The Jackson Laboratory<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alstrom/?report=reader">Alstrom Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Marshall, Susan G, MD; University of Washington School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cf/?report=reader">Cystic Fibrosis</a>
|
|
</li></ul></li><li class="half_rhythm">Marsh, Eric D, MD, PhD; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cdkl5-def/?report=reader">CDKL5 Deficiency Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Marsh, Rebecca A, MD; Cincinnati Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hlh/?report=reader">Familial Hemophagocytic Lymphohistiocytosis</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/x-lpd/?report=reader">X-Linked Lymphoproliferative Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Martin, Christa L, PhD; Geisinger Health System<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mdel17q12/?report=reader">17q12 Recurrent Deletion Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/chd8-ndd-og/?report=reader">CHD8-Related Neurodevelopmental Disorder with Overgrowth</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/pacs1-ndd/?report=reader">PACS1 Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Martin, Donna M, MD, PhD; University of Michigan<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/charge/?report=reader">CHD7 Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Martin, George M, MD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/werner/?report=reader">Werner Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Martin, Jack W, MD; The University of Texas MD Anderson Cancer Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hrpt2/?report=reader">CDC73-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Martin, Rick A, MD; Saint Louis University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hunter/?report=reader">Mucopolysaccharidosis Type II</a>
|
|
</li></ul></li><li class="half_rhythm">Martín, Bertha, PhD; University of Iowa<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mpgn/?report=reader">C3 Glomerulopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Martín, Miguel A, PhD; Hospital 12 de Octubre Research Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gsd5/?report=reader">Glycogen Storage Disease Type V</a>
|
|
</li></ul></li><li class="half_rhythm">Marzin, Pauline, MD; Paris Cité University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/geleophys-dysp/?report=reader">Geleophysic Dysplasia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/weill-ms/?report=reader">Weill-Marchesani Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Mastrangelo, Mario, MD, PhD; Sapienza Università di Roma<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/me-ataxia/?report=reader">PRICKLE1-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Mastrianni, James A, MD, PhD; University of Chicago<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/prion/?report=reader">Genetic Prion Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Matalon, Reuben, MD, PhD; University of Texas Medical Branch<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/canavan/?report=reader">Canavan Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Matern, Dietrich, MD, PhD; Mayo Clinic College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mcad/?report=reader">Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Mathews, Jennifer, MS; University of North Carolina at Chapel Hill<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/angelman/?report=reader">Angelman Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Mathieu, Jean, MD; Complexe Hospitalier de la Sagamie<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/arsacs/?report=reader">ARSACS</a>
|
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</li></ul></li><li class="half_rhythm">Matilla-Dueñas, Antoni, BSc, MSc, PhD; Germans Trias i Pujol Research Institute<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/sca37/?report=reader">Spinocerebellar Ataxia Type 37</a>
|
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</li></ul></li><li class="half_rhythm">Matsumoto, Naomichi, MD, PhD; Yokohama City University Graduate School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/coffin-siris/?report=reader">Coffin-Siris Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Matsuura, Tohru, MD; Jichi Medical University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca10/?report=reader">Spinocerebellar Ataxia Type 10</a>
|
|
</li></ul></li><li class="half_rhythm">Mattison, Kari; Mayo Clinic - Minnesota<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/dent/?report=reader">Dent Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Matton, Charlotte, MSc; Ghent University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/bpes/?report=reader">Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Mavrogiannis, Lampros A, DPhil, MSc; St James's University Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/msx2/?report=reader">Enlarged Parietal Foramina</a>
|
|
</li></ul></li><li class="half_rhythm">May, Francis, MD; NewYork-Presbyterian/Weill Cornell Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/nbs/?report=reader">SMARCA2-Related Nicolaides-Baraitser Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Mazzanti, Andrea, MD, PhD; ICS Maugeri<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cvt/?report=reader">Catecholaminergic Polymorphic Ventricular Tachycardia</a>
|
|
</li></ul></li><li class="half_rhythm">Mazzeu, Juliana, PhD; University of Brasília<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rob-ad/?report=reader">Autosomal Dominant Robinow Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">McCarthy, Liam, MD; Birmingham Women's and Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/wfs/?report=reader">WFS1 Spectrum Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">McCormick, Elizabeth M, MS; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pdhc-def-ov/?report=reader">Primary Pyruvate Dehydrogenase Complex Deficiency Overview</a>
|
|
</li></ul></li><li class="half_rhythm">McCormick, Sally PA, PhD; University of Otago<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tangier/?report=reader">Tangier Disease</a>
|
|
</li></ul></li><li class="half_rhythm">McCray, Brett A, MD, PhD; Johns Hopkins University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cmt2c/?report=reader">Autosomal Dominant TRPV4 Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">McDaniel, D Olga, PhD; University of Mississippi Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca3/?report=reader">Spinocerebellar Ataxia Type 3</a>
|
|
</li></ul></li><li class="half_rhythm">McDermott, Deborah A, MS; Consultant, Human Genetics and Genetic Counseling<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hos/?report=reader">Holt-Oram Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">McDonald-McGinn, Donna M, MS; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gr_22q11deletion/?report=reader">22q11.2 Deletion Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">McDonald, Jamie, MS; University of Utah Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hht/?report=reader">Hereditary Hemorrhagic Telangiectasia</a>
|
|
</li></ul></li><li class="half_rhythm">McDonell, Laura M, MD, PhD; Dalhousie University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/miccap-ms/?report=reader">Microcephaly-Capillary Malformation Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">McFarland, Robert, MA, MBBS, PhD; Newcastle University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rrm2b-mtddepl/?report=reader">RRM2B Mitochondrial DNA Maintenance Defects</a>
|
|
</li></ul></li><li class="half_rhythm">McFarquhar, Ashley, BSc; McGill University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/smdcf/?report=reader">Spondylometaphyseal Dysplasia, Corner Fracture Type</a>
|
|
</li></ul></li><li class="half_rhythm">McGarrity, Thomas J, MD; Milton S Hershey Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pjs/?report=reader">Peutz-Jeghers Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">McGovern, Margaret M, MD, PhD; Stony Brook University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/npab/?report=reader">Acid Sphingomyelinase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">McIntosh, Iain, PhD; American University of the Caribbean<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/nail-ps/?report=reader">Nail-Patella Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">McLean, WH Irwin, DSc; University of Dundee<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pc/?report=reader">Pachyonychia Congenita</a>
|
|
</li></ul></li><li class="half_rhythm">McMullin, Mary Frances, MD; Queens University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pfcp/?report=reader">Primary Familial and Congenital Erythrocytosis</a>
|
|
</li></ul></li><li class="half_rhythm">McNally, Elizabeth, MD, PhD; University of Chicago<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/arvd/?report=reader">Arrhythmogenic Right Ventricular Cardiomyopathy Overview</a>
|
|
</li></ul></li><li class="half_rhythm">McNiven, Vanda, MD, MSc; McMaster Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/au-kline/?report=reader">Au-Kline Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">McTaggart, Kerry, MSc; National Institutes of Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/choroid/?report=reader">Choroideremia</a>
|
|
</li></ul></li><li class="half_rhythm">McTague, Amy, MBChB; UCL Great Ormond Street Institute of Child Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/slc12a5-e/?report=reader">SLC12A5-Related Epilepsy of Infancy with Migrating Focal Seizures</a>
|
|
</li></ul></li><li class="half_rhythm">Medico-Salsench, Eva, MSc; Erasmus MC University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/yif1b-ndd/?report=reader">YIF1B-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Medin, Jeffrey A, PhD; Medical College of Wisconsin<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/asah1/?report=reader">ASAH1-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Medne, Livija, MS; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/emanuel/?report=reader">Emanuel Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Mefford, Heather C, MD, PhD; St Jude Children's Research Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mdel15q13_3/?report=reader">15q13.3 Recurrent Deletion</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/dup17q12/?report=reader">17q12 Recurrent Duplication</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/chd2-dis/?report=reader">CHD2-Related Neurodevelopmental Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/gnai1-ndd/?report=reader">GNAI1-Related Neurodevelopmental Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/scn8a-ee/?report=reader">SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Mehta, Atul, MA, MD; Royal Free Hospital and University College London School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/fabry/?report=reader">Fabry Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Mehta, Parinda A, MD; Cincinnati Children's Hospital Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/fa/?report=reader">Fanconi Anemia</a>
|
|
</li></ul></li><li class="half_rhythm">Meijer, Inge A, MD, PhD; Université de Montréal<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/spg8/?report=reader">Spastic Paraplegia 8</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/vps13d-md/?report=reader">VPS13D Movement Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Meisler, Miriam H, PhD; University of Michigan<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/scn8a-ee/?report=reader">SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Mele, Caterina, Biol Sci D; Istituto di Ricerche Farmacologiche Mario Negri–IRCCS<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/husa/?report=reader">Genetic Atypical Hemolytic-Uremic Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Mellerio, Jemima, BSc, MBBS, MD; Guy's and St Thomas' NHS Foundation Trust<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ed2/?report=reader">Hidrotic Ectodermal Dysplasia 2</a>
|
|
</li></ul></li><li class="half_rhythm">Mellgren, Anne Elisabeth Christensen, MD, PhD; University of Bergen<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/adamtsl4-eyes/?report=reader">ADAMTSL4-Related Eye Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Melo de Gusmao, Claudio, MD; Boston Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/drpla/?report=reader">DRPLA</a>
|
|
</li></ul></li><li class="half_rhythm">Meltzer, Meira Rina, MA, MS; National Institutes of Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/choroid/?report=reader">Choroideremia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/retinoschisis/?report=reader">X-Linked Congenital Retinoschisis</a>
|
|
</li></ul></li><li class="half_rhythm">Mendonca, Berenice B, MD; Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/prop1/?report=reader">PROP1-Related Combined Pituitary Hormone Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Mendoza-Londono, Roberto, MD, MS; The Hospital for Sick Children and University of Toronto<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/caffey/?report=reader">Caffey Disease</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ccd/?report=reader">Cleidocranial Dysplasia Spectrum Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/mbd5-dis/?report=reader">MBD5 Haploinsufficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Menezes, Simone, BS; UTHealth School of Dentistry at Houston<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tooth-agenesis-ov/?report=reader">Nonsyndromic Tooth Agenesis Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Menichelli, Danilo, MD; Sapienza University of Rome<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/factor-v-leiden/?report=reader">Factor V Leiden Thrombophilia</a>
|
|
</li></ul></li><li class="half_rhythm">Mercier, Sandra, MD, PhD; Service de Génétique médicale – CHU<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hfpoik-tmp/?report=reader">Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis</a>
|
|
</li></ul></li><li class="half_rhythm">Mercimek-Andrews, Saadet, MD, PhD; University of Alberta<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/creatine/?report=reader">Creatine Deficiency Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/stxbp1-ee/?report=reader">STXBP1 Encephalopathy with Epilepsy</a>
|
|
</li></ul></li><li class="half_rhythm">Merideth, Melissa A, MD, MPH; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pp-blastoma/?report=reader">DICER1 Tumor Predisposition</a>
|
|
</li></ul></li><li class="half_rhythm">Merkens, Louise S, PhD; Oregon Health & Science University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/stsl/?report=reader">Sitosterolemia</a>
|
|
</li></ul></li><li class="half_rhythm">Merla, Giuseppe; University of Naples Federico II<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gnb5-ndd/?report=reader">GNB5-Related Neurodevelopmental Disorder </a>
|
|
</li></ul></li><li class="half_rhythm">Meroni, Germana, PhD; University of Trieste<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/opitz/?report=reader">MID1-Related Opitz G/BBB Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Merritt, J Lawrence, MD; Seattle Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mcad/?report=reader">Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Mervis, Carolyn B, PhD; University of Louisville<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dup7q11_23/?report=reader">7q11.23 Duplication Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Mesika, Aviv; Bar-Ilan University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/insr-ir/?report=reader">INSR-Related Severe Insulin Resistance Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Messiaen, Ludwine, MD; University of Alabama<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/schwann/?report=reader">LZTR1- and SMARCB1-Related Schwannomatosis</a>
|
|
</li></ul></li><li class="half_rhythm">Messinger, Yoav, MD; Children’s Hospitals and Clinics of Minnesota<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pp-blastoma/?report=reader">DICER1 Tumor Predisposition</a>
|
|
</li></ul></li><li class="half_rhythm">Meyer, Esther, PhD; UCL Great Ormond Street Institute of Child Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/slc39a14-def/?report=reader">SLC39A14 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Meyer, Lauren, MD, PhD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/x-lpd/?report=reader">X-Linked Lymphoproliferative Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Miceli, Francesco, PhD; University of Naples Federico II<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bfns/?report=reader">KCNQ2-Related Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/kcnq3-dis/?report=reader">KCNQ3-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Michaelides, Michel, BSc, MBBS, MD; University College London<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/lca-ov/?report=reader">Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Michael, Julianne, MS; Spectrum Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bachmann-bupp/?report=reader">Bachmann-Bupp Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Michals-Matalon, Kimberlee, PhD, RD; University of Houston<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/canavan/?report=reader">Canavan Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Michaud, Jacques L, MD; CHU Ste-Justine Research Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/syngap1-id/?report=reader">SYNGAP1-Related Intellectual Disability</a>
|
|
</li></ul></li><li class="half_rhythm">Michelucci, Roberto, MD, PhD; Bellaria Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/peaf/?report=reader">Autosomal Dominant Epilepsy with Auditory Features</a>
|
|
</li></ul></li><li class="half_rhythm">Milewicz, Dianna M, MD, PhD; University of Texas Health Science Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/taa/?report=reader">Heritable Thoracic Aortic Disease Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Miller, Daniel Guthrie, MD, PhD; Seattle Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/fsh/?report=reader">Facioscapulohumeral Muscular Dystrophy</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/craniosynostosis/?report=reader">FGFR Craniosynostosis Syndromes Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Miller, David T, MD, PhD; Boston Children's Hospital / Harvard Medical School<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/del16p11_2/?report=reader">16p11.2 Recurrent Deletion</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/dbmd/?report=reader">Dystrophinopathies</a>
|
|
</li></ul></li><li class="half_rhythm">Miller, Ian O, MD; Miami Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gefs/?report=reader">SCN1A-Related Seizure Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Miller, Jennifer L, MD, MS; University of Florida College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pws/?report=reader">Prader-Willi Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Miller, Timothy M, MD, PhD; Washington University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tardbp-als/?report=reader">TARDBP-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementia</a>
|
|
</li></ul></li><li class="half_rhythm">Miller, Vanessa Rangel, MS; Emory University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mws/?report=reader">Mowat-Wilson Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Milliner, Dawn S, MD; Mayo Clinic<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/dent/?report=reader">Dent Disease</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ph1/?report=reader">Primary Hyperoxaluria Type 1</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ph3/?report=reader">Primary Hyperoxaluria Type 3</a>
|
|
</li></ul></li><li class="half_rhythm">Mills, Philippa B, PhD; UCL Great Ormond Street Institute of Child Health<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hmdpc/?report=reader">Hypermanganesemia with Dystonia 1</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/pnpo-def/?report=reader">PNPO Deficiency</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/slc39a14-def/?report=reader">SLC39A14 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Milstone, Leonard M, MD; Yale University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pc/?report=reader">Pachyonychia Congenita</a>
|
|
</li></ul></li><li class="half_rhythm">Miltenberger-Miltenyi, Gabriel, MD; Universidade de Lisboa<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/chac/?report=reader">VPS13A Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Milunsky, Jeff Mark, MD; Center for Human Genetics, Inc<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/bofs/?report=reader">Branchiooculofacial Syndrome</a>
|
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</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ws1/?report=reader">Waardenburg Syndrome Type I</a>
|
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</li></ul></li><li class="half_rhythm">Minassian, Berge, MD; University of Texas Southwestern<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/lafora/?report=reader">Progressive Myoclonus Epilepsy, Lafora Type</a>
|
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</li></ul></li><li class="half_rhythm">Minetti, Carlo, MD; Gaslini Institute<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hypo-mcc/?report=reader">Hypomyelination and Congenital Cataract</a>
|
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</li></ul></li><li class="half_rhythm">Min, Rogier, PhD; Amsterdam University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cc2-leuk/?report=reader">CLCN2-Related Leukoencephalopathy</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/mlc/?report=reader">Megalencephalic Leukoencephalopathy with Subcortical Cysts</a>
|
|
</li></ul></li><li class="half_rhythm">Min, Sang Hee, MD; Albert Einstein College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/folate-mal/?report=reader">Hereditary Folate Malabsorption</a>
|
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</li></ul></li><li class="half_rhythm">Miraglia del Giudice, Emanuele, MD; Second University of Naples<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/bfns/?report=reader">KCNQ2-Related Disorders</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/kcnq3-dis/?report=reader">KCNQ3-Related Disorders</a>
|
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</li></ul></li><li class="half_rhythm">Mirzaa, Ghayda, MD; Seattle Children's Research Institute<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/miccap-ms/?report=reader">Microcephaly-Capillary Malformation Syndrome</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/mpph/?report=reader">MPPH Syndrome</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/pik3ca-overgrowth/?report=reader">PIK3CA-Related Overgrowth Spectrum</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ppp2r5d-dis/?report=reader">PPP2R5D-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Misko, Albert, MD, PhD; Massachusetts General Hospital / Harvard Medical School<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mc-def/?report=reader">Molybdenum Cofactor Deficiency</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ml4/?report=reader">Mucolipidosis IV</a>
|
|
</li></ul></li><li class="half_rhythm">Mitchell, Amanda, MS; Oregon Health Sciences University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/bietti-cd/?report=reader">Bietti Crystalline Dystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Mitchell, Elyse, MS; Mayo Clinic<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dup17q12/?report=reader">17q12 Recurrent Duplication</a>
|
|
</li></ul></li><li class="half_rhythm">Mitchell, John J, MD; McGill University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pku/?report=reader">Phenylalanine Hydroxylase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Mitchel, Marissa W, MS; Geisinger Health System<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/del16p11_2/?report=reader">16p11.2 Recurrent Deletion</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/mdel17q12/?report=reader">17q12 Recurrent Deletion Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/chd8-ndd-og/?report=reader">CHD8-Related Neurodevelopmental Disorder with Overgrowth</a>
|
|
</li></ul></li><li class="half_rhythm">Mittaz-Crettol, Lauréane, PhD; Lausanne University Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/achon1b/?report=reader">Achondrogenesis Type 1B</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ao2/?report=reader">Atelosteogenesis Type 2</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/diastrophic-d/?report=reader">Diastrophic Dysplasia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/edm/?report=reader">SLC26A2-Related Multiple Epiphyseal Dysplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Miyajima, Hiroaki, MD; Hamamatsu University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/acp/?report=reader">Aceruloplasminemia</a>
|
|
</li></ul></li><li class="half_rhythm">Miyake, Christina Y, MD, MS; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tango2-mea/?report=reader">TANGO2 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Moeschler, John, MD, MS; Geisel School of Medicine/Dartmouth College<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mdel16p12_2/?report=reader">16p12.2 Recurrent Deletion</a>
|
|
</li></ul></li><li class="half_rhythm">Mohassel, Payam, MD; National Institute of Neurological Disorders and Stroke<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bethlem/?report=reader">Collagen VI-Related Dystrophies</a>
|
|
</li></ul></li><li class="half_rhythm">Mohnach, Lauren, MS; University of Michigan<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gonad-dys-46xy/?report=reader">Nonsyndromic Disorders of Testicular Development Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Moi, Paolo, MD; Ospedale Regionale per le Microcitemie<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/a-thal/?report=reader">Alpha-Thalassemia</a>
|
|
</li></ul></li><li class="half_rhythm">Monaco, Anthony P, MD, PhD; Tufts University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/chac/?report=reader">VPS13A Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Moog, Ute, MD; Heidelberg University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cask-dis/?report=reader">CASK Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/eccl/?report=reader">Encephalocraniocutaneous Lipomatosis</a>
|
|
</li></ul></li><li class="half_rhythm">Moore, Anthony T, BM BCh, MA; University of California San Francisco<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/lca-ov/?report=reader">Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/aniridia/?report=reader">PAX6-Related Aniridia</a>
|
|
</li></ul></li><li class="half_rhythm">Moosajee, Mariya, BSc, MBBS, PhD; Moorfields Eye Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/aniridia/?report=reader">PAX6-Related Aniridia</a>
|
|
</li></ul></li><li class="half_rhythm">Morales Corado, J Andres, MBBS; Columbia University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cact-def/?report=reader">Carnitine-Acylcarnitine Translocase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Morales, Ana, MS; The Ohio State University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dcm-ov/?report=reader">Dilated Cardiomyopathy Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/dcm-lmna/?report=reader">LMNA-Related Dilated Cardiomyopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Moran, Rocio T, MD; The MetroHealth System<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/stickler/?report=reader">Stickler Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Morava, Eva, MD, PhD; Mayo Clinic<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/megdel/?report=reader">SERAC1 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Moreau, Lisa, MS; Dana Farber Cancer Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/fa/?report=reader">Fanconi Anemia</a>
|
|
</li></ul></li><li class="half_rhythm">Moreira Marques, Juliana, PhD; Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/prop1/?report=reader">PROP1-Related Combined Pituitary Hormone Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Moreira, Maria-Ceu, MSc, PhD; Professor of Molecular Biology and Genetics<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/aoa2/?report=reader">Ataxia with Oculomotor Apraxia Type 2</a>
|
|
</li></ul></li><li class="half_rhythm">Morel Swols, Dayna, MS; University of Miami Miller School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/kbgs/?report=reader">KBG Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Moreno-De-Luca, Daniel, BSc, MD; University of Alberta<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mdel17q12/?report=reader">17q12 Recurrent Deletion Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Moretti-Ferreira, Danilo, PhD; Sao Paulo State University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ofd1/?report=reader">Oral-Facial-Digital Syndrome Type I</a>
|
|
</li></ul></li><li class="half_rhythm">Morgan, Angela, PhD; University of Melbourne<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/foxp1/?report=reader">FOXP1 Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/foxp2-sl-dis/?report=reader">FOXP2-Related Speech and Language Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/grin2a-dis/?report=reader">GRIN2A-Related Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/mdel17q21_31/?report=reader">Koolen-de Vries Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/setbp1-hd/?report=reader">SETBP1 Haploinsufficiency Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Morimoto, Marie, PhD; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/chediak-higashi/?report=reader">Chediak-Higashi Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/siod/?report=reader">Schimke Immunoosseous Dysplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Morizono, Hiroki, PhD; Children's National Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/otc-def/?report=reader">Ornithine Transcarbamylase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Morleo, Manuela, PhD; Federico II University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/microph-lsd/?report=reader">Microphthalmia with Linear Skin Defects Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Mornet, Etienne, PhD; Centre Hospitalier de Versailles<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hops/?report=reader">Hypophosphatasia</a>
|
|
</li></ul></li><li class="half_rhythm">Morotti, Raffaella, MD; Yale School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pfic/?report=reader">ATP8B1 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Morris, Colleen A, MD; University of Nevada, Reno School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dup7q11_23/?report=reader">7q11.23 Duplication Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/williams/?report=reader">Williams Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Morrison, Leslie, MD; University of New Mexico<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ccm/?report=reader">Familial Cerebral Cavernous Malformation</a>
|
|
</li></ul></li><li class="half_rhythm">Morrow, Eric M, MD, PhD; Brown University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/christianson/?report=reader">Christianson Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Mortier, Geert R, MD, PhD; University Hospitals Leuven<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/edm-ad/?report=reader">Multiple Epiphyseal Dysplasia, Dominant</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/stickler/?report=reader">Stickler Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/rickets-xlh/?report=reader">X-Linked Hypophosphatemia</a>
|
|
</li></ul></li><li class="half_rhythm">Mortimer, Peter, MD; St George's, University of London<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/lds/?report=reader">Lymphedema-Distichiasis Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/milroy/?report=reader">Milroy Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Morton, D Holmes, MD; Clinic for Special Children<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/msud/?report=reader">Maple Syrup Urine Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Moser, Ann B, BA; Kennedy Krieger Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rcdp/?report=reader">Rhizomelic Chondrodysplasia Punctata Type 1</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/x-ald/?report=reader">X-Linked Adrenoleukodystrophy</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/pbd/?report=reader">Zellweger Spectrum Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Moser, Hugo W, MD; Kennedy Krieger Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/x-ald/?report=reader">X-Linked Adrenoleukodystrophy</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/pbd/?report=reader">Zellweger Spectrum Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Moskowitz, Samuel M, MD; Massachusetts General Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cf/?report=reader">Cystic Fibrosis</a>
|
|
</li></ul></li><li class="half_rhythm">Motulsky, Arno G, MD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hemochromatosis/?report=reader">HFE-Related Hemochromatosis</a>
|
|
</li></ul></li><li class="half_rhythm">Moufawad El Achkar, Christelle, MD; Harvard Medical School<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/prrt2-parox/?report=reader">PRRT2-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Mroczek, Magdalena, MD; University College London<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/wars2-def/?report=reader">WARS2 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Mucha, Bettina E, MD; Sainte-Justine Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tbc1d24-dis/?report=reader">TBC1D24-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Muenke, Maximilian, MD; American College of Medical Genetics and Genomics<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hpe-overview/?report=reader">Holoprosencephaly Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/muenke/?report=reader">Muenke Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Mulhern, Maureen, MAT, MS; Columbia University Vagelos College of Physicians and Surgeons<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/csnk2b-ndd/?report=reader">CSNK2B-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Mullegama, Sureni V, PhD; Sam Houston State University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mbd5-dis/?report=reader">MBD5 Haploinsufficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Mulle, Jennifer Gladys, MHSc, PhD; Rutgers University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mdel3q29/?report=reader">3q29 Recurrent Deletion</a>
|
|
</li></ul></li><li class="half_rhythm">Munns, Craig, MBBS, PhD; The Children's Hospital at Westmead<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/lwd/?report=reader">SHOX Deficiency Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Muram-Zborovski, Talia, MD; University of Utah<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/legius/?report=reader">Legius Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Muraresku, Colleen, MS; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/trmu-def/?report=reader">TRMU Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Murdock, David, MD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/xia-gibbs/?report=reader">Xia-Gibbs Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Murphy, Melissa M, PhD; Emory University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mdel3q29/?report=reader">3q29 Recurrent Deletion</a>
|
|
</li></ul></li><li class="half_rhythm">Murray, Jeffrey C, MD; University of Iowa<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/vws/?report=reader">IRF6-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Murray, Michael F, MD; Geisinger Health System<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/lal-def/?report=reader">Lysosomal Acid Lipase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Murray, Mitzi L, MA, MD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/eds4/?report=reader">Vascular Ehlers-Danlos Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Myers, Kasiani, MD; Cincinnati Children’s Hospital Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sds/?report=reader">Shwachman-Diamond Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Myers, Kenneth A, MD, PhD; McGill University Health Centre<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/grin2a-dis/?report=reader">GRIN2A-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Myers, Scott M, MD; Geisinger Health System<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mdel17q12/?report=reader">17q12 Recurrent Deletion Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/chd8-ndd-og/?report=reader">CHD8-Related Neurodevelopmental Disorder with Overgrowth</a>
|
|
</li></ul></li><li class="half_rhythm">Mymin, David, MBBCh; University of Manitoba<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/stsl/?report=reader">Sitosterolemia</a>
|
|
</li></ul></li><li class="half_rhythm">Myrie, Semone B, PhD; University of Manitoba<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/stsl/?report=reader">Sitosterolemia</a>
|
|
</li></ul></li><li class="half_rhythm">Mäkitie, Outi, MD, PhD; University of Helsinki and Helsinki University Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/chh/?report=reader">Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders </a>
|
|
</li></ul></li><li class="half_rhythm">Méneret, Aurélie, MD, PhD; Institut du Cerveau et de la Moelle épinière<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mirror/?report=reader">Congenital Mirror Movements</a>
|
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</li></ul></li><li class="half_rhythm">Möller, Birk; University of Cologne<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/dync1h1-dis/?report=reader">DYNC1H1-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Müller, Juliane S, PhD; University of Cambridge<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cms/?report=reader">Congenital Myasthenic Syndromes Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Münchau, Alexander, MD; University of Lübeck<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/dystonia-ov/?report=reader">Hereditary Dystonia Overview</a>
|
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</li></ul></li><li class="half_rhythm">Mütze, Ulrike, MD; University Hospital Heidelberg<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/isovaleric-a/?report=reader">Classic Isovaleric Acidemia</a>
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</li></ul></li></ul></div><div id="IX-N"><div class="h2"></div><ul class="simple-list"><li class="half_rhythm">Nabais Sá, Maria J, MD, MPH, PhD; Radboud University Medical Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/gabriele-devries/?report=reader">Gabriele-de Vries Syndrome</a>
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</li></ul></li><li class="half_rhythm">Nagamani, Sandesh C Sreenath, MBBS, MD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/args-aciduria/?report=reader">Argininosuccinate Lyase Deficiency</a>
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</li></ul></li><li class="half_rhythm">Nagappa, Madhu, MD; National Institute of Mental Health & Neurosciences<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/huppke-brendel/?report=reader">Huppke-Brendel Syndrome</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/iso-def/?report=reader">Isolated Sulfite Oxidase Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Nagaraj, Chinmayee B, MS; Cincinnati Children's Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/alps/?report=reader">Autoimmune Lymphoproliferative Syndrome</a>
|
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</li><li class="half_rhythm">
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<a href="/books/n/gene/was/?report=reader">WAS-Related Disorders</a>
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</li></ul></li><li class="half_rhythm">Nagy, Amanda, MD; Massachusetts General Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/canavan/?report=reader">Canavan Disease</a>
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</li></ul></li><li class="half_rhythm">Nagy, Sara, MD, MSc; University College London<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/nars1/?report=reader">NARS1-Related Neurologic Disorders</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/wars2-def/?report=reader">WARS2 Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Nahhas, Norah, MD; Children’s National Health System<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/lad-ad/?report=reader">LMNB1-Related Autosomal Dominant Leukodystrophy</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/pmld1/?report=reader">Pelizaeus-Merzbacher-Like Disease 1</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/tubb4a-leuk/?report=reader">TUBB4A-Related Leukodystrophy</a>
|
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</li></ul></li><li class="half_rhythm">Naidu, Sakkubai, MD; Kennedy Krieger Institute<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/alexander/?report=reader">Alexander Disease</a>
|
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</li></ul></li><li class="half_rhythm">Nakamura, Katsuya, MD, PhD; Shinshu University School of Medicine<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/tfap/?report=reader">Hereditary Transthyretin Amyloidosis</a>
|
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</li></ul></li><li class="half_rhythm">Nakano, Taizo A, MD; Children's Hospital Colorado<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/monosomy7-ov/?report=reader">Monosomy 7 Predisposition Syndromes Overview</a>
|
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</li></ul></li><li class="half_rhythm">Nakaya Fletcher, Shelley, BS; BloodWorks Northwest<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/hemo-a/?report=reader">Hemophilia A</a>
|
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</li><li class="half_rhythm">
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<a href="/books/n/gene/hemo-b/?report=reader">Hemophilia B</a>
|
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</li></ul></li><li class="half_rhythm">Namavar, Yasmin, MSc; University of Amsterdam<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pc-hypo-p/?report=reader">TSEN54 Pontocerebellar Hypoplasia</a>
|
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</li></ul></li><li class="half_rhythm">Nance, Martha A, MD; Hennepin County Medical Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/cockayne/?report=reader">Cockayne Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Napierala, Marek, DSc, PhD; University of Texas Southwestern Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/friedreich/?report=reader">Friedreich Ataxia</a>
|
|
</li></ul></li><li class="half_rhythm">Napoli, Eleonora, PhD; University of California, Davis<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/rapid-odp/?report=reader">ATP1A3-Related Disorder</a>
|
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</li></ul></li><li class="half_rhythm">Napolitano, Carlo, MD, PhD; ICS Maugeri<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/timothy/?report=reader">CACNA1C-Related Disorders</a>
|
|
</li><li class="half_rhythm">
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<a href="/books/n/gene/cvt/?report=reader">Catecholaminergic Polymorphic Ventricular Tachycardia</a>
|
|
</li></ul></li><li class="half_rhythm">Narayanan, Dhanya Lakshmi, MD; Kasturba Medical College, Manipal<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ebf3-ndd/?report=reader">EBF3 Neurodevelopmental Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/isca1-mmds/?report=reader">ISCA1-Related Multiple Mitochondrial Dysfunctions Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/lpin2-majeed/?report=reader">LPIN2-Related Majeed Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Narayan, Srinivas B, PhD; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cpt1a/?report=reader">Carnitine Palmitoyltransferase 1A Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Narumi, Satoshi, MD, PhD; National Research Institute for Child Health and Development<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mirage/?report=reader">MIRAGE Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Nash, David R, MD; University of Pittsburgh<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/zap70-scid/?report=reader">ZAP70-Related Combined Immunodeficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Nasir, Ramzi, MD, MPH; Boston Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/del16p11_2/?report=reader">16p11.2 Recurrent Deletion</a>
|
|
</li></ul></li><li class="half_rhythm">Nattakom, Mary, BA; Columbia University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ppp2r5d-dis/?report=reader">PPP2R5D-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Navas, Placido, PhD; Universidad Pablo de Olavide<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/coq10-def/?report=reader">Primary Coenzyme Q10 Deficiency Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Naylor, Rochelle, MD; University of Chicago<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mody-ov/?report=reader">Maturity-Onset Diabetes of the Young Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Need, Anna, PhD; Imperial College London<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ngly1-cddg/?report=reader">NGLY1-Related Congenital Disorder of Deglycosylation</a>
|
|
</li></ul></li><li class="half_rhythm">Neilan, Edward G, MD, PhD; Harvard Medical School<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cockayne/?report=reader">Cockayne Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Neiman, Aaron, PhD; Stony Brook University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/chac/?report=reader">VPS13A Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Neira-Fresneda, Juanita, MD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/potocki-lupski/?report=reader">Potocki-Lupski Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Nelson, Adam, MBBS; Sydney Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sds/?report=reader">Shwachman-Diamond Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Nelson, David L, PhD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/i-p/?report=reader">Incontinentia Pigmenti</a>
|
|
</li></ul></li><li class="half_rhythm">Nemes, Karolina, MD, PhD; University Medical Center Augsburg<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rtps/?report=reader">Rhabdoid Tumor Predisposition Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Nemeth, Andrea H, DPhil; Churchill Hospital and Institute of Molecular Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dystonia-ov/?report=reader">Hereditary Dystonia Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Nesterova, Galina, MD; NIH<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ctns/?report=reader">Cystinosis</a>
|
|
</li></ul></li><li class="half_rhythm">Netchine, Irene, MD, PhD; Hôpital Armand Trousseau<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rss/?report=reader">Silver-Russell Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Neufeld, Ellis J, MD, PhD<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/trma/?report=reader">Thiamine-Responsive Megaloblastic Anemia Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Neuhaus, Emily, PhD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/chd8-ndd-og/?report=reader">CHD8-Related Neurodevelopmental Disorder with Overgrowth</a>
|
|
</li></ul></li><li class="half_rhythm">Neuser, Sonja, MD; University of Leipzig Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tecpr2-hsan-id/?report=reader">TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability </a>
|
|
</li></ul></li><li class="half_rhythm">Newman, William G, MA, PhD; University of Manchester and Manchester University NHS Foundation Trust<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/perrault/?report=reader">Perrault Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/urofacial/?report=reader">Urofacial Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">New, Maria I, PhD; Mount Sinai School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cah/?report=reader">21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Nguyen, Matthew Huu, MD; University of New South Wales<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/clcn4-ndd/?report=reader">CLCN4-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Nichols, Colin G, PhD; Washington University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cantu/?report=reader">Cantú syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Nichols, Kim E, MD; St Jude Children's Research Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hlh/?report=reader">Familial Hemophagocytic Lymphohistiocytosis</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/li-fraumeni/?report=reader">Li-Fraumeni Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/x-lpd/?report=reader">X-Linked Lymphoproliferative Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Nicholson, Garth A, MBBS, PhD; University of Sydney<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hsn1/?report=reader">SPTLC1-Related Hereditary Sensory Neuropathy</a>
|
|
</li></ul></li><li class="half_rhythm">Nicklas, Janice A, PhD; University of Vermont<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/lns/?report=reader">HPRT1 Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Nicole, Sophie, PhD; Groupe Hospitalier Pitié-Salpêtrière<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hpp/?report=reader">Hypokalemic Periodic Paralysis</a>
|
|
</li></ul></li><li class="half_rhythm">Nicoli, Elena-Raluca, PharmR, PhD; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/chediak-higashi/?report=reader">Chediak-Higashi Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Nielsen, Jørgen E, MD, PhD; Rigshospitalet<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ftd-chmp2b/?report=reader">CHMP2B Frontotemporal Dementia</a>
|
|
</li></ul></li><li class="half_rhythm">Nielsen, Maartje, MD, PhD; Leiden University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/maps/?report=reader">MUTYH Polyposis</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/nthl1-ts/?report=reader">NTHL1 Tumor Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Nielsen, Troels T, MSc, PhD; Rigshospitalet<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ftd-chmp2b/?report=reader">CHMP2B Frontotemporal Dementia</a>
|
|
</li></ul></li><li class="half_rhythm">Niewisch, Marena R, MD; National Cancer Institute, NIH<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dkc/?report=reader">Dyskeratosis Congenita and Related Telomere Biology Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Niinikoski, Harri, MD, PhD; University of Turku<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/lpi/?report=reader">Lysinuric Protein Intolerance</a>
|
|
</li></ul></li><li class="half_rhythm">Nikkel, Sarah M, MD; BC Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/fhs/?report=reader">Floating-Harbor Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/hypochondroplasia/?report=reader">Hypochondroplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Nillesen, Willy M, BSc; Radboud University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/kleefstra/?report=reader">Kleefstra Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Nilssen, Øivind, PhD; University of Tromsø<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/a-mannosidosis/?report=reader">Alpha-Mannosidosis</a>
|
|
</li></ul></li><li class="half_rhythm">Nimkarn, Saroj, MD; Bumrungrad Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cah/?report=reader">21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Nisbet, Alex F, BS; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sgbs/?report=reader">Simpson-Golabi-Behmel Syndrome Type 1</a>
|
|
</li></ul></li><li class="half_rhythm">Nishi, Mirian Yumie, PhD; Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/prop1/?report=reader">PROP1-Related Combined Pituitary Hormone Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Nishino, Ichizo, MD, PhD; National Institute of Neuroscience<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/chkb-md/?report=reader">CHKB-Related Muscular Dystrophy</a>
|
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</li></ul></li><li class="half_rhythm">Nishio, Shin-ya, PhD; Shinshu University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mt-deafness/?report=reader">Nonsyndromic Hearing Loss and Deafness, Mitochondrial</a>
|
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</li></ul></li><li class="half_rhythm">Nobile, Carlo; CNR Institute of Neuroscience<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/peaf/?report=reader">Autosomal Dominant Epilepsy with Auditory Features</a>
|
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</li></ul></li><li class="half_rhythm">Noonan, Kristin M, MD; The Medical College of Wisconsin<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/donnai/?report=reader">Donnai-Barrow Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Noon, Sarah Elizabeth, MS; The Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cdls/?report=reader">Cornelia de Lange Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Noreau, Anne, MSc; University of Montreal<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/syne1ca-ar/?report=reader">SYNE1 Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Noris, Marina, PhD; Istituto di Ricerche Farmacologiche Mario Negri–IRCCS<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/husa/?report=reader">Genetic Atypical Hemolytic-Uremic Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Northrup, Hope, MD; McGovern Medical School<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mps3/?report=reader">Mucopolysaccharidosis Type III</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/tuberous-sclerosis/?report=reader">Tuberous Sclerosis Complex</a>
|
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</li></ul></li><li class="half_rhythm">Nowaczyk, Malgorzata JM, MD; McMaster University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/fhs/?report=reader">Floating-Harbor Syndrome</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/slo/?report=reader">Smith-Lemli-Opitz Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Nozaki, Hiroaki, MD, PhD; Niigata University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/carasil/?report=reader">HTRA1 Disorder</a>
|
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</li></ul></li><li class="half_rhythm">Nozu, Kandai, MD, PhD; Kobe University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/alport/?report=reader">Alport Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Nunes Guimaraes, Izolda, PhD; Sao Paulo State University<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/ofd1/?report=reader">Oral-Facial-Digital Syndrome Type I</a>
|
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</li></ul></li><li class="half_rhythm">Nunes, Mark E, MD; Valley Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hops/?report=reader">Hypophosphatasia</a>
|
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</li></ul></li><li class="half_rhythm">Nunes, Virginia, PhD; University of Barcelona<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/lpi/?report=reader">Lysinuric Protein Intolerance</a>
|
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</li></ul></li><li class="half_rhythm">Nussbaum, Robert L, MD; Invitae Corporation<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/lowe/?report=reader">Lowe Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Nyhan, William L, MD, PhD; University of California San Diego<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/lns/?report=reader">HPRT1 Disorders</a>
|
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</li></ul></li></ul></div><div id="IX-O"><div class="h2"></div><ul class="simple-list"><li class="half_rhythm">O'Brien, Kevin J, RN; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/hps/?report=reader">Hermansky-Pudlak Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">O'Donnell-Luria, Anne, MD, PhD; Boston Children's Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/kmt2e-ndd/?report=reader">KMT2E-Related Neurodevelopmental Disorder</a>
|
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</li></ul></li><li class="half_rhythm">O'Ferrall, Erin, MD, MSc; Montreal Neurological Institute<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/ibm/?report=reader">GNE Myopathy</a>
|
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</li></ul></li><li class="half_rhythm">O'Neill, J Patrick, PhD; University of Vermont<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/lns/?report=reader">HPRT1 Disorders</a>
|
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</li></ul></li><li class="half_rhythm">O'Toole, Edel, MD, PhD; University of London<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pc/?report=reader">Pachyonychia Congenita</a>
|
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</li></ul></li><li class="half_rhythm">Ocansey, Sharon, BSc, MBBS, MSc; St George's University Hospital NHS Foundation Trust<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/weaver/?report=reader">EZH2-Related Overgrowth</a>
|
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</li></ul></li><li class="half_rhythm">Oddoux, Carole, PhD; New York University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hsan4/?report=reader">NTRK1 Congenital Insensitivity to Pain with Anhidrosis</a>
|
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</li></ul></li><li class="half_rhythm">Odell, Amanda M, MS; University of Iowa<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/deafness-overview/?report=reader">Genetic Hearing Loss Overview</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/pendred/?report=reader">SLC26A4-Related Sensorineural Hearing Loss</a>
|
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</li></ul></li><li class="half_rhythm">Oetgen, Matthew, MD; Children's National Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mps4a/?report=reader">Mucopolysaccharidosis Type IVA </a>
|
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</li></ul></li><li class="half_rhythm">Ogata, Tsutomu, MD, PhD; Hamamatsu University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/kagami-ogata/?report=reader">Kagami-Ogata Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Oglesbee, Devin, PhD; Mayo Clinic<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/scad/?report=reader">Short-Chain Acyl-CoA Dehydrogenase Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Oishi, Kimihiko, MD; Jikei University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/trma/?report=reader">Thiamine-Responsive Megaloblastic Anemia Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Okialda, Krystle A, BS; University of Washington<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/bietti-cd/?report=reader">Bietti Crystalline Dystrophy</a>
|
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</li></ul></li><li class="half_rhythm">Okur, Volkan, MD; New York Genome Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/okur-chung/?report=reader">Okur-Chung Neurodevelopmental Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Oliveira, Carla, PhD; University of Porto<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hgc/?report=reader">Diffuse Gastric and Lobular Breast Cancer Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Oliveira, Joao, MD, PhD; Federal University of Pernambuco<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/bgc/?report=reader">Primary Familial Brain Calcification</a>
|
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</li></ul></li><li class="half_rhythm">Oliveira, Jorge, MSc, PhD; Universidade do Porto<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mdef-cmd/?report=reader">LAMA2 Muscular Dystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Oliver Petit, Isabelle, MD; Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/thctd/?report=reader">Allan-Herndon-Dudley Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Olivucci, Giulia, MD; IRCCS Azienda Ospedaliero-Universitaria di Bologna<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tbs/?report=reader">SALL1-Related Townes-Brocks Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Olney, Ann Haskins, MD; University of Nebraska Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/slc25a24-fps/?report=reader">SLC25A24 Fontaine Progeroid Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Olson, Heather, MD, MS; Boston Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cdkl5-def/?report=reader">CDKL5 Deficiency Disorder</a>
|
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</li></ul></li><li class="half_rhythm">Olson, Timothy S, MD, PhD; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mirage/?report=reader">MIRAGE Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/monosomy7-ov/?report=reader">Monosomy 7 Predisposition Syndromes Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Ombrello, Amanda, MD; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/traps/?report=reader">TNF Receptor-Associated Periodic Fever Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Ong, Thida, MD; University of Washington School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cf/?report=reader">Cystic Fibrosis</a>
|
|
</li></ul></li><li class="half_rhythm">Onodera, Osamu, MD, PhD; Niigata University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/carasil/?report=reader">HTRA1 Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca17/?report=reader">Spinocerebellar Ataxia Type 17</a>
|
|
</li></ul></li><li class="half_rhythm">Opal, Puneet, MD, PhD; Northwestern University Feinberg School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/gan/?report=reader">GAN-Related Neurodegeneration</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca1/?report=reader">Spinocerebellar Ataxia Type 1</a>
|
|
</li></ul></li><li class="half_rhythm">Ordonez, Jessica L, MS; Miami Cancer Institute - Baptist Health South Florida<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/df-lamm/?report=reader">Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/dfn-myop/?report=reader">Deafness and Myopia Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Origa, Raffaella, MD; Ospedale Pediatrico Microcitemico Antonio Cao<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/a-thal/?report=reader">Alpha-Thalassemia</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/b-thal/?report=reader">Beta-Thalassemia</a>
|
|
</li></ul></li><li class="half_rhythm">Orrell, Richard W, BSc, MD; University College London<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/iahsp/?report=reader">ALS2-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Orsini, Joseph J, PhD; Wadsworth Center - New York State Department of Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/krabbe/?report=reader">Krabbe Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Orten, Dana J, PhD; Boys Town National Research Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/usher2/?report=reader">Usher Syndrome Type II</a>
|
|
</li></ul></li><li class="half_rhythm">Orthmann-Murphy, Jennifer, MD, PhD; Johns Hopkins University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pmld1/?report=reader">Pelizaeus-Merzbacher-Like Disease 1</a>
|
|
</li></ul></li><li class="half_rhythm">Ortigoza-Escobar, Juan Darío, MD, PhD; Hospital Sant Joan de Déu Barcelona<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bgd-biotin/?report=reader">Biotin-Thiamine-Responsive Basal Ganglia Disease </a>
|
|
</li></ul></li><li class="half_rhythm">Ortiz-Gonzalez, Xilma, MD, PhD; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sptbn4/?report=reader">SPTBN4 Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Osborne, Jenae, MS; University of Michigan Medical School<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pot1-tpd/?report=reader">POT1 Tumor Predisposition</a>
|
|
</li></ul></li><li class="half_rhythm">Osborne, Lucy R, PhD; University of Toronto<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dup7q11_23/?report=reader">7q11.23 Duplication Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Oshima, Junko, MD, PhD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/werner/?report=reader">Werner Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Ostergaard, Elsebet, MD, PhD; National University Hospital Rigshospitalet<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sucla2-def/?report=reader">SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria</a>
|
|
</li></ul></li><li class="half_rhythm">Ostergaard, Pia; St George's, University of London<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/milroy/?report=reader">Milroy Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Ostrer, Harry, MD; New York University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gonad-dys-46xy/?report=reader">Nonsyndromic Disorders of Testicular Development Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Ostrowski, Philip J, MD; St George's University Hospitals NHS Foundation Trust<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tbrs/?report=reader">Tatton-Brown-Rahman Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Oswald, Gretchen L, MS; Johns Hopkins Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cdp1-xlr/?report=reader">Chondrodysplasia Punctata 1, X-Linked</a>
|
|
</li></ul></li><li class="half_rhythm">Othman, Amna A, MBBCh; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/og-dysp/?report=reader">Osteoglophonic Dysplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Ottman, Ruth, PhD; Columbia University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/peaf/?report=reader">Autosomal Dominant Epilepsy with Auditory Features</a>
|
|
</li></ul></li><li class="half_rhythm">Ozelius, Laurie, PhD; Massachusetts General Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rapid-odp/?report=reader">ATP1A3-Related Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/dystonia/?report=reader">DYT1 Early-Onset Isolated Dystonia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/myo-dystonia/?report=reader">SGCE Myoclonus-Dystonia</a>
|
|
</li></ul></li></ul></div><div id="IX-P"><div class="h2"></div><ul class="simple-list"><li class="half_rhythm">Paciorkowski, Alex R, MD; University of Rochester Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pura-dis/?report=reader">PURA-Related Neurodevelopmental Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Padiath, Quasar, MBBS, PhD; University of Pittsburgh<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/lad-ad/?report=reader">LMNB1-Related Autosomal Dominant Leukodystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Pagon, Roberta A, MD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rp-overview/?report=reader">Nonsyndromic Retinitis Pigmentosa Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca7/?report=reader">Spinocerebellar Ataxia Type 7</a>
|
|
</li></ul></li><li class="half_rhythm">Paisey, Richard B, MD; Torbay Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alstrom/?report=reader">Alstrom Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Pais, Lynn, MS, MSc; Boston Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/kmt2e-ndd/?report=reader">KMT2E-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Pallais, J Carl, MD, MPH; Massachusetts General Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/kms/?report=reader">Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Palmer, Elizabeth, MBBS, PhD; University of New South Wales<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/atn1-ndd/?report=reader">ATN1-Related Neurodevelopmental Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/clcn4-ndd/?report=reader">CLCN4-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Palmio, Johanna, MD, PhD; University of Tampere<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ano5-md/?report=reader">ANO5 Muscle Disease</a>
|
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</li></ul></li><li class="half_rhythm">Paloneva, Juha, MD, PhD; Central Finland Hospital Nova<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/plosl/?report=reader">Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy</a>
|
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</li></ul></li><li class="half_rhythm">Palsson, Runolfur, MD; The National University Hospital of Iceland<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/aprt-def/?report=reader">Adenine Phosphoribosyltransferase Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Pal, Tuya, MD; Vanderbilt-Ingram Cancer Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/brca1/?report=reader">BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer</a>
|
|
</li></ul></li><li class="half_rhythm">Pandya, Arti, MBA, MD; Virginia Commonwealth University Health System<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mt-deafness/?report=reader">Nonsyndromic Hearing Loss and Deafness, Mitochondrial</a>
|
|
</li></ul></li><li class="half_rhythm">Pankratz, Nathan D, PhD; Indiana University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/parkinson-overview/?report=reader">Parkinson Disease Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Papanikalaou, George, MD, PhD; National and Kapodistrian University of Athens<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/jh/?report=reader">Juvenile Hemochromatosis</a>
|
|
</li></ul></li><li class="half_rhythm">Papapoulos, Socrates, MD, PhD; Leiden University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sost/?report=reader">SOST-Related Sclerosing Bone Dysplasias</a>
|
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</li></ul></li><li class="half_rhythm">Pappas, John G, MD, MS; NYU Grossman School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/setd2-ndd/?report=reader">SETD2 Neurodevelopmental Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Paquis-Flucklinger, Véronique, MD, PhD; Nice Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/chchd10-dis/?report=reader">CHCHD10-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Parboosingh, Jillian S, PhD; University of Calgary<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/vldlr-ch/?report=reader">VLDLR Cerebellar Hypoplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Parente Freixo, João, MD; Universidade do Porto<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mdef-cmd/?report=reader">LAMA2 Muscular Dystrophy</a>
|
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</li></ul></li><li class="half_rhythm">Pariani, Mitchel, MS; Stanford Center for Inherited Cardiovascular Disease<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hyperchol/?report=reader">Familial Hypercholesterolemia</a>
|
|
</li></ul></li><li class="half_rhythm">Parisi, Melissa A, MD, PhD; National Institute of Child Health & Human Development<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/joubert/?report=reader">Joubert Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Parker, Alasdair Patrick John, MA, MBBS, MD; Addenbrooke’s Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cip-overview/?report=reader">Congenital Insensitivity to Pain Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Parker, Charles J, MD; University of Utah School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hemochromatosis/?report=reader">HFE-Related Hemochromatosis</a>
|
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</li></ul></li><li class="half_rhythm">Parkin, Kimberly; Massachusetts General Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pitt-hopkins/?report=reader">Pitt-Hopkins Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Park, Julien H, Dr. med.; Universitätsklinikum Münster<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/slc39a8-cdg/?report=reader">SLC39A8-CDG</a>
|
|
</li></ul></li><li class="half_rhythm">Park, Julie R, MD; Seattle Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/alk-nbs/?report=reader">ALK-Related Neuroblastic Tumor Susceptibility</a>
|
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</li></ul></li><li class="half_rhythm">Parks, Sharie B, PhD; Oregon Health and Science University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/dcm-ov/?report=reader">Dilated Cardiomyopathy Overview</a>
|
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</li></ul></li><li class="half_rhythm">Parodi, Livia, PhD; Sorbonne Université – Pitié-Salpêtrière University Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/spg4/?report=reader">Spastic Paraplegia 4</a>
|
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</li></ul></li><li class="half_rhythm">Pascotto, Antonio, MD; Second University of Naples<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/bfns/?report=reader">KCNQ2-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Pascual, Juan M, MD, PhD; University of Texas Southwestern Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/glut1/?report=reader">Glucose Transporter Type 1 Deficiency Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Pasini, Elena, MD; Bellaria Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/peaf/?report=reader">Autosomal Dominant Epilepsy with Auditory Features</a>
|
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</li></ul></li><li class="half_rhythm">Passarge, Eberhard, MD; University of Essen<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/retinoblastoma/?report=reader">Retinoblastoma</a>
|
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</li></ul></li><li class="half_rhythm">Passemard, Sandrine, MD, PhD; APHP-Robert Debré University Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/aspm-pm/?report=reader">ASPM Primary Microcephaly</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/wdr62-pm/?report=reader">WDR62 Primary Microcephaly</a>
|
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</li></ul></li><li class="half_rhythm">Pastores, Gregory M, MD; University College<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/gaucher/?report=reader">Gaucher Disease</a>
|
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</li></ul></li><li class="half_rhythm">Pastori, Daniele, MD, PhD; Sapienza University of Rome<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/factor-v-leiden/?report=reader">Factor V Leiden Thrombophilia</a>
|
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</li></ul></li><li class="half_rhythm">Patel, Heema, PhD; St George's, University of London<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/spg20/?report=reader">Troyer Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Patel, Millan S, MD, MSc; University of British Columbia<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cmtc/?report=reader">Isolated and Classic Cutis Marmorata Telangiectatica Congenita</a>
|
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</li></ul></li><li class="half_rhythm">Patel, Neepa Jayant, MD; Henry Ford Health System<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/nkx2-1-dis/?report=reader">NKX2-1-Related Disorders</a>
|
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</li></ul></li><li class="half_rhythm">Patel, Pragna I, PhD; Nagoya University Graduate School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/friedreich/?report=reader">Friedreich Ataxia</a>
|
|
</li></ul></li><li class="half_rhythm">Patel, Swati G, MD, MS; University of Colorado Anschutz Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/fap/?report=reader">APC-Associated Polyposis Conditions</a>
|
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</li></ul></li><li class="half_rhythm">Patil, Siddaramappa J, MD; Mazumdar Shaw Medical Centre / Narayana Hrudayalaya Hospitals<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/hoxa1-dis/?report=reader">HOXA1-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Patterson, Marc, MD; Mayo Clinic<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/npc/?report=reader">Niemann-Pick Disease Type C</a>
|
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</li></ul></li><li class="half_rhythm">Patwari, Pallavi P, MD; Children's Memorial Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/ondine/?report=reader">Congenital Central Hypoventilation Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Pauli, Richard M, MD, PhD; University of Wisconsin<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/achondroplasia/?report=reader">Achondroplasia</a>
|
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</li></ul></li><li class="half_rhythm">Paulson, Henry, MD, PhD; University of Michigan Medical School<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/sca3/?report=reader">Spinocerebellar Ataxia Type 3</a>
|
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</li></ul></li><li class="half_rhythm">Pearl, Phillip L, MD; George Washington University School of Medicine<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/ssadh/?report=reader">Succinic Semialdehyde Dehydrogenase Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Pearson, Deborah A, PhD; McGovern Medical School<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/tuberous-sclerosis/?report=reader">Tuberous Sclerosis Complex</a>
|
|
</li></ul></li><li class="half_rhythm">Pearson, Toni S, MBBS, MD; Nationwide Children's Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/aadc-def/?report=reader">Aromatic L-Amino Acid Decarboxylase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Pecci, Alessandro, MD, PhD; IRCCS Policlinico San Matteo Foundation<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/myh9/?report=reader">MYH9-Related Disease</a>
|
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</li></ul></li><li class="half_rhythm">Peikert, Kevin, MD; University Medical Center Rostock<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mcleod/?report=reader">McLeod Neuroacanthocytosis Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/chac/?report=reader">VPS13A Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Pellerin, David, MD, MSc; University College London<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/fgf14-ataxia/?report=reader">GAA-FGF14-Related Ataxia</a>
|
|
</li></ul></li><li class="half_rhythm">Pelzer, Nadine, MD, PhD; Leiden University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rvcl/?report=reader">Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations</a>
|
|
</li></ul></li><li class="half_rhythm">Pena, Izabella, PhD; Massachusetts Institute of Technology<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/plpbp-def/?report=reader">PLPBP Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Pena, Loren DM, MD, PhD; Cincinnati Children's Hospital and Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/irf2bpl-dis/?report=reader">IRF2BPL-Related Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/shashi-pena/?report=reader">Shashi-Pena Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Pencheva, Bojana, MMSc; Emory University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/etv6-tpl/?report=reader">ETV6 Thrombocytopenia and Predisposition to Leukemia</a>
|
|
</li></ul></li><li class="half_rhythm">Pendyal, Surekha, MEd, MSc, RD; Duke University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gsd1/?report=reader">Glycogen Storage Disease Type I</a>
|
|
</li></ul></li><li class="half_rhythm">Pennesi, Mark E, MD, PhD; Casey Eye Institute - Oregon Health & Science University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/lca-ov/?report=reader">Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/rpe65-lca/?report=reader">RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Penttilä, Sini, PhD; Fimlab Laboratories<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ano5-md/?report=reader">ANO5 Muscle Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Pepin, Melanie G, MS; University of Washington Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/oi/?report=reader">COL1A1/2 Osteogenesis Imperfecta</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/eds4/?report=reader">Vascular Ehlers-Danlos Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Percy, Melanie, PhD; Belfast City Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pfcp/?report=reader">Primary Familial and Congenital Erythrocytosis</a>
|
|
</li></ul></li><li class="half_rhythm">Perez Botero, Juliana, MD; BloodCenter of Wisconsin<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ankrd26/?report=reader">ANKRD26-Related Thrombocytopenia</a>
|
|
</li></ul></li><li class="half_rhythm">Perlman, Susan, MD; David Geffen School of Medicine at UCLA<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ataxia-telangiectas/?report=reader">Ataxia-Telangiectasia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ataxias/?report=reader">Hereditary Ataxia Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Peron, Angela, MD; San Paolo Hospital, Università degli Studi di Milano<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bcl11a-id/?report=reader">BCL11A-Related Intellectual Disability</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/snyder-robinson/?report=reader">Snyder-Robinson Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Perrier, Nancy D, MD; University of Texas MD Anderson Cancer Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hrpt2/?report=reader">CDC73-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Perrino, Melissa R, MD; St Jude Children's Research Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alk-nbs/?report=reader">ALK-Related Neuroblastic Tumor Susceptibility</a>
|
|
</li></ul></li><li class="half_rhythm">Perry, Monique, MD; Clinical Center - National Institutes of Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alkap/?report=reader">Alkaptonuria</a>
|
|
</li></ul></li><li class="half_rhythm">Pescosolido, Matthew F, BA; Brown University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/christianson/?report=reader">Christianson Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Pessia, Mauro, PhD; Istituto Euro-Mediterraneo di Scienza e Tecnologia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ea1/?report=reader">Episodic Ataxia Type 1</a>
|
|
</li></ul></li><li class="half_rhythm">Petit, Florence, MD, PhD; CHU de Lille<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tar/?report=reader">Thrombocytopenia Absent Radius Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Petrovic, Aleksandra, MD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/x-scid/?report=reader">X-Linked Severe Combined Immunodeficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Petrucelli, Nancie, MS; Karmanos Cancer Institute, Cancer Genetic Counseling Service<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/brca1/?report=reader">BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer</a>
|
|
</li></ul></li><li class="half_rhythm">Pfautsch, Miranda; Dr Kiran C Patel College of Medicine - Tampa Bay Campus<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sma-xli/?report=reader">Spinal Muscular Atrophy, X-Linked Infantile</a>
|
|
</li></ul></li><li class="half_rhythm">Pfeffer, Gerald, MD, PhD; University of Calgary<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hmerf/?report=reader">Hereditary Myopathy with Early Respiratory Failure</a>
|
|
</li></ul></li><li class="half_rhythm">Pfendner, Ellen G, PhD; GeneDx, Inc<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ebd/?report=reader">Dystrophic Epidermolysis Bullosa</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ebs/?report=reader">Epidermolysis Bullosa Simplex</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/eb-pa/?report=reader">Epidermolysis Bullosa with Pyloric Atresia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ebj/?report=reader">Junctional Epidermolysis Bullosa</a>
|
|
</li></ul></li><li class="half_rhythm">Phelan, Katy, PhD; Florida Cancer Specialists & Research Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gr_22q13_3/?report=reader">Phelan-McDermid Syndrome-SHANK3 Related</a>
|
|
</li></ul></li><li class="half_rhythm">Phillips, Ian R, PhD; Queen Mary, University of London<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/trimethylaminuria/?report=reader">Primary Trimethylaminuria</a>
|
|
</li></ul></li><li class="half_rhythm">Phillips, John, PhD; University of Utah School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/porphyria-ct/?report=reader">Familial Porphyria Cutanea Tarda</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/hep/?report=reader">Hepatoerythropoietic Porphyria</a>
|
|
</li></ul></li><li class="half_rhythm">Phillips, John A, MD; Vanderbilt University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pph/?report=reader">Heritable Pulmonary Arterial Hypertension Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/prop1/?report=reader">PROP1-Related Combined Pituitary Hormone Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Phillips, Lindsay, PhD; University of Calgary<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/au-kline/?report=reader">Au-Kline Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Phornphutkul, Chanika, MD; Brown University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alkap/?report=reader">Alkaptonuria</a>
|
|
</li></ul></li><li class="half_rhythm">Phowthongkum, Prasit, MD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/samd9l-ap/?report=reader">SAMD9L Ataxia-Pancytopenia Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Piard, Juliette, MD; CHRU de Besançon – Hôpital Saint-Jacques<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bgs/?report=reader">Baller-Gerold Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Picker, Jonathan D, MBChB, PhD; Boston Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/homocystinuria/?report=reader">Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Pieke-Dahl, Sandra, PhD; Ohio State University, Department of Psychology<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/usher1/?report=reader">Usher Syndrome Type I</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/usher2/?report=reader">Usher Syndrome Type II</a>
|
|
</li></ul></li><li class="half_rhythm">Pierre, Germaine, MBBS, MSc; Bristol Royal Hospital for Children<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/barth/?report=reader">Barth Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Pierson, Christopher R, MD, PhD; Nationwide Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mtm/?report=reader">X-Linked Myotubular Myopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Pignatelli, Pasquale, MD, PhD; Sapienza University of Rome<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/factor-v-leiden/?report=reader">Factor V Leiden Thrombophilia</a>
|
|
</li></ul></li><li class="half_rhythm">Pilarski, Robert, MS, MSW; Ambry Genetics<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bap1-tpds/?report=reader">BAP1 Tumor Predisposition Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/phts/?report=reader">PTEN Hamartoma Tumor Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Pilz, Daniela T, MD, PhD; University Hospital of Wales<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/baraitser-winter/?report=reader">Baraitser-Winter Cerebrofrontofacial Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Pinney, Sara, MD; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dmn/?report=reader">Permanent Neonatal Diabetes Mellitus</a>
|
|
</li></ul></li><li class="half_rhythm">Pinsky, Leonard, MD; McGill University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/androgen/?report=reader">Androgen Insensitivity Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Piperno, Alberto, MD; University of Milano-Bicocca<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/jh/?report=reader">Juvenile Hemochromatosis</a>
|
|
</li></ul></li><li class="half_rhythm">Pithukpakorn, Manop, MD; Mahidol University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bhd/?report=reader">Birt-Hogg-Dube Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/hlrcc/?report=reader">FH Tumor Predisposition Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Pitteloud, Nelly, MD; Massachusetts General Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/kms/?report=reader">Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Pitt, James, PhD; Murdoch Children's Research Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ss-def/?report=reader">Squalene Synthase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Pizzo, Lucilla, MS; Pennsylvania State University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mdel16p12_2/?report=reader">16p12.2 Recurrent Deletion</a>
|
|
</li></ul></li><li class="half_rhythm">Plaisier, Emmanuelle, MD, PhD; Hôpital Tenon / Université Pierre et Marie Curie<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/col4a1-dis/?report=reader">COL4A1-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Platzer, Konrad, MD; University of Leipzig Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/grin1-ndd/?report=reader">GRIN1-Related Neurodevelopmental Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/grin2b/?report=reader">GRIN2B-Related Neurodevelopmental Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/grin2d-dee/?report=reader">GRIN2D-Related Developmental and Epileptic Encephalopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Plecko, Barbara, MD; Medical University of Graz<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pnpo-def/?report=reader">PNPO Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Plitt, Gilman, MD; Cleveland Clinic<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/men2/?report=reader">Multiple Endocrine Neoplasia Type 2</a>
|
|
</li></ul></li><li class="half_rhythm">Plon, Sharon E, MD, PhD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rts/?report=reader">Rothmund-Thomson Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Plotkin, Scott, MD, PhD; Harvard Medical School and Massachusetts General Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/schwann/?report=reader">LZTR1- and SMARCB1-Related Schwannomatosis</a>
|
|
</li></ul></li><li class="half_rhythm">Pober, Barbara R, MD; MassGeneral Hospital for Children<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cdh-ov/?report=reader">Congenital Diaphragmatic Hernia Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/donnai/?report=reader">Donnai-Barrow Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Poke, Gemma, BSc, MBBS; University of Otago<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gnb5-ndd/?report=reader">GNB5-Related Neurodevelopmental Disorder </a>
|
|
</li></ul></li><li class="half_rhythm">Porter, Christopher C, MD; Emory University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/etv6-tpl/?report=reader">ETV6 Thrombocytopenia and Predisposition to Leukemia</a>
|
|
</li></ul></li><li class="half_rhythm">Porter, Julie M, MD, PhD; Cincinnati Children's Hospital and Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/shashi-pena/?report=reader">Shashi-Pena Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Portigal, Cheryl L, MSc; University of British Columbia<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mps1/?report=reader">Mucopolysaccharidosis Type I</a>
|
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</li></ul></li><li class="half_rhythm">Potocki, Lorraine, MD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cmt2d/?report=reader">GARS-Associated Axonal Neuropathy</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/potocki-lupski/?report=reader">Potocki-Lupski Syndrome</a>
|
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</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/sms/?report=reader">Smith-Magenis Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Powell, Lawrie, MD, PhD; University of Queensland<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hemochromatosis/?report=reader">HFE-Related Hemochromatosis</a>
|
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</li></ul></li><li class="half_rhythm">Prabhu, Sandeep, MD; University of Oklahoma<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mbtps1-semd/?report=reader">MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes</a>
|
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</li></ul></li><li class="half_rhythm">Prada, Carlos, MD; Ann & Robert H Lurie Children's Hospital of Chicago<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/dlg4-synap/?report=reader">DLG4-Related Synaptopathy</a>
|
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</li></ul></li><li class="half_rhythm">Prades, Silvia, PhD; Ataxia UK<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/drpla/?report=reader">DRPLA</a>
|
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</li></ul></li><li class="half_rhythm">Prasad, Rathi, MBBS, PhD; Queen Mary University of London<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/sgpl1/?report=reader">Sphingosine Phosphate Lyase Insufficiency Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Prasad, Sai D, BS; University of Iowa Hospitals and Clinics<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/bor/?report=reader">Branchiootorenal Spectrum Disorder</a>
|
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</li></ul></li><li class="half_rhythm">Prasov, Lev, MD, PhD; University of Michigan Medical School<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/myrf-cugs/?report=reader">MYRF-Related Cardiac Urogenital Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Prasun, Pankaj, MD; Icahn School of Medicine at Mount Sinai<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/lathosterolosis/?report=reader">Lathosterolosis</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/lchad/?report=reader">Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/madd/?report=reader">Multiple Acyl-CoA Dehydrogenase Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Prchal, Josef, MD; University of Utah<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pfcp/?report=reader">Primary Familial and Congenital Erythrocytosis</a>
|
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</li></ul></li><li class="half_rhythm">Preston, Matthew K, MD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/fsh/?report=reader">Facioscapulohumeral Muscular Dystrophy</a>
|
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</li></ul></li><li class="half_rhythm">Priolo, Manuela, MD; AORN A Cardarelli<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/nfix-malan/?report=reader">NFIX-Related Malan Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Priori, Silvia G, MD, PhD; ICS Maugeri<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/timothy/?report=reader">CACNA1C-Related Disorders</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/cvt/?report=reader">Catecholaminergic Polymorphic Ventricular Tachycardia</a>
|
|
</li></ul></li><li class="half_rhythm">Prior, Thomas W, PhD; Case Western Reserve University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/sma/?report=reader">Spinal Muscular Atrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Pritchard, Amanda, MD; University of Michigan<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cpt1a/?report=reader">Carnitine Palmitoyltransferase 1A Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Prokisch, Holger, PhD; Technische Universität München<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mt-mpan/?report=reader">Mitochondrial Membrane Protein-Associated Neurodegeneration</a>
|
|
</li></ul></li><li class="half_rhythm">Pronk, JC, PhD; Vrije Universiteit Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mlc/?report=reader">Megalencephalic Leukoencephalopathy with Subcortical Cysts</a>
|
|
</li></ul></li><li class="half_rhythm">Proudlock, Frank A, BSc, MSc, PhD; University of Leicester<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/xl-nystag/?report=reader">FRMD7-Related Infantile Nystagmus</a>
|
|
</li></ul></li><li class="half_rhythm">Ptacek, Louis J, MD; University of California at San Francisco<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca7/?report=reader">Spinocerebellar Ataxia Type 7</a>
|
|
</li></ul></li><li class="half_rhythm">Puck, Jennifer M, MD; University of California San Francisco<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/higes/?report=reader">STAT3 Hyper IgE Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/x-scid/?report=reader">X-Linked Severe Combined Immunodeficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Puffenberger, Erik G, PhD; Clinic for Special Children<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/msud/?report=reader">Maple Syrup Urine Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Pulst, Stefan M, MD; University of Utah<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca13/?report=reader">Spinocerebellar Ataxia Type 13</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca2/?report=reader">Spinocerebellar Ataxia Type 2</a>
|
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</li></ul></li><li class="half_rhythm">Puschmann, Andreas, MD, PhD; Lund University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca4/?report=reader">Spinocerebellar Ataxia Type 4</a>
|
|
</li></ul></li><li class="half_rhythm">Putnam, Andrea, MS; New York Weill Cornell Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cah/?report=reader">21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Puzriakova, Arina, BSc, MSc; UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca11/?report=reader">Spinocerebellar Ataxia Type 11</a>
|
|
</li></ul></li><li class="half_rhythm">Pyeritz, Reed E, MD, PhD; Hospital of the University of Pennsylvania<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hht/?report=reader">Hereditary Hemorrhagic Telangiectasia</a>
|
|
</li></ul></li><li class="half_rhythm">Pyle, Louise C, MD, PhD; Children’s National Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/myrf-cugs/?report=reader">MYRF-Related Cardiac Urogenital Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Périé, Sophie, MD, PhD; Université Pierre et Marie Curie<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/opmd/?report=reader">Oculopharyngeal Muscular Dystrophy</a>
|
|
</li></ul></li></ul></div><div id="IX-Q"><div class="h2"></div><ul class="simple-list"><li class="half_rhythm">Quijano-Roy, Susana, MD, PhD; University of Versailles Saint Quentin-en-Yvelines<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mdef-cmd/?report=reader">LAMA2 Muscular Dystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Quinonez, Shane C, MD; University of Michigan<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ctlm/?report=reader">Citrullinemia Type I</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/dld-def/?report=reader">Dihydrolipoamide Dehydrogenase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Quintero-Rivera, Fabiola, MD; University of California, Irvine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/nfia-dis/?report=reader">NFIA-Related Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/wiedemann-steiner/?report=reader">Wiedemann-Steiner Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Quintáns, Beatriz, PhD; Centro de Investigación Biomédica en red de Enfermedades Raras<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca36/?report=reader">Spinocerebellar Ataxia Type 36</a>
|
|
</li></ul></li><li class="half_rhythm">Quiroz, Vincente, MD; Harvard Medical School<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/prrt2-parox/?report=reader">PRRT2-Related Disorder</a>
|
|
</li></ul></li></ul></div><div id="IX-R"><div class="h2"></div><ul class="simple-list"><li class="half_rhythm">Raas-Rothschild, Annick, MD; Sheba Medical Center, Tel HaShomer<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ml3c/?report=reader">Mucolipidosis III Gamma</a>
|
|
</li></ul></li><li class="half_rhythm">Rabin, Rachel, MS; NYU Grossman School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/setd2-ndd/?report=reader">SETD2 Neurodevelopmental Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Rahman, Joyeeta, BSc; UCL Great Ormond Street Institute of Child Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/narp/?report=reader">Mitochondrial DNA-Associated Leigh Syndrome Spectrum</a>
|
|
</li></ul></li><li class="half_rhythm">Rahman, Nazneen, BM BCh, PhD; Institute of Cancer Research<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/weaver/?report=reader">EZH2-Related Overgrowth</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/sotos/?report=reader">Sotos Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Rahman, Shamima, PhD; UCL Great Ormond Street Institute of Child Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/narp/?report=reader">Mitochondrial DNA-Associated Leigh Syndrome Spectrum</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/leigh-nucl-ov/?report=reader">Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Rai, Karan, BS; The Ohio State University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bap1-tpds/?report=reader">BAP1 Tumor Predisposition Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Raininko, Raili, MD, PhD; Uppsala University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/lad-ad/?report=reader">LMNB1-Related Autosomal Dominant Leukodystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Rajan, Neil, MBBS, PhD; Royal Victoria Infirmary<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cyld-cs/?report=reader">CYLD Cutaneous Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Rajasekaran, Surender, MD, MPH; Spectrum Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bachmann-bupp/?report=reader">Bachmann-Bupp Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Ramnitz, Mary Scott, MD; National Institute of Dental and Craniofacial Research<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hyper-ftc/?report=reader">Hyperphosphatemic Familial Tumoral Calcinosis</a>
|
|
</li></ul></li><li class="half_rhythm">Ramos, Eliana Marisa, PhD; University of California Los Angeles<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bgc/?report=reader">Primary Familial Brain Calcification</a>
|
|
</li></ul></li><li class="half_rhythm">Rampoldi, Luca, PhD; Ospedale San Raffaele<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/chac/?report=reader">VPS13A Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Rana, Huma Q, MD; Dana-Farber Cancer Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hlrcc/?report=reader">FH Tumor Predisposition Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Rand, Casey M, BS; Ann & Robert H Lurie Children's Hospital of Chicago<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ondine/?report=reader">Congenital Central Hypoventilation Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Ranum, Laura PW, PhD; University of Florida<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/myotonic-d2/?report=reader">Myotonic Dystrophy Type 2</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca8/?report=reader">Spinocerebellar Ataxia Type 8</a>
|
|
</li></ul></li><li class="half_rhythm">Rappold, Gudrun A, PhD; Heidelberg University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/foxp1/?report=reader">FOXP1 Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/lwd/?report=reader">SHOX Deficiency Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Raskind, Wendy H, MD, PhD; University of Washington Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/adcy5-dysk/?report=reader">ADCY5 Dyskinesia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/gata1/?report=reader">GATA1-Related Cytopenia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ext/?report=reader">Hereditary Multiple Osteochondromas</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/samd9l-ap/?report=reader">SAMD9L Ataxia-Pancytopenia Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca14/?report=reader">Spinocerebellar Ataxia Type 14</a>
|
|
</li></ul></li><li class="half_rhythm">Ratisoontorn, Chootima, DDS, PhD; Chulalongkorn University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/scs/?report=reader">Saethre-Chotzen Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Rauen, Katherine A, MD, PhD; University of California, Davis<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cfc/?report=reader">Cardiofaciocutaneous Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/costello/?report=reader">HRAS-Related Costello Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Rawlings, David J, MD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/x-scid/?report=reader">X-Linked Severe Combined Immunodeficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Rawlins, Lettie E, BSc, MBChB, PhD; University of Exeter Medical School<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/kptn-dis/?report=reader">KPTN-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Rawls-Castillo, Brandy, MS, RD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tango2-mea/?report=reader">TANGO2 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Raygada, Margarita, MSc, PhD; National Institutes of Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/carney/?report=reader">Carney Complex</a>
|
|
</li></ul></li><li class="half_rhythm">Raymond, Deborah, MS; Icahn School of Medicine at Mount Sinai / Mount Sinai Beth Israel<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/dystonia/?report=reader">DYT1 Early-Onset Isolated Dystonia</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/lrrk2/?report=reader">LRRK2 Parkinson Disease</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/myo-dystonia/?report=reader">SGCE Myoclonus-Dystonia</a>
|
|
</li></ul></li><li class="half_rhythm">Raymond, F Lucy, MD, PhD; University of Cambridge<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/nsdhl-dis/?report=reader">NSDHL-Related Disorders</a>
|
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</li></ul></li><li class="half_rhythm">Raymond, Gerald V, MD; Johns Hopkins Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/x-ald/?report=reader">X-Linked Adrenoleukodystrophy</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/pbd/?report=reader">Zellweger Spectrum Disorder</a>
|
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</li></ul></li><li class="half_rhythm">Ray, Peter N, PhD; The Hospital for Sick Children<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cherubism/?report=reader">Cherubism</a>
|
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</li></ul></li><li class="half_rhythm">Rea, Hannah, PhD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/chd8-ndd-og/?report=reader">CHD8-Related Neurodevelopmental Disorder with Overgrowth</a>
|
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</li></ul></li><li class="half_rhythm">Redfield, Shelby, MS; Boston Children's Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/strc-hearing-loss/?report=reader">STRC-Related Autosomal Recessive Hearing Loss</a>
|
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</li></ul></li><li class="half_rhythm">Reding, Madeline Q, MPH, MS; Mayo Clinic<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/norrie/?report=reader">NDP-Related Retinopathies</a>
|
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</li></ul></li><li class="half_rhythm">Redman, Colvin M, PhD; The New York Blood Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mcleod/?report=reader">McLeod Neuroacanthocytosis Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Reehal, Tom; Sheffield University School of Medicine & Biomedical Sciences<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ssadh/?report=reader">Succinic Semialdehyde Dehydrogenase Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Rees, Mark I, PhD; Swansea University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hyperek/?report=reader">Hereditary Hyperekplexia Overview</a>
|
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</li></ul></li><li class="half_rhythm">Refetoff, Samuel, MD; University of Chicago Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/thctd/?report=reader">Allan-Herndon-Dudley Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Regalado, Ellen, MS; University of Texas Health Science Center at Houston McGovern Medical School<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/taa/?report=reader">Heritable Thoracic Aortic Disease Overview</a>
|
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</li></ul></li><li class="half_rhythm">Regier, Debra S, MD, PhD; Rare Disease Institute - Children’s National Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/gm1-ganglio/?report=reader">GLB1-Related Disorders</a>
|
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</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/mps4a/?report=reader">Mucopolysaccharidosis Type IVA </a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/pku/?report=reader">Phenylalanine Hydroxylase Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Rehder, Catherine, PhD; Duke University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/gsd9/?report=reader">Phosphorylase Kinase Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Reichenberger, Ernst, PhD; UConnHealth<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cranio-md/?report=reader">Craniometaphyseal Dysplasia, Autosomal Dominant</a>
|
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</li></ul></li><li class="half_rhythm">Reijnders, Margot RF, MD; Radboud Unversity Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pura-dis/?report=reader">PURA-Related Neurodevelopmental Disorders</a>
|
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</li></ul></li><li class="half_rhythm">Reilly, Mary M, MBBCh, MD; University College London<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/rfc1-canvas/?report=reader">RFC1 CANVAS / Spectrum Disorder</a>
|
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</li></ul></li><li class="half_rhythm">Reinhart, Michaela, MD; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/trmu-def/?report=reader">TRMU Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Reischl-Hajiabadi, Anna, MD; University Hospital Heidelberg<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/isovaleric-a/?report=reader">Classic Isovaleric Acidemia</a>
|
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</li></ul></li><li class="half_rhythm">Reiter, Lawrence T, PhD; University of Tennessee Health Science Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/dup15q/?report=reader">Maternal 15q Duplication Syndrome</a>
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</li></ul></li><li class="half_rhythm">Remuzzi, Giuseppe, MD; Istituto di Ricerche Farmacologiche Mario Negri–IRCCS<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/husa/?report=reader">Genetic Atypical Hemolytic-Uremic Syndrome</a>
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</li></ul></li><li class="half_rhythm">Renaud, Mathilde, MD, PhD; CHRU de Nancy<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/fgf14-ataxia/?report=reader">GAA-FGF14-Related Ataxia</a>
|
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</li></ul></li><li class="half_rhythm">Rendtorff, Nanna Dahl, PhD; University Hospital / Kennedy Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/wfs/?report=reader">WFS1 Spectrum Disorder</a>
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</li></ul></li><li class="half_rhythm">Revah-Politi, Anya, MS; Columbia University Irving Medical Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/gnb1-e/?report=reader">GNB1 Encephalopathy</a>
|
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</li></ul></li><li class="half_rhythm">Riazi, Sheila, MD; University of Toronto<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mhs/?report=reader">Malignant Hyperthermia Susceptibility</a>
|
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</li></ul></li><li class="half_rhythm">Richard, Gabriele, MD; GeneDx, Inc<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/li-ar/?report=reader">Autosomal Recessive Congenital Ichthyosis</a>
|
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</li></ul></li><li class="half_rhythm">Richard, Pascale, PharmD, PhD; APHP, Sorbonne Université<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/opmd/?report=reader">Oculopharyngeal Muscular Dystrophy</a>
|
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</li></ul></li><li class="half_rhythm">Richmond, Christopher Mark, MBBS; Royal Brisbane & Women's Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/schmid-mcd/?report=reader">Schmid Metaphyseal Chondrodysplasia</a>
|
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</li></ul></li><li class="half_rhythm">Richter, Andrea, PhD; Sainte-Justine Hospital, University of Montreal<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/arsacs/?report=reader">ARSACS</a>
|
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</li></ul></li><li class="half_rhythm">Richter, Mary K; National Foundation for Ectodermal Dysplasias<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/x-hed/?report=reader">Hypohidrotic Ectodermal Dysplasia</a>
|
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</li></ul></li><li class="half_rhythm">Rich, Thereasa A, MS; University of Texas MD Anderson Cancer Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/hrpt2/?report=reader">CDC73-Related Disorders</a>
|
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</li></ul></li><li class="half_rhythm">Rinaldo, Piero, MD, PhD; Mayo Clinic College of Medicine<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/mcad/?report=reader">Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Rioseco-Camacho, Natalia, BA; University of California, Irvine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hhhs/?report=reader">Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Robbins, Emily; George Washington University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ssadh/?report=reader">Succinic Semialdehyde Dehydrogenase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Roberts, Amy E, MD; Children's Hospital Boston<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/noonan/?report=reader">Noonan Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Roberts, Eve, MD; University of Toronto<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/wilson/?report=reader">Wilson Disease</a>
|
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</li></ul></li><li class="half_rhythm">Robertson, David, MD; Vanderbilt University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dbh/?report=reader">Dopamine Beta-Hydroxylase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Robertson, Nic, PhD; University of Edinburgh<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/rnu4atac-dis/?report=reader">RNU4atac-opathy</a>
|
|
</li></ul></li><li class="half_rhythm">Robertson, Stephen, DPhil; University of Otago<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/flnb-dis/?report=reader">FLNB Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/opd/?report=reader">X-Linked Otopalatodigital Spectrum Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Robin, Nathaniel H, MD; University of Alabama at Birmingham<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/craniosynostosis/?report=reader">FGFR Craniosynostosis Syndromes Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/stickler/?report=reader">Stickler Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Robitaille, Yves, MD; Enfant-Jesus Hospital, Quebec City<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/arsacs/?report=reader">ARSACS</a>
|
|
</li></ul></li><li class="half_rhythm">Rodan, Lance, MD; Boston Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/kmt2e-ndd/?report=reader">KMT2E-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Roetto, Antonella, PhD; University of Torino<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/tfr2/?report=reader">TFR2-Related Hemochromatosis</a>
|
|
</li></ul></li><li class="half_rhythm">Rogers, R Curtis, MD; RCR Genetics<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/gr_22q13_3/?report=reader">Phelan-McDermid Syndrome-SHANK3 Related</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/cls/?report=reader">RPS6KA3-Related Intellectual Disability</a>
|
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</li></ul></li><li class="half_rhythm">Rohrbach, Marianne, MD, PhD; University Children's Hospital Zurich<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/fkbp14-keds/?report=reader">FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome</a>
|
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</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/eds6/?report=reader">PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Rohrer, Jonathan, PhD; UCL Queen Square Institute of Neurology<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/ftdp-17/?report=reader">MAPT-Related Frontotemporal Dementia</a>
|
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</li></ul></li><li class="half_rhythm">Roifman, Maian, MD; University of Toronto<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/rob-ad/?report=reader">Autosomal Dominant Robinow Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Rolle, Myron, MD; Massachusetts General Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/muenke/?report=reader">Muenke Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Rommens, Johanna M, PhD; The Hospital for Sick Children, University of Toronto<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/sds/?report=reader">Shwachman-Diamond Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Ronco, Pierre M, MD, PhD; Hôpital Tenon / Université Pierre et Marie Curie<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/col4a1-dis/?report=reader">COL4A1-Related Disorders</a>
|
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</li></ul></li><li class="half_rhythm">Roos, Peter, MD, PhD; Rigshospitalet<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ftd-chmp2b/?report=reader">CHMP2B Frontotemporal Dementia</a>
|
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</li></ul></li><li class="half_rhythm">Roscioli, Tony, MBBS, PhD; Sydney Children’s Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/vodi/?report=reader">Hepatic Veno-Occlusive Disease with Immunodeficiency</a>
|
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</li></ul></li><li class="half_rhythm">Rosenberg, Henry, MD; Malignant Hyperthermia Association of the United States<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/mhs/?report=reader">Malignant Hyperthermia Susceptibility</a>
|
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</li></ul></li><li class="half_rhythm">Rosenberg, Stacy Lyn, MD; Children’s Hospital of Pittsburgh<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/zap70-scid/?report=reader">ZAP70-Related Combined Immunodeficiency</a>
|
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</li></ul></li><li class="half_rhythm">Rosenfeld, Jill, MS; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mdel16p12_2/?report=reader">16p12.2 Recurrent Deletion</a>
|
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</li></ul></li><li class="half_rhythm">Ross, Alison J, PhD; University College London<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/bbs/?report=reader">Bardet-Biedl Syndrome Overview</a>
|
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</li></ul></li><li class="half_rhythm">Rossetti, Sandro, MD; Mayo Clinic<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/dent/?report=reader">Dent Disease</a>
|
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</li></ul></li><li class="half_rhythm">Rossi, Alessandro, MD; University of Naples "Federico II"<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/gsd3/?report=reader">Glycogen Storage Disease Type III</a>
|
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</li></ul></li><li class="half_rhythm">Rossi, Andrea, MD; G Gaslini Pediatric Institute and University of Genova<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hypo-mcc/?report=reader">Hypomyelination and Congenital Cataract</a>
|
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</li></ul></li><li class="half_rhythm">Rossi, Christopher T, MD; Children’s National Medical Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/pp-blastoma/?report=reader">DICER1 Tumor Predisposition</a>
|
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</li></ul></li><li class="half_rhythm">Rossignol, Francis, MD; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/prolidase-def/?report=reader">Prolidase Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Rosso, Sonia M, MD, PhD; Havenziekenhuis<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/ftdp-17/?report=reader">MAPT-Related Frontotemporal Dementia</a>
|
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</li></ul></li><li class="half_rhythm">Ross, Owen A, PhD; Mayo Clinic<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/lrrk2/?report=reader">LRRK2 Parkinson Disease</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/vps35-pd/?report=reader">VPS35-Related Parkinson Disease</a>
|
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</li></ul></li><li class="half_rhythm">Roston, Alexandra, MD; University of British Columbia<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/setd1b-ndd/?report=reader">SETD1B-Related Neurodevelopmental Disorder</a>
|
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</li></ul></li><li class="half_rhythm">Rothermel, Caroline E, BA; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/gm1-ganglio/?report=reader">GLB1-Related Disorders</a>
|
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</li></ul></li><li class="half_rhythm">Roth, Fanny, PhD; Centre de Recherche en Myologie<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/opmd/?report=reader">Oculopharyngeal Muscular Dystrophy</a>
|
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</li></ul></li><li class="half_rhythm">Rouleau, Guy A, MD, PhD; McGill University<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/accpn/?report=reader">Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum</a>
|
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</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/opmd/?report=reader">Oculopharyngeal Muscular Dystrophy</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/spg8/?report=reader">Spastic Paraplegia 8</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/syne1ca-ar/?report=reader">SYNE1 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Roullet, Jean-Baptiste, PhD; Washington State University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ssadh/?report=reader">Succinic Semialdehyde Dehydrogenase Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Rouzier, Cécile, MD, PhD; Nice Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/chchd10-dis/?report=reader">CHCHD10-Related Disorders</a>
|
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</li></ul></li><li class="half_rhythm">Roze, Emmanuel, MD, PhD; Assistance Publique-Hôpitaux de Paris<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mirror/?report=reader">Congenital Mirror Movements</a>
|
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</li></ul></li><li class="half_rhythm">Ruaud, Lyse, MD, PhD; APHP-Robert Debré University Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/wdr62-pm/?report=reader">WDR62 Primary Microcephaly</a>
|
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</li></ul></li><li class="half_rhythm">Rudnick, Sean, MD; Wake Forest University School of Medicine<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/porphyria-ct/?report=reader">Familial Porphyria Cutanea Tarda</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/hep/?report=reader">Hepatoerythropoietic Porphyria</a>
|
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</li></ul></li><li class="half_rhythm">Ruivenkamp, Claudia, PhD; Leiden University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/peters-plus/?report=reader">Peters Plus Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Rumbos Siurana, Elisa, MSc; University College London<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/gria2-ndd/?report=reader">GRIA2-Related Neurodevelopmental Disorder</a>
|
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</li></ul></li><li class="half_rhythm">Rumsby, Gill, PhD; University College London Hospitals<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ph2/?report=reader">Primary Hyperoxaluria Type 2</a>
|
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</li></ul></li><li class="half_rhythm">Ruppe, Mary D, MD; The Methodist Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/rickets-xlh/?report=reader">X-Linked Hypophosphatemia</a>
|
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</li></ul></li><li class="half_rhythm">Russell, Bianca, MD; Cincinnati Childen's Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/bohring-opitz/?report=reader">Bohring-Opitz Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Russell, Meaghan K, MPH; MassGeneral Hospital for Children<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cdh-ov/?report=reader">Congenital Diaphragmatic Hernia Overview</a>
|
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</li></ul></li><li class="half_rhythm">Russman, Barry S, MD; Oregon Health and Science University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/sma/?report=reader">Spinal Muscular Atrophy</a>
|
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</li></ul></li><li class="half_rhythm">Rutkowski, Anne, MD; Cure CMD<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mdef-cmd/?report=reader">LAMA2 Muscular Dystrophy</a>
|
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</li></ul></li><li class="half_rhythm">Rutkowski, Timothy P, PhD; Emory University School of Medicine<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/mdel3q29/?report=reader">3q29 Recurrent Deletion</a>
|
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</li></ul></li><li class="half_rhythm">Rutledge, S Lane, MD; University of Alabama at Birmingham<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/nkh/?report=reader">Nonketotic Hyperglycinemia</a>
|
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</li></ul></li><li class="half_rhythm">Rutten, Julie, MD, PhD; Leiden University Medical Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/cadasil/?report=reader">CADASIL</a>
|
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</li></ul></li><li class="half_rhythm">Ryan, Brigid, PhD; University of Auckland<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/ftdp-17/?report=reader">MAPT-Related Frontotemporal Dementia</a>
|
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</li></ul></li><li class="half_rhythm">Ryan, Shannon, MSc; Montreal Children's Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/pku/?report=reader">Phenylalanine Hydroxylase Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Rydning, Siri Lynne, MD; University of Oslo<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/spg4/?report=reader">Spastic Paraplegia 4</a>
|
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</li></ul></li><li class="half_rhythm">Récan-Budiartha, Dominique, MD; Hopital Cochin<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/edmd/?report=reader">Emery-Dreifuss Muscular Dystrophy</a>
|
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</li></ul></li><li class="half_rhythm">Rødahl, Eyvind, MD, PhD; University of Bergen<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/adamtsl4-eyes/?report=reader">ADAMTSL4-Related Eye Disorders</a>
|
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</li><li class="half_rhythm">
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<a href="/books/n/gene/csc-dys/?report=reader">Congenital Stromal Corneal Dystrophy</a>
|
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</li></ul></li></ul></div><div id="IX-S"><div class="h2"></div><ul class="simple-list"><li class="half_rhythm">Saal, Howard M, MD; Cincinnati Children's Hospital Medical Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/vws/?report=reader">IRF6-Related Disorders</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/rss/?report=reader">Silver-Russell Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Saba, Julie, MD, PhD; UCSF / Benioff Children’s Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/sgpl1/?report=reader">Sphingosine Phosphate Lyase Insufficiency Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Sabet Rasekh, Parisa, MD; Children’s National Health System<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/lad-ad/?report=reader">LMNB1-Related Autosomal Dominant Leukodystrophy</a>
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</li></ul></li><li class="half_rhythm">Sacco, Keith, MD; The Royal London Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/apds/?report=reader">Activated PI3K Delta Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Sacharow, Stephanie J, MD; Boston Children's Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/homocystinuria/?report=reader">Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency</a>
|
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</li><li class="half_rhythm">
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<a href="/books/n/gene/sma-xli/?report=reader">Spinal Muscular Atrophy, X-Linked Infantile</a>
|
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</li></ul></li><li class="half_rhythm">Sadleir, Lynette Grant, MB ChB; University of Otago<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/gnb5-ndd/?report=reader">GNB5-Related Neurodevelopmental Disorder </a>
|
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</li></ul></li><li class="half_rhythm">Saenz-Ayala, Sofia, MD; Cincinnati Children's Hospital Medical Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/vlcad/?report=reader">Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency</a>
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</li></ul></li><li class="half_rhythm">Saffari, Afshin, MD; Harvard Medical School<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/epg5/?report=reader">EPG5-Related Disorder</a>
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</li></ul></li><li class="half_rhythm">Saheki, Takeyori, MD, PhD; Kagoshima University Graduate School of Medical and Dental Sciences<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/citrin/?report=reader">Citrin Deficiency</a>
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</li></ul></li><li class="half_rhythm">Sahota, Amrik, PhD; Rutgers University<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/aprt-def/?report=reader">Adenine Phosphoribosyltransferase Deficiency</a>
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</li></ul></li><li class="half_rhythm">Saito, Kayoko, MD, PhD; Tokyo Women's Medical University School of Medicine<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/fcmd/?report=reader">Fukuyama Congenital Muscular Dystrophy</a>
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</li></ul></li><li class="half_rhythm">Sajorda, Brian J, BA; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/sgbs/?report=reader">Simpson-Golabi-Behmel Syndrome Type 1</a>
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</li></ul></li><li class="half_rhythm">Sako, Shuhei, MD; Jikei University School of Medicine<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/trma/?report=reader">Thiamine-Responsive Megaloblastic Anemia Syndrome</a>
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</li></ul></li><li class="half_rhythm">Saldaris, Jacinta, PhD; Telethon Kids Institute<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/cdkl5-def/?report=reader">CDKL5 Deficiency Disorder</a>
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</li></ul></li><li class="half_rhythm">Salgado, Carlos, MD; Stanford University School of Medicine<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/siod/?report=reader">Schimke Immunoosseous Dysplasia</a>
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</li></ul></li><li class="half_rhythm">Salih, Mustafa A, Dr Med Sci, MBBS, MD; King Saud University<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/salih-myo/?report=reader">Salih Myopathy</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/cmt4c/?report=reader">SH3TC2-Related Hereditary Motor and Sensory Neuropathy</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/scan1/?report=reader">Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive</a>
|
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</li></ul></li><li class="half_rhythm">Salomons, Gajja S, PhD; Amsterdam University Medical Centers<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/creatine/?report=reader">Creatine Deficiency Disorders</a>
|
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</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/lbsl/?report=reader">Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation</a>
|
|
</li></ul></li><li class="half_rhythm">Salpea, Paraskevi, PhD; National Institutes of Health<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/carney/?report=reader">Carney Complex</a>
|
|
</li></ul></li><li class="half_rhythm">Salpietro, Vincenzo, MD; University College London<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/gria2-ndd/?report=reader">GRIA2-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Salter, Claire, BMedSci, MBBS; University of Exeter Medical School<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pi4ka/?report=reader">PI4KA-Related Disorder</a>
|
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</li></ul></li><li class="half_rhythm">Salviati, Leonardo, MD, PhD; University of Padova<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/coq10-def/?report=reader">Primary Coenzyme Q10 Deficiency Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Sambuughin, Nyamkhishig, PhD; Uniformed Services University<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/mhs/?report=reader">Malignant Hyperthermia Susceptibility</a>
|
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</li></ul></li><li class="half_rhythm">Sampaio Moura, Natalia, BS; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ada2-def/?report=reader">Adenosine Deaminase 2 Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Samson, Ricardo A, MD; Children’s Heart Center Nevada<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/jln/?report=reader">Jervell and Lange-Nielsen Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Sanchez Russo, Rossana, MD; Emory University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mdel3q29/?report=reader">3q29 Recurrent Deletion</a>
|
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</li></ul></li><li class="half_rhythm">Sandoval, Claudio, MD; New York Medical College<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/folate-mal/?report=reader">Hereditary Folate Malabsorption</a>
|
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</li></ul></li><li class="half_rhythm">Sands, Tristan T, MD, PhD; Columbia University Irving Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/csnk2b-ndd/?report=reader">CSNK2B-Related Neurodevelopmental Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/gnb1-e/?report=reader">GNB1 Encephalopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Santani, Avni B, PhD; Children’s Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cpt1a/?report=reader">Carnitine Palmitoyltransferase 1A Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Santen, Gijs, MD, PhD; Leiden University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/arid1b-dis/?report=reader">ARID1B-Related Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/coffin-siris/?report=reader">Coffin-Siris Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Santos, Fernando, MD, PhD; University of Oviedo<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hered-drta/?report=reader">Hereditary Distal Renal Tubular Acidosis</a>
|
|
</li></ul></li><li class="half_rhythm">Santos, Manuela, MD; Centro Hospitalar Universitário do Porto<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mdef-cmd/?report=reader">LAMA2 Muscular Dystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Sanz, Maureen M, PhD; Molloy College<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bloom/?report=reader">Bloom Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Sapp, Julie C, ScM; National Institutes of Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/proteus/?report=reader">Proteus Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Sardh, Eliane, MD, PhD; Karolinska University Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/aip/?report=reader">Acute Intermittent Porphyria</a>
|
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</li></ul></li><li class="half_rhythm">Sarquella-Brugada, Georgia, MD, PhD; Hospital Sant Joan de Deu<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/brugada/?report=reader">Brugada Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Sarret, Catherine, MD, PhD; Centre Hospitalier Universitaire de Clermont-Ferrand<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/thctd/?report=reader">Allan-Herndon-Dudley Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Sas, David J, DO; Mayo Clinic<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ph1/?report=reader">Primary Hyperoxaluria Type 1</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/ph3/?report=reader">Primary Hyperoxaluria Type 3</a>
|
|
</li></ul></li><li class="half_rhythm">Sassa, Shigeru, MD, PhD; The Rockefeller University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/aip/?report=reader">Acute Intermittent Porphyria</a>
|
|
</li></ul></li><li class="half_rhythm">Sattler, Elke C, MD; Ludwig Maximilian University of Munich<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bhd/?report=reader">Birt-Hogg-Dube Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Saulnier, Celine A, PhD; Neurodevelopmental Assessment & Consulting Services<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mdel3q29/?report=reader">3q29 Recurrent Deletion</a>
|
|
</li></ul></li><li class="half_rhythm">Saul, Robert A, MD; Greenwood Genetics Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/fragilex/?report=reader">FMR1 Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Saunders-Pullman, Rachel, MD, MPH; Icahn School of Medicine at Mount Sinai / Mount Sinai Beth Israel<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/lrrk2/?report=reader">LRRK2 Parkinson Disease</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/myo-dystonia/?report=reader">SGCE Myoclonus-Dystonia</a>
|
|
</li></ul></li><li class="half_rhythm">Saunders, Carol J, PhD; University of Missouri<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pitt-hopkins/?report=reader">Pitt-Hopkins Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Sauvé, Yves, PhD; University of Alberta<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/csnb/?report=reader">X-Linked Congenital Stationary Night Blindness</a>
|
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</li></ul></li><li class="half_rhythm">Savage, Sharon A, MD; National Cancer Institute, NIH<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dkc/?report=reader">Dyskeratosis Congenita and Related Telomere Biology Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Savant, Adrienne, MD, MS; Tulane University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cf/?report=reader">Cystic Fibrosis</a>
|
|
</li></ul></li><li class="half_rhythm">Savarese, Marco, PhD; University of Helsinki<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/salih-myo/?report=reader">Salih Myopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Savarirayan, Ravi, MBBS, MD; University of Melbourne<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/x-dcdp/?report=reader">Chondrodysplasia Punctata 2, X-Linked</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/fop/?report=reader">Fibrodysplasia Ossificans Progressiva</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/os-cs/?report=reader">Osteopathia Striata with Cranial Sclerosis</a>
|
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</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/pycnodys/?report=reader">Pycnodysostosis</a>
|
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</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/schmid-mcd/?report=reader">Schmid Metaphyseal Chondrodysplasia</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/td/?report=reader">Thanatophoric Dysplasia</a>
|
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</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/collagen-2/?report=reader">Type II Collagen Disorders Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Savoia, Anna, PhD; Institute for Maternal and Child Health - IRCCS Burlo Garofolo<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/myh9/?report=reader">MYH9-Related Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Scaglia, Fernando, MD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dguok-mtddepl/?report=reader">Deoxyguanosine Kinase Deficiency</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/melas/?report=reader">MELAS</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/mtdna-md-ov/?report=reader">Mitochondrial DNA Maintenance Defects Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/mpv17-mtdep/?report=reader">MPV17-Related Hepatocerebral Mitochondrial DNA Maintenance Defect</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/sucla2-def/?report=reader">SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/suclg1-mtddepl/?report=reader">SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/tango2-mea/?report=reader">TANGO2 Deficiency</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/tk2-mtddepl/?report=reader">TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form</a>
|
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</li></ul></li><li class="half_rhythm">Scarpa, Maurizio, MD, PhD; University Hospital of Udine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hunter/?report=reader">Mucopolysaccharidosis Type II</a>
|
|
</li></ul></li><li class="half_rhythm">Schaaf, Christian P, MD, PhD; Heidelberg University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mdel15q13_3/?report=reader">15q13.3 Recurrent Deletion</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/nr2f1-ndd/?report=reader">NR2F1-Related Neurodevelopmental Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/schaaf-yang/?report=reader">Schaaf-Yang Syndrome</a>
|
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</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/xq28-dup/?report=reader">Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated</a>
|
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</li></ul></li><li class="half_rhythm">Schaefer, Franz, MD; Heidelberg University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pkd-ar/?report=reader">Autosomal Recessive Polycystic Kidney Disease – PKHD1</a>
|
|
</li></ul></li><li class="half_rhythm">Schanen, N Carolyn, MD, PhD; Dup15q Alliance<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/dup15q/?report=reader">Maternal 15q Duplication Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Scharenberg, Andrew M, MD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/x-scid/?report=reader">X-Linked Severe Combined Immunodeficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Scharer, Gunter, MD, PhD; Denver Genetic Laboratories, University of Colorado<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/nkh/?report=reader">Nonketotic Hyperglycinemia</a>
|
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</li></ul></li><li class="half_rhythm">Scheffer, Ingrid E, MBBS, PhD; University of Melbourne<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/adnfle/?report=reader">Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/foxp2-sl-dis/?report=reader">FOXP2-Related Speech and Language Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/grin2a-dis/?report=reader">GRIN2A-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Scheper, Gert C, PhD; Vrije Universiteit Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/lbsl/?report=reader">Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/mlc/?report=reader">Megalencephalic Leukoencephalopathy with Subcortical Cysts</a>
|
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</li></ul></li><li class="half_rhythm">Scherer, Gerd, PhD; University of Freiburg<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/campo-dysp/?report=reader">Campomelic Dysplasia</a>
|
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</li></ul></li><li class="half_rhythm">Scheuerle, Angela E, MD; University of Texas Southwestern Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/i-p/?report=reader">Incontinentia Pigmenti</a>
|
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</li></ul></li><li class="half_rhythm">Schierbaum, Luca, MD, PhD; Boston Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ap4-def/?report=reader">AP-4-Associated Hereditary Spastic Paraplegia</a>
|
|
</li></ul></li><li class="half_rhythm">Schiffmann, Raphael, MD, MHSc; Baylor Scott & White Research Institute<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cach/?report=reader">Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter</a>
|
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</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ml4/?report=reader">Mucolipidosis IV</a>
|
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</li></ul></li><li class="half_rhythm">Schilsky, Michael, MD; Yale University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/wilson/?report=reader">Wilson Disease</a>
|
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</li></ul></li><li class="half_rhythm">Schimke, R Neil, MD; University of Kansas Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/vhl/?report=reader">Von Hippel-Lindau Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Schimmenti, Lisa A, MD; Mayo Clinic<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/myhre/?report=reader">Myhre Syndrome</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/norrie/?report=reader">NDP-Related Retinopathies</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/papr/?report=reader">PAX2-Related Disorder</a>
|
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</li></ul></li><li class="half_rhythm">Schindler, Alice, MS; National Institute of Neurological Disorders and Stroke<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cmt2c/?report=reader">Autosomal Dominant TRPV4 Disorders</a>
|
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</li></ul></li><li class="half_rhythm">Schinkel, Alfred, PhD; Netherlands Cancer Institute<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/rotor/?report=reader">Rotor Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Schirwani, Schaida, MB ChB, MSc; Sheffield Children's NHS Foundation Trust<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/asxl3/?report=reader">ASXL3-Related Disorder</a>
|
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</li></ul></li><li class="half_rhythm">Schlade-Bartusiak, Kamilla, PhD; University of Alberta<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/alpha1-a/?report=reader">Alpha-1 Antitrypsin Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Schlechter, Catherine, MS; Casey Eye Institute - Oregon Health Sciences University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/lca-ov/?report=reader">Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview</a>
|
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</li></ul></li><li class="half_rhythm">Schlis, Krysta, MD; Children's Hospital & Research Center Oakland<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/sickle/?report=reader">Sickle Cell Disease</a>
|
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</li></ul></li><li class="half_rhythm">Schlotawa, Lars, MD; University Medical Center Göttingen<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/m-sulfatase-def/?report=reader">Multiple Sulfatase Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Schmale, Gregory A, MD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ext/?report=reader">Hereditary Multiple Osteochondromas</a>
|
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</li></ul></li><li class="half_rhythm">Schmitz, Matthias, MD; University Medical School<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/prion/?report=reader">Genetic Prion Disease</a>
|
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</li></ul></li><li class="half_rhythm">Schneider, Katherine A, MPH; Dana Farber Cancer Institute<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/li-fraumeni/?report=reader">Li-Fraumeni Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Schneider, Susanne A, MD, PhD; Ludwig Maximilian University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pink1-pd/?report=reader">PINK1 Type of Young-Onset Parkinson Disease </a>
|
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</li></ul></li><li class="half_rhythm">Schneppenheim, Reinhard, MD, PhD; University Medical Center Hamburg – Eppendorf<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/rtps/?report=reader">Rhabdoid Tumor Predisposition Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Schon, Katherine Rose, MA, MB ChB; Addenbrooke's Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cip-overview/?report=reader">Congenital Insensitivity to Pain Overview</a>
|
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</li></ul></li><li class="half_rhythm">Schoser, Benedikt, MD; Ludwig-Maximilians University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/myotonic-d2/?report=reader">Myotonic Dystrophy Type 2</a>
|
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</li></ul></li><li class="half_rhythm">Schrader, Kasmintan, MBBS, PhD; University of British Columbia<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/hgc/?report=reader">Diffuse Gastric and Lobular Breast Cancer Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Schreiber, John M, MD; Children's National Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/scn8a-ee/?report=reader">SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders</a>
|
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</li></ul></li><li class="half_rhythm">Schreuder, Andrea B, MD, PhD; University Medical Center Groningen<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/gsd3/?report=reader">Glycogen Storage Disease Type III</a>
|
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</li></ul></li><li class="half_rhythm">Schrier Vergano, Samantha A, MD; Children’s Hospital of the King’s Daughters<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/arid1b-dis/?report=reader">ARID1B-Related Disorder</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/coffin-siris/?report=reader">Coffin-Siris Syndrome</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/image/?report=reader">IMAGe Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Schroer, Richard, MD; Greenwood Genetic Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/gale-def/?report=reader">Epimerase Deficiency Galactosemia</a>
|
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</li></ul></li><li class="half_rhythm">Schuchman, Edward H, PhD; Icahn School of Medicine at Mount Sinai<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/npab/?report=reader">Acid Sphingomyelinase Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Schuelke, Markus, MD; Charité - Universitätsmedizin Berlin<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/aved/?report=reader">Ataxia with Vitamin E Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Schultz, Kris Ann P, MD; Children’s Minnesota<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pp-blastoma/?report=reader">DICER1 Tumor Predisposition</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/hlrcc/?report=reader">FH Tumor Predisposition Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Schulz, Ansgar, MD; Universitätsklinik für Kinder- und Jugendmedizin<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/clcn7/?report=reader">CLCN7-Related Osteopetrosis</a>
|
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</li></ul></li><li class="half_rhythm">Schulze, Jeanine, MS; Indiana University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/parkinson-overview/?report=reader">Parkinson Disease Overview</a>
|
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</li></ul></li><li class="half_rhythm">Schutte, Brian C, PhD; Michigan State University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/vws/?report=reader">IRF6-Related Disorders</a>
|
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</li></ul></li><li class="half_rhythm">Schwartz Levine, Allison, MS; Dana Farber Cancer Institute<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/li-fraumeni/?report=reader">Li-Fraumeni Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Schwartz, Charles E, MS, PhD; Greenwood Genetic Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cls/?report=reader">RPS6KA3-Related Intellectual Disability</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/snyder-robinson/?report=reader">Snyder-Robinson Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Schwartz, Daniella M, MD; University of Pittsburgh<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/haplo-a20/?report=reader">Haploinsufficiency of A20</a>
|
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</li></ul></li><li class="half_rhythm">Schwartz, David A, MD; University of Colorado Denver<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pf/?report=reader">Pulmonary Fibrosis Predisposition Overview</a>
|
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</li></ul></li><li class="half_rhythm">Schwartz, Mary E; PC Project<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pc/?report=reader">Pachyonychia Congenita</a>
|
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</li></ul></li><li class="half_rhythm">Schwartz, Stuart, PhD; Laboratory Corporation of America<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pws/?report=reader">Prader-Willi Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Schwarz, Guenter; Cologne University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mc-def/?report=reader">Molybdenum Cofactor Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Scott, C Ronald, MD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/tyrosinemia/?report=reader">Tyrosinemia Type I</a>
|
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</li></ul></li><li class="half_rhythm">Scott, Daryl A, MD, PhD; University of Utah<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/dfnb1/?report=reader">GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/rere-dis/?report=reader">RERE-Related Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/pendred/?report=reader">SLC26A4-Related Sensorineural Hearing Loss</a>
|
|
</li></ul></li><li class="half_rhythm">Scriver, Charles R, MD; McGill University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pku/?report=reader">Phenylalanine Hydroxylase Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Scruggs, Brittni A, MD, PhD; Mayo Clinic<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/norrie/?report=reader">NDP-Related Retinopathies</a>
|
|
</li></ul></li><li class="half_rhythm">Seabra, Miguel C, MD, PhD; Imperial College School of Medicine<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/choroid/?report=reader">Choroideremia</a>
|
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</li></ul></li><li class="half_rhythm">Sebastio, Gianfranco, MD; Federico II University of Naples<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/lpi/?report=reader">Lysinuric Protein Intolerance</a>
|
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</li></ul></li><li class="half_rhythm">Seckington, Rebecca; University of Queensland School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hemochromatosis/?report=reader">HFE-Related Hemochromatosis</a>
|
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</li></ul></li><li class="half_rhythm">Sedel, Frederic, MD, PhD; MedDay Pharmaceuticals<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cc2-leuk/?report=reader">CLCN2-Related Leukoencephalopathy</a>
|
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</li></ul></li><li class="half_rhythm">Sekijima, Yoshiki, MD, PhD; Shinshu University School of Medicine<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/tfap/?report=reader">Hereditary Transthyretin Amyloidosis</a>
|
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</li></ul></li><li class="half_rhythm">Selber, Paulo, MD; Royal Children’s Hospital Melbourne<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/pura-dis/?report=reader">PURA-Related Neurodevelopmental Disorders</a>
|
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</li></ul></li><li class="half_rhythm">Seminara, Stephanie, MD; Massachusetts General Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/kms/?report=reader">Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Senaratne, T Niroshini, PhD; University of California, Los Angeles<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/nfia-dis/?report=reader">NFIA-Related Disorder</a>
|
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</li></ul></li><li class="half_rhythm">Sentner, Christiaan P, MD; University Medical Center Groningen<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/gsd3/?report=reader">Glycogen Storage Disease Type III</a>
|
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</li></ul></li><li class="half_rhythm">Sequerra Amram Cohen, Ana, PhD; Icahn School of Medicine at Mount Sinai<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/eed-og/?report=reader">EED-Related Overgrowth</a>
|
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</li></ul></li><li class="half_rhythm">Sereda, Christina, MSc; National Institutes of Health<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/choroid/?report=reader">Choroideremia</a>
|
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</li></ul></li><li class="half_rhythm">Seront, Emmanuel, MD, PhD; Cliniques universitaires Saint-Luc<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/vmcm/?report=reader">TEK-Related Venous Malformations</a>
|
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</li></ul></li><li class="half_rhythm">Sethi, Sanjeev, MD, PhD; Mayo Clinic<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mpgn/?report=reader">C3 Glomerulopathy</a>
|
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</li></ul></li><li class="half_rhythm">Shah, Hitesh, MS; Manipal Academy of Higher Education<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mona/?report=reader">Multicentric Osteolysis Nodulosis and Arthropathy</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/ppr-dysp/?report=reader">Progressive Pseudorheumatoid Dysplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Shakkottai, Vikram, MD, PhD; University of Michigan Medical School<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/sca3/?report=reader">Spinocerebellar Ataxia Type 3</a>
|
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</li></ul></li><li class="half_rhythm">Shapiro, Amy D, MD; Indiana Hemophilia & Thrombosis Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pai-1-def/?report=reader">Complete Plasminogen Activator Inhibitor 1 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Sharer, J Daniel, PhD; University of Alabama at Birmingham<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/duarte-gal/?report=reader">Duarte Variant Galactosemia</a>
|
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</li></ul></li><li class="half_rhythm">Sharpe, Lindsay T, MA, PhD; Institute of Ophthalmology<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/achm/?report=reader">Achromatopsia</a>
|
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</li></ul></li><li class="half_rhythm">Shashi, Vandana, MD; Duke University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ngly1-cddg/?report=reader">NGLY1-Related Congenital Disorder of Deglycosylation</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/shashi-pena/?report=reader">Shashi-Pena Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Shaw, Adam, BMed, MD; Guy’s & Saint Thomas’ Hospitals<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/tps/?report=reader">Trichorhinophalangeal Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Shaw, Chris, BS; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/adcy5-dysk/?report=reader">ADCY5 Dyskinesia</a>
|
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</li></ul></li><li class="half_rhythm">Shchelochkov, Oleg A, MD; National Institutes of Health<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/propionic-a/?report=reader">Propionic Acidemia</a>
|
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</li></ul></li><li class="half_rhythm">Shearer, A Eliot, MD, PhD; Harvard Medical School<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/deafness-overview/?report=reader">Genetic Hearing Loss Overview</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/dfnb9/?report=reader">OTOF-Related Deafness</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/strc-hearing-loss/?report=reader">STRC-Related Autosomal Recessive Hearing Loss</a>
|
|
</li></ul></li><li class="half_rhythm">Sheen, Volney L, MD, PhD; Harvard Medical School<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/x-pvh/?report=reader">FLNA Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Sheffield, Val C, MD, PhD; University of Iowa College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dfnb1/?report=reader">GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/pendred/?report=reader">SLC26A4-Related Sensorineural Hearing Loss</a>
|
|
</li></ul></li><li class="half_rhythm">Shelton, Celeste, MS, PhD; Ariel Precision Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pancreatitis-ov/?report=reader">Pancreatitis Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/prss1-hp/?report=reader">PRSS1-Related Hereditary Pancreatitis</a>
|
|
</li></ul></li><li class="half_rhythm">Shen, Yiping, PhD; Boston Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/del16p11_2/?report=reader">16p11.2 Recurrent Deletion</a>
|
|
</li></ul></li><li class="half_rhythm">Shephard, Elizabeth A, MSc, PhD; University College London<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/trimethylaminuria/?report=reader">Primary Trimethylaminuria</a>
|
|
</li></ul></li><li class="half_rhythm">Sheppard, Sarah E, MD, PhD; Eunice Kennedy Shriver National Institute of Child Health and Human Development<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/wiedemann-steiner/?report=reader">Wiedemann-Steiner Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Sheridan, Eamonn, MD; University of Leeds<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/rab18-def/?report=reader">RAB18 Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Sherr, Elliott H, MD, PhD; University of California, San Francisco<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ddx3x-ndd/?report=reader">DDX3X-Related Neurodevelopmental Disorder</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/rere-dis/?report=reader">RERE-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Shieh, Joseph TC, MD, PhD; University of California San Francisco<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/sys-h/?report=reader">Hyaline Fibromatosis Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Shih, Vivian E, MD; Massachusetts General Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/fum/?report=reader">Fumarate Hydratase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Shiloh-Malawsky, Yael, MD; University of North Carolina at Chapel Hill<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/drpla/?report=reader">DRPLA</a>
|
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</li></ul></li><li class="half_rhythm">Shimamura, Akiko, MD, PhD; Dana Farber Cancer Institute<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/fa/?report=reader">Fanconi Anemia</a>
|
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</li></ul></li><li class="half_rhythm">Shirvan, Leila, BA; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/tay-sachs/?report=reader">HEXA Disorders</a>
|
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</li></ul></li><li class="half_rhythm">Shneider, Benjamin L, MD; University of Pittsburgh Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pfic/?report=reader">ATP8B1 Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Shoffner, John M, MD; Medical Neurogenetics, LLC<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mngie/?report=reader">Mitochondrial Neurogastrointestinal Encephalopathy Disease</a>
|
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</li></ul></li><li class="half_rhythm">Shohat, Mordechai, MD; Maccabi Genetic Institute<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/fd/?report=reader">Familial Dysautonomia</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/fmf/?report=reader">Familial Mediterranean Fever</a>
|
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</li></ul></li><li class="half_rhythm">Sholto-Douglas-Vernon, Carolyn, PhD; St George's University of London<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/milroy/?report=reader">Milroy Disease</a>
|
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</li></ul></li><li class="half_rhythm">Shooner, Kerry, MS; Cincinnati Children's Hospital Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/vlcad/?report=reader">Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Shukla, Anju, MD; Manipal Academy of Higher Education<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/isca1-mmds/?report=reader">ISCA1-Related Multiple Mitochondrial Dysfunctions Syndrome</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/mona/?report=reader">Multicentric Osteolysis Nodulosis and Arthropathy</a>
|
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</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ppr-dysp/?report=reader">Progressive Pseudorheumatoid Dysplasia</a>
|
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</li></ul></li><li class="half_rhythm">Shultz, Sarah, PhD; Emory University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mdel3q29/?report=reader">3q29 Recurrent Deletion</a>
|
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</li></ul></li><li class="half_rhythm">Shuman, Cheryl, MS; University of Toronto<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/bws/?report=reader">Beckwith-Wiedemann Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Siddique, Nailah, MSN, RN; Northwestern University Feinberg School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/als-overview/?report=reader">Amyotrophic Lateral Sclerosis Overview</a>
|
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</li></ul></li><li class="half_rhythm">Siddique, Teepu, DSc (Hon), MD; Northwestern University Feinberg Medical School<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/als-overview/?report=reader">Amyotrophic Lateral Sclerosis Overview</a>
|
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</li></ul></li><li class="half_rhythm">Siebert, Reiner, MD; Ulm University & Ulm University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/rtps/?report=reader">Rhabdoid Tumor Predisposition Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Sieff, Colin, MBBCh; Boston Children's Hospital and Dana Farber Cancer Institute<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/diamond-b/?report=reader">Diamond-Blackfan Anemia</a>
|
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</li></ul></li><li class="half_rhythm">Sieni, Elena, MD; Meyer Children’s University Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hlh/?report=reader">Familial Hemophagocytic Lymphohistiocytosis</a>
|
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</li></ul></li><li class="half_rhythm">Sieving, Paul A, MD, PhD; University of California, Davis<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/retinoschisis/?report=reader">X-Linked Congenital Retinoschisis</a>
|
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</li></ul></li><li class="half_rhythm">Silber, Sherman J, MD; Saint Luke's Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/yci/?report=reader">Y Chromosome Infertility</a>
|
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</li></ul></li><li class="half_rhythm">Simons, Cas, PhD; University of Queensland<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/tubb4a-leuk/?report=reader">TUBB4A-Related Leukodystrophy</a>
|
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</li></ul></li><li class="half_rhythm">Simpson, Kara L, MS; Children's National Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/otc-def/?report=reader">Ornithine Transcarbamylase Deficiency</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/ucd-overview/?report=reader">Urea Cycle Disorders Overview</a>
|
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</li></ul></li><li class="half_rhythm">Sims, Katherine B, MD; Massachusetts General Hospital / Harvard Medical School<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/norrie/?report=reader">NDP-Related Retinopathies</a>
|
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</li></ul></li><li class="half_rhythm">Singal, Ashwani K, MD, MSc; University of South Dakota Sanford School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/porphyria-var/?report=reader">Variegate Porphyria</a>
|
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</li></ul></li><li class="half_rhythm">Singer, Kaitlyn, MS; Geisinger Health System<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/del16p11_2/?report=reader">16p11.2 Recurrent Deletion</a>
|
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</li></ul></li><li class="half_rhythm">Singh, Gautam K, MD; Central Michigan University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cantu/?report=reader">Cantú syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Singh, Rani H, PhD, RD; Emory University School of Medicine<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/duarte-gal/?report=reader">Duarte Variant Galactosemia</a>
|
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</li></ul></li><li class="half_rhythm">Singh, Swati, MSc; Manipal Academy of Higher Education<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/exoc6b-semd/?report=reader">EXOC6B-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity</a>
|
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</li></ul></li><li class="half_rhythm">Sinnreich, Michael, MD, PhD; Montreal Neurological Institute<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ibm/?report=reader">GNE Myopathy</a>
|
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</li></ul></li><li class="half_rhythm">Siper, Paige, PhD; Icahn School of Medicine at Mount Sinai<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/foxp1/?report=reader">FOXP1 Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Sisodiya, Sanjay, MD, PhD; UCL Queen Square Institute of Neurology<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/tbc1d24-dis/?report=reader">TBC1D24-Related Disorders</a>
|
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</li></ul></li><li class="half_rhythm">Sivakumar, Kumaraswamy, MD; St Joseph's Hospital and Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cmt2d/?report=reader">GARS-Associated Axonal Neuropathy</a>
|
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</li></ul></li><li class="half_rhythm">Skefos, Catherine M, MA, MS; The University of Texas MD Anderson Cancer Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hrpt2/?report=reader">CDC73-Related Disorders</a>
|
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</li></ul></li><li class="half_rhythm">Skinner, Jonathan Robert, MB ChB, MD; University of Auckland<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/gnb5-ndd/?report=reader">GNB5-Related Neurodevelopmental Disorder </a>
|
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</li></ul></li><li class="half_rhythm">Skinner, Steven A, MD; Greenwood Genetic Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mef2c-dis/?report=reader">MEF2C-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Skraban, Cara M, MD; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/wdr26-id/?report=reader">WDR26-Related Intellectual Disability</a>
|
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</li></ul></li><li class="half_rhythm">Slattery, Susan M, MD, MS; Northwestern University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ondine/?report=reader">Congenital Central Hypoventilation Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Slaugenhaupt, Susan A, PhD; MGH Center for Human Genetic Research / Harvard Medical School<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ml4/?report=reader">Mucolipidosis IV</a>
|
|
</li></ul></li><li class="half_rhythm">Slavotinek, Anne M, MBBS, PhD; University of California, San Francisco<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mota/?report=reader">FREM1 Autosomal Recessive Disorders </a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/fryns/?report=reader">Fryns Syndrome</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/mkks/?report=reader">McKusick-Kaufman Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Sleasman, John W, MD; Duke University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ipex/?report=reader">IPEX Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Sloan, Jennifer L, MS, PhD; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cbl/?report=reader">Disorders of Intracellular Cobalamin Metabolism</a>
|
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</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/mma/?report=reader">Isolated Methylmalonic Acidemia</a>
|
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</li></ul></li><li class="half_rhythm">Sloman, Melissa, BSc; Royal Devon University Healthcare NHS Foundation Trust<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/spondylocostal-d/?report=reader">Spondylocostal Dysostosis, Autosomal Recessive</a>
|
|
</li></ul></li><li class="half_rhythm">Smaoui, Nizar, MD; GeneDx, Inc<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/choroid/?report=reader">Choroideremia</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/retinoschisis/?report=reader">X-Linked Congenital Retinoschisis</a>
|
|
</li></ul></li><li class="half_rhythm">Smith-Simmer, Kelcy, MMSc; University of Wisconsin Carbone Cancer Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ddx41-mds/?report=reader">DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia</a>
|
|
</li></ul></li><li class="half_rhythm">Smith, Adam C, MS; University of Toronto<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bws/?report=reader">Beckwith-Wiedemann Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Smith, Ann CM, DSc (Hon), MA; National Institutes of Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sms/?report=reader">Smith-Magenis Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Smith, CI Edvard, MD, PhD; Karolinska Institutet<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/xla/?report=reader">X-Linked Agammaglobulinemia</a>
|
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</li></ul></li><li class="half_rhythm">Smith, Edward R, MD; Boston Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ccm/?report=reader">Familial Cerebral Cavernous Malformation</a>
|
|
</li></ul></li><li class="half_rhythm">Smith, Frances JD, PhD; University of Dundee<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pc/?report=reader">Pachyonychia Congenita</a>
|
|
</li></ul></li><li class="half_rhythm">Smith, Janine, MD; National Institutes of Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ml4/?report=reader">Mucolipidosis IV</a>
|
|
</li></ul></li><li class="half_rhythm">Smith, Rebecca, MS; Geisinger Health System<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/del16p11_2/?report=reader">16p11.2 Recurrent Deletion</a>
|
|
</li></ul></li><li class="half_rhythm">Smith, Richard JH, MD; University of Iowa<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/bor/?report=reader">Branchiootorenal Spectrum Disorder</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/mpgn/?report=reader">C3 Glomerulopathy</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/dfna2/?report=reader">DFNA2 Nonsyndromic Hearing Loss</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/deafness-overview/?report=reader">Genetic Hearing Loss Overview</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/dfnb1/?report=reader">GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/dfnb9/?report=reader">OTOF-Related Deafness</a>
|
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</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/pendred/?report=reader">SLC26A4-Related Sensorineural Hearing Loss</a>
|
|
</li></ul></li><li class="half_rhythm">Smith, Simone, MSc; Geisinger Health System<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pacs1-ndd/?report=reader">PACS1 Neurodevelopmental Disorder</a>
|
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</li></ul></li><li class="half_rhythm">Smith, Stephanie C, MS; University of Mississippi Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca3/?report=reader">Spinocerebellar Ataxia Type 3</a>
|
|
</li></ul></li><li class="half_rhythm">Sniderman King, Lisa, MSc; Genzyme Corporation<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/tyrosinemia/?report=reader">Tyrosinemia Type I</a>
|
|
</li></ul></li><li class="half_rhythm">Snijders Blok, Lot, MD; Radboud University Medcal Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ddx3x-ndd/?report=reader">DDX3X-Related Neurodevelopmental Disorder</a>
|
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</li></ul></li><li class="half_rhythm">Snow-Bailey, Karen, PhD; Auckland City Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/men2/?report=reader">Multiple Endocrine Neoplasia Type 2</a>
|
|
</li></ul></li><li class="half_rhythm">Snyder, Cara L, MS; CLS Genetic Consulting, LLC<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/celiac/?report=reader">Celiac Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Soares, Ana Rita, MD; Santo Antonio University Hospital Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/evc/?report=reader">Ellis-van Creveld Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Sobacchi, Cristina, MS; Humanitas Clinical and Research Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/clcn7/?report=reader">CLCN7-Related Osteopetrosis</a>
|
|
</li></ul></li><li class="half_rhythm">Sobeih, Magdi M, MD, PhD; Boston Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/del16p11_2/?report=reader">16p11.2 Recurrent Deletion</a>
|
|
</li></ul></li><li class="half_rhythm">Sobrido, Maria J, MD, PhD; Fundación Pública Galega de Medicina Xenómica-SERGAS<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/bgc/?report=reader">Primary Familial Brain Calcification</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca36/?report=reader">Spinocerebellar Ataxia Type 36</a>
|
|
</li></ul></li><li class="half_rhythm">So, Jodi Y, BA; Stanford School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ebs/?report=reader">Epidermolysis Bullosa Simplex</a>
|
|
</li></ul></li><li class="half_rhythm">Soldovieri, Maria Virginia, PhD; University of Molise<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bfns/?report=reader">KCNQ2-Related Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/kcnq3-dis/?report=reader">KCNQ3-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Soler-Alfonso, Claudia, MD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tango2-mea/?report=reader">TANGO2 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Solomon, Benjamin D, MD; National Institutes of Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hpe-overview/?report=reader">Holoprosencephaly Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Solomon, Beth, MS; National Institutes of Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sms/?report=reader">Smith-Magenis Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Solomon, Cindy, MS; Myriad Genetic Laboratories, Inc<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/fap/?report=reader">APC-Associated Polyposis Conditions</a>
|
|
</li></ul></li><li class="half_rhythm">Solomon, Sheila, MS; GeneDx, Inc<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pancreatitis-ov/?report=reader">Pancreatitis Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/prss1-hp/?report=reader">PRSS1-Related Hereditary Pancreatitis</a>
|
|
</li></ul></li><li class="half_rhythm">Song, Yuan-Zong, MD, PhD; Jinan University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/citrin/?report=reader">Citrin Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Sotero de Menezes, Marcio A, MD; Swedish Neuroscience Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gefs/?report=reader">SCN1A-Related Seizure Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Spacey, Sian, MD; University of British Columbia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pnknd/?report=reader">Familial Paroxysmal Nonkinesigenic Dyskinesia</a>
|
|
</li></ul></li><li class="half_rhythm">Sparks, Susan E, MD, PhD; Sanofi Genzyme<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cdg/?report=reader">Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/mdef-cmd/?report=reader">LAMA2 Muscular Dystrophy</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/cdg-1a/?report=reader">PMM2-CDG</a>
|
|
</li></ul></li><li class="half_rhythm">Spence, Sarah J, MD, PhD; Children’s Hospital Boston<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dup15q/?report=reader">Maternal 15q Duplication Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Sperandeo, Maria Pia, PhD; Federico II University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/lpi/?report=reader">Lysinuric Protein Intolerance</a>
|
|
</li></ul></li><li class="half_rhythm">Spiegel, Ronen, MD; Emek Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ml3c/?report=reader">Mucolipidosis III Gamma</a>
|
|
</li></ul></li><li class="half_rhythm">Spillmann, Rebecca C, MS; Duke University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/shashi-pena/?report=reader">Shashi-Pena Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Spinner, Nancy B, PhD; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alagille/?report=reader">Alagille Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Splawski, Igor, PhD; Assistant, Children's Hospital Boston<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/timothy/?report=reader">CACNA1C-Related Disorders</a>
|
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</li></ul></li><li class="half_rhythm">Sprecher, Eli, MD, PhD; Tel Aviv Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pc/?report=reader">Pachyonychia Congenita</a>
|
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</li></ul></li><li class="half_rhythm">Squires, James E, MD, MS; UPMC Children’s Hospital of Pittsburgh<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pfic/?report=reader">ATP8B1 Deficiency</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/chol-liver-ov/?report=reader">Pediatric Genetic Cholestatic Liver Disease Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Sreedharan, Jemeen, BSc, MBBS, PhD; King's College London<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/tardbp-als/?report=reader">TARDBP-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementia</a>
|
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</li></ul></li><li class="half_rhythm">Srivastava, Siddharth, MD; Boston Children's Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/alexander/?report=reader">Alexander Disease</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/setbp1-hd/?report=reader">SETBP1 Haploinsufficiency Disorder</a>
|
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</li></ul></li><li class="half_rhythm">Stanich, Peter P, MD; The Ohio State University Wexner Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/fap/?report=reader">APC-Associated Polyposis Conditions</a>
|
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</li></ul></li><li class="half_rhythm">Stanley, Charles A, MD; University of Pennsylvania<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/dmn/?report=reader">Permanent Neonatal Diabetes Mellitus</a>
|
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</li></ul></li><li class="half_rhythm">Starr, Lois J, MD, PhD; University of Nebraska Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/myhre/?report=reader">Myhre Syndrome</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/slc25a24-fps/?report=reader">SLC25A24 Fontaine Progeroid Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Statland, Jeffrey M, MD; University of Kansas Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/acpp/?report=reader">Andersen-Tawil Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Staudt, Martin, MD; LMU Munich<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/foxg1-ndd/?report=reader">FOXG1 Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Steeds, Rick, MD; University Hospitals<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/alstrom/?report=reader">Alstrom Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Steeves, Marcie, MS; MassGeneral Hospital for Children<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pitt-hopkins/?report=reader">Pitt-Hopkins Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Steinberg, Steven J, PhD; ARUP Laboratories<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/rcdp/?report=reader">Rhizomelic Chondrodysplasia Punctata Type 1</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/x-ald/?report=reader">X-Linked Adrenoleukodystrophy</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/pbd/?report=reader">Zellweger Spectrum Disorder</a>
|
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</li></ul></li><li class="half_rhythm">Steiner, Robert D, MD; University of Wisconsin School of Medicine and Public Health<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/oi/?report=reader">COL1A1/2 Osteogenesis Imperfecta</a>
|
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</li><li class="half_rhythm">
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<a href="/books/n/gene/stsl/?report=reader">Sitosterolemia</a>
|
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</li></ul></li><li class="half_rhythm">Stein, Jennifer L, MS; Cleveland Clinic Genomic Medicine Institute<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/phts/?report=reader">PTEN Hamartoma Tumor Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Steinlein, Ortrud K, MD, PhD; Ludwig Maximilian University of Munich<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/bhd/?report=reader">Birt-Hogg-Dube Syndrome</a>
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</li></ul></li><li class="half_rhythm">Steinman, Kyle J, MD; Seattle Children's Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/del16p11_2/?report=reader">16p11.2 Recurrent Deletion</a>
|
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</li></ul></li><li class="half_rhythm">Steinmann, Beat, MD; University Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/eds6/?report=reader">PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Stephens, Karen, PhD; University of Washington Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ebs/?report=reader">Epidermolysis Bullosa Simplex</a>
|
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</li></ul></li><li class="half_rhythm">Stephenson, John BP; Royal Hospital for Sick Children<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/ags/?report=reader">Aicardi-Goutieres Syndrome</a>
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</li></ul></li><li class="half_rhythm">Stepien, Karolina M, MD, PhD; Salford Royal NHS Foundation Trust<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/a-mannosidosis/?report=reader">Alpha-Mannosidosis</a>
|
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</li></ul></li><li class="half_rhythm">Sternberg, Damien, MD, PhD; Assistance Publique - Hôpitaux de Paris<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/hpp/?report=reader">Hypokalemic Periodic Paralysis</a>
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</li></ul></li><li class="half_rhythm">Sternen, Darci L, MS; Children's Hospital and Regional Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cf/?report=reader">Cystic Fibrosis</a>
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</li></ul></li><li class="half_rhythm">Stevanin, Giovanni, PhD; Hôpital de la Pitié-Salpêtrière<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/spg11/?report=reader">Spastic Paraplegia 11</a>
|
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</li></ul></li><li class="half_rhythm">Stevens, Cathy A, MD; University of Tennessee College of Medicine<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/rsts/?report=reader">Rubinstein-Taybi Syndrome</a>
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</li></ul></li><li class="half_rhythm">Stevenson, David A, MD; Stanford University<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/rasa1-rel-dis/?report=reader">Capillary Malformation-Arteriovenous Malformation Syndrome</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/hht/?report=reader">Hereditary Hemorrhagic Telangiectasia</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/legius/?report=reader">Legius Syndrome</a>
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</li></ul></li><li class="half_rhythm">Stevenson, Roger E, MD; Greenwood Genetic Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/xlmr/?report=reader">Alpha-Thalassemia X-Linked Intellectual Disability Syndrome</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/snyder-robinson/?report=reader">Snyder-Robinson Syndrome</a>
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</li></ul></li><li class="half_rhythm">Stewart, Blythe; University of Edinburgh<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/myrf-cugs/?report=reader">MYRF-Related Cardiac Urogenital Syndrome</a>
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</li></ul></li><li class="half_rhythm">Stewart, Douglas R, MD; National Cancer Institute<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/pp-blastoma/?report=reader">DICER1 Tumor Predisposition</a>
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</li></ul></li><li class="half_rhythm">Stojinski, Carol, MD, MS; Drexel University College of Medicine<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/echs1-def/?report=reader">Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Stojkovic, Tanya, MD; Institut de Myologie<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/opmd/?report=reader">Oculopharyngeal Muscular Dystrophy</a>
|
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</li></ul></li><li class="half_rhythm">Stokman, Marijn, MD, PhD; Radboud University Medical Centre<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/nephron-ov/?report=reader">Nephronophthisis-Related Ciliopathies</a>
|
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</li></ul></li><li class="half_rhythm">Stolle, Catherine A, PhD; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/vhl/?report=reader">Von Hippel-Lindau Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Stoller, James K, MD, MS; Cleveland Clinic<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/alpha1-a/?report=reader">Alpha-1 Antitrypsin Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Stone, Jeremy T, BSc; Mayo Clinic<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/lrrk2/?report=reader">LRRK2 Parkinson Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Storey, Elsdon, DPhil; Monash University<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/sca20/?report=reader">Spinocerebellar Ataxia Type 20</a>
|
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</li></ul></li><li class="half_rhythm">Stover, Niamh B, MS; Banner Health<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/bietti-cd/?report=reader">Bietti Crystalline Dystrophy</a>
|
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</li></ul></li><li class="half_rhythm">Stratakis, Constantine A, DSc, MD; Foundation for Research & Technology Hellas<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/carney/?report=reader">Carney Complex</a>
|
|
</li></ul></li><li class="half_rhythm">Stratton, Pamela, MD; National Institute of Neurological Disorders and Stroke<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/pp-blastoma/?report=reader">DICER1 Tumor Predisposition</a>
|
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</li></ul></li><li class="half_rhythm">Strauss, Arnold W, MD; Cincinnati Children's Hospital Medical Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/vlcad/?report=reader">Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Strauss, Kevin A, MD; Clinic for Special Children<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/msud/?report=reader">Maple Syrup Urine Disease</a>
|
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</li></ul></li><li class="half_rhythm">Strehlow, Vincent, MD; University of Leipzig Medical Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/grin2a-dis/?report=reader">GRIN2A-Related Disorders</a>
|
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</li></ul></li><li class="half_rhythm">Strober, Jonathan, MD; UCSF / Benioff Children’s Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/sgpl1/?report=reader">Sphingosine Phosphate Lyase Insufficiency Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Stuart, Helen M, MD; University of Manchester and Central Manchester University Hospitals NHS Foundation Trust<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/urofacial/?report=reader">Urofacial Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Stumpel, Connie, MD, PhD; Academic Hospital Maastricht<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/l1cam/?report=reader">L1 Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Stöckler-Ipsiroglu, Sylvia, MBA, MD, PhD; British Columbia Children's Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/creatine/?report=reader">Creatine Deficiency Disorders</a>
|
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</li></ul></li><li class="half_rhythm">Subramony, SH, MD; University of Florida<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/sca1/?report=reader">Spinocerebellar Ataxia Type 1</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/sca3/?report=reader">Spinocerebellar Ataxia Type 3</a>
|
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</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca8/?report=reader">Spinocerebellar Ataxia Type 8</a>
|
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</li></ul></li><li class="half_rhythm">Suchy, Sharon F, PhD; GeneDx, Inc<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cdp1-xlr/?report=reader">Chondrodysplasia Punctata 1, X-Linked</a>
|
|
</li></ul></li><li class="half_rhythm">Sudnawa, Khemika, MD; Phramongkutklao Hospital and Phramongkutklao College of Medicine<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/ppp2r5d-dis/?report=reader">PPP2R5D-Related Neurodevelopmental Disorder</a>
|
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</li></ul></li><li class="half_rhythm">Suit, Lindsey; University of California, San Francisco<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/ddx3x-ndd/?report=reader">DDX3X-Related Neurodevelopmental Disorder</a>
|
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</li></ul></li><li class="half_rhythm">Sullivan, Bonnie, MD; Children’s Mercy Kansas City<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/sgpl1/?report=reader">Sphingosine Phosphate Lyase Insufficiency Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Sumegi, Janos, MD, PhD; Cincinnati Children's Hospital Medical Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/x-lpd/?report=reader">X-Linked Lymphoproliferative Disease</a>
|
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</li></ul></li><li class="half_rhythm">Summar, Marshall L, MD; Children's National Health System<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ucd-overview/?report=reader">Urea Cycle Disorders Overview</a>
|
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</li></ul></li><li class="half_rhythm">Sumner, Charlotte J, MD; Johns Hopkins University School of Medicine<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/cmt2c/?report=reader">Autosomal Dominant TRPV4 Disorders</a>
|
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</li></ul></li><li class="half_rhythm">Sun, Angela, MD; Seattle Children's Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/arg1/?report=reader">Arginase Deficiency</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/mps7/?report=reader">Mucopolysaccharidosis Type VII</a>
|
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</li></ul></li><li class="half_rhythm">Sundal, Christina, MD, PhD; Gothenburg University<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/hdls/?report=reader">CSF1R-Related Disorder</a>
|
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</li></ul></li><li class="half_rhythm">Suominen, Tiina, MSc; University of Tampere<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/salih-myo/?report=reader">Salih Myopathy</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/udd/?report=reader">Udd Distal Myopathy - Tibial Muscular Dystrophy</a>
|
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</li></ul></li><li class="half_rhythm">Superti-Furga, Andrea, MD; University of Lausanne<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/achon1b/?report=reader">Achondrogenesis Type 1B</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/ao2/?report=reader">Atelosteogenesis Type 2</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/campo-dysp/?report=reader">Campomelic Dysplasia</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/cd-chst3/?report=reader">Chondrodysplasia with Congenital Joint Dislocations, CHST3-Related</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/diastrophic-d/?report=reader">Diastrophic Dysplasia</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/edm/?report=reader">SLC26A2-Related Multiple Epiphyseal Dysplasia</a>
|
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</li></ul></li><li class="half_rhythm">Sutton, V Reid, MD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/aic/?report=reader">Aicardi Syndrome</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/focal-dh/?report=reader">PORCN-Related Developmental Disorders</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/aec/?report=reader">TP63-Related Disorders</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/white-sutton/?report=reader">White-Sutton Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Suwannarat, Pim, MD; Faculty of Medicine, Ramathibodi Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/alkap/?report=reader">Alkaptonuria</a>
|
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</li></ul></li><li class="half_rhythm">Suzuki, Tamio, MD, PhD; Yamagata University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/oca4/?report=reader">Oculocutaneous Albinism Type 4</a>
|
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</li></ul></li><li class="half_rhythm">Sveden, Abigail, MS; Boston Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ankrd17-nds/?report=reader">ANKRD17-Related Neurodevelopmental Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Swanson, Michael, PhD; University of Colorado School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/nkh/?report=reader">Nonketotic Hyperglycinemia</a>
|
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</li></ul></li><li class="half_rhythm">Sweadner, Kathleen J, PhD; Massachusetts General Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/rapid-odp/?report=reader">ATP1A3-Related Disorder</a>
|
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</li></ul></li><li class="half_rhythm">Sweeney, Elizabeth, MB ChB, MD; Liverpool Women's Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/nail-ps/?report=reader">Nail-Patella Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Sweeney, William E, MS; Medical College and Children’s Health System of Wisconsin<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/pkd-ar/?report=reader">Autosomal Recessive Polycystic Kidney Disease – PKHD1</a>
|
|
</li></ul></li><li class="half_rhythm">Sweetser, David A, MD, PhD; Massachusetts General Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/gnao1-dis/?report=reader">GNAO1-Related Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/pitt-hopkins/?report=reader">Pitt-Hopkins Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Swoboda, Kathryn J, MD; Massachusetts General Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/rapid-odp/?report=reader">ATP1A3-Related Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/thdrd/?report=reader">Tyrosine Hydroxylase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Sybert, Virginia P, MD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ebs/?report=reader">Epidermolysis Bullosa Simplex</a>
|
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</li></ul></li><li class="half_rhythm">Symoens, Sofie, PhD; Ghent University Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/eds/?report=reader">Classic Ehlers-Danlos Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Synofzik, Matthis, MD; Center for Neurology & Hertie Institute for Clinical Brain Research<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/arsacs/?report=reader">ARSACS</a>
|
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</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/fgf14-ataxia/?report=reader">GAA-FGF14-Related Ataxia</a>
|
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</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/pnpla6-dis/?report=reader">PNPLA6 Disorders</a>
|
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</li></ul></li><li class="half_rhythm">Syx, Delfien, PhD; Ghent University Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/eds/?report=reader">Classic Ehlers-Danlos Syndrome</a>
|
|
</li></ul></li></ul></div><div id="IX-T"><div class="h2"></div><ul class="simple-list"><li class="half_rhythm">Tabarki, Brahim, MD; Prince Sultan Military Medical City<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/bgd-biotin/?report=reader">Biotin-Thiamine-Responsive Basal Ganglia Disease </a>
|
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</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/amish-mcph/?report=reader">SLC25A19-Related Thiamine Metabolism Dysfunction</a>
|
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</li></ul></li><li class="half_rhythm">Tabti, Nacira, MD, PhD; Assistance Publique - Hôpitaux de Paris<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hpp/?report=reader">Hypokalemic Periodic Paralysis</a>
|
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</li></ul></li><li class="half_rhythm">Taglialatela, Maurizio, MD, PhD; University of Naples Federico II<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/bfns/?report=reader">KCNQ2-Related Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/kcnq3-dis/?report=reader">KCNQ3-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Tait, Jonathan F, MD, PhD; University of Washington School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cf/?report=reader">Cystic Fibrosis</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/hemochromatosis/?report=reader">HFE-Related Hemochromatosis</a>
|
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</li></ul></li><li class="half_rhythm">Takahashi, Hitoshi, MD, PhD; Niigata University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/sca17/?report=reader">Spinocerebellar Ataxia Type 17</a>
|
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</li></ul></li><li class="half_rhythm">Takahashi, Toshiaki, MD, PhD; National Hospital Organization – Sendai-Nishitaga Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/miyoshi/?report=reader">Dysferlinopathy</a>
|
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</li></ul></li><li class="half_rhythm">Takasaki, Kaoru, MD; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/gata1/?report=reader">GATA1-Related Cytopenia</a>
|
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</li></ul></li><li class="half_rhythm">Takashima, Hiroshi, MD, PhD; Kagoshima University Graduate School of Medical and Dental Sciences<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/scan1/?report=reader">Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive</a>
|
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</li></ul></li><li class="half_rhythm">Talbert, Janet L, MS; Vanderbilt University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pf/?report=reader">Pulmonary Fibrosis Predisposition Overview</a>
|
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</li></ul></li><li class="half_rhythm">Tallaksen, Chantal; Hôpital de la Pitié-Salpêtrière<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/spg4/?report=reader">Spastic Paraplegia 4</a>
|
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</li></ul></li><li class="half_rhythm">Taly, Arun B, MD; National Institute of Mental Health & Neurosciences<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/huppke-brendel/?report=reader">Huppke-Brendel Syndrome</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/iso-def/?report=reader">Isolated Sulfite Oxidase Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Tamary, Hannah, MD; Schneider Children's Medical Center of Israel<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/a-thal/?report=reader">Alpha-Thalassemia</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/cda1/?report=reader">Congenital Dyserythropoietic Anemia Type I</a>
|
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</li></ul></li><li class="half_rhythm">Tamburro, Joan, DO; Cleveland Clinic<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cmtc/?report=reader">Isolated and Classic Cutis Marmorata Telangiectatica Congenita</a>
|
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</li></ul></li><li class="half_rhythm">Tamura, Deborah, RN; National Cancer Institute<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/xp/?report=reader">Xeroderma Pigmentosum</a>
|
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</li></ul></li><li class="half_rhythm">Tanase-Nakao, Kanako, MD, PhD; National Research Institute for Child Health and Development<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mirage/?report=reader">MIRAGE Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Tan, Christopher, MS; University of Chicago<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/x-dcdp/?report=reader">Chondrodysplasia Punctata 2, X-Linked</a>
|
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</li></ul></li><li class="half_rhythm">Taniguchi, Toshiyasu, MD, PhD; Fred Hutchinson Cancer Research Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/fa/?report=reader">Fanconi Anemia</a>
|
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</li></ul></li><li class="half_rhythm">Tanpaiboon, Pranoot, MD; Children's National Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mps4a/?report=reader">Mucopolysaccharidosis Type IVA </a>
|
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</li></ul></li><li class="half_rhythm">Tan, Queenie K-G, MD, PhD; Mayo Clinic<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ipex/?report=reader">IPEX Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Tan, Weizhen, MD; MassGeneral Hospital for Children<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ce-dysp/?report=reader">Cranioectodermal Dysplasia</a>
|
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</li></ul></li><li class="half_rhythm">Tan, Wen-Hann, MBBS; Boston Children’s Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/bohring-opitz/?report=reader">Bohring-Opitz Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Tarleton, Jack C, PhD; Fullerton Genetics Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/fragilex/?report=reader">FMR1 Disorders</a>
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</li></ul></li><li class="half_rhythm">Tarrant, Teresa, MD; Duke University Medical Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/ada/?report=reader">Adenosine Deaminase Deficiency</a>
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</li></ul></li><li class="half_rhythm">Tartaglia, Marco, PhD; Bambino Gesú Children’s Hospital IRCSS<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/leopard/?report=reader">Noonan Syndrome with Multiple Lentigines</a>
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</li></ul></li><li class="half_rhythm">Tatton-Brown, Katrina, BM BCh, MD; St George's University of London<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/weaver/?report=reader">EZH2-Related Overgrowth</a>
|
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</li><li class="half_rhythm">
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<a href="/books/n/gene/h1-4/?report=reader">HIST1H1E Syndrome</a>
|
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</li><li class="half_rhythm">
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<a href="/books/n/gene/sotos/?report=reader">Sotos Syndrome</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/tbrs/?report=reader">Tatton-Brown-Rahman Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Tawana, Kiran, MB ChB, PhD; Queen Mary University of London<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/cebpa-aml/?report=reader">CEBPA-Associated Familial Acute Myeloid Leukemia (AML)</a>
|
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</li></ul></li><li class="half_rhythm">Tawil, Rabi, MD; University of Rochester Medical Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/acpp/?report=reader">Andersen-Tawil Syndrome</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/fsh/?report=reader">Facioscapulohumeral Muscular Dystrophy</a>
|
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</li></ul></li><li class="half_rhythm">Taylor, Annette K, MS, PhD; Laboratory Corporation of America Holdings<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/celiac/?report=reader">Celiac Disease</a>
|
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</li></ul></li><li class="half_rhythm">Taylor, Cora M, PhD; Geisinger Health System<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/del16p11_2/?report=reader">16p11.2 Recurrent Deletion</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/chd8-ndd-og/?report=reader">CHD8-Related Neurodevelopmental Disorder with Overgrowth</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/pacs1-ndd/?report=reader">PACS1 Neurodevelopmental Disorder</a>
|
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</li></ul></li><li class="half_rhythm">Taylor, Kelly A, MS; Vanderbilt Medical Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/pfic/?report=reader">ATP8B1 Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Taylor, Matthew RG, MD, PhD; University of Colorado Anschutz Medical Campus<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/danon/?report=reader">Danon Disease</a>
|
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</li></ul></li><li class="half_rhythm">Taylor, Robert W, PhD; Newcastle University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/rrm2b-mtddepl/?report=reader">RRM2B Mitochondrial DNA Maintenance Defects</a>
|
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</li></ul></li><li class="half_rhythm">Taylor, Rohan, BSc (Hons); St George's Healthcare NHS Trust<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/rob/?report=reader">ROR2-Related Robinow Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Tchan, Michel, BMedSci, MBBS, PhD; Westmead Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/agu/?report=reader">Aspartylglucosaminuria</a>
|
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</li></ul></li><li class="half_rhythm">Teebi, Ahmad, MD; Education City<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/cherubism/?report=reader">Cherubism</a>
|
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</li></ul></li><li class="half_rhythm">Tekendo-Ngongang, Cedrik, MD; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hpe-overview/?report=reader">Holoprosencephaly Overview</a>
|
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</li></ul></li><li class="half_rhythm">Tekin, Mustafa, MD; John P Hussman Institute for Human Genomics<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/df-lamm/?report=reader">Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/dfn-myop/?report=reader">Deafness and Myopia Syndrome</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/kbgs/?report=reader">KBG Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Temple, Isabel Karen, MD; Southampton University Hospitals NHS Trust<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/dmtn/?report=reader">Diabetes Mellitus, 6q24-Related Transient Neonatal</a>
|
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</li></ul></li><li class="half_rhythm">Teng, Joyce, MD, PhD; Stanford School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ebs/?report=reader">Epidermolysis Bullosa Simplex</a>
|
|
</li></ul></li><li class="half_rhythm">Terry, Sharon F, MA; PXE International<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pxe/?report=reader">Pseudoxanthoma Elasticum</a>
|
|
</li></ul></li><li class="half_rhythm">Terwindt, Gisela M, MD, PhD; Leiden University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cadasil/?report=reader">CADASIL</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/rvcl/?report=reader">Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations</a>
|
|
</li></ul></li><li class="half_rhythm">Testa, Giuseppe, MA, MD, PhD; European Institute of Oncology<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gabriele-devries/?report=reader">Gabriele-de Vries Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Thabet, Farah, MD; Fattouma Bourguiba University Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/amish-mcph/?report=reader">SLC25A19-Related Thiamine Metabolism Dysfunction</a>
|
|
</li></ul></li><li class="half_rhythm">Thauvin-Robinet, Christel, MD, PhD; University of Burgundy<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ofd1/?report=reader">Oral-Facial-Digital Syndrome Type I</a>
|
|
</li></ul></li><li class="half_rhythm">Thibert, Ronald L, DO, MSPH; Massachusetts General Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/dup15q/?report=reader">Maternal 15q Duplication Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/pitt-hopkins/?report=reader">Pitt-Hopkins Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Thiel, Christian T; Friedrich-Alexander Universität Erlangen-Nürnberg<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/chh/?report=reader">Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders </a>
|
|
</li></ul></li><li class="half_rhythm">Thiel, Moritz, MD; University of Cologne<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/gnao1-dis/?report=reader">GNAO1-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Thoene, Jess G, MD; University of Michigan<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ctlm/?report=reader">Citrullinemia Type I</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/dld-def/?report=reader">Dihydrolipoamide Dehydrogenase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Thomas, Julian, MD; Children's Hospital Orange County<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ddx3x-ndd/?report=reader">DDX3X-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Thomas, Mervyn G, MBChB, PhD; University of Leicester<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/xl-nystag/?report=reader">FRMD7-Related Infantile Nystagmus</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/oca-oa-ov/?report=reader">Oculocutaneous Albinism and Ocular Albinism Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Thomas, Rhys, PhD; Newcastle University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hyperek/?report=reader">Hereditary Hyperekplexia Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Thomas, Shery; University of Leicester<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/xl-nystag/?report=reader">FRMD7-Related Infantile Nystagmus</a>
|
|
</li></ul></li><li class="half_rhythm">Thompson, Arthur R, MD, PhD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hemo-a/?report=reader">Hemophilia A</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/hemo-b/?report=reader">Hemophilia B</a>
|
|
</li></ul></li><li class="half_rhythm">Thompson, Reid, MD; Johns Hopkins University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/barth/?report=reader">Barth Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Thorburn, David R, PhD; Royal Children's Hospital and University of Melbourne<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/narp/?report=reader">Mitochondrial DNA-Associated Leigh Syndrome Spectrum</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/leigh-nucl-ov/?report=reader">Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Thorpe, Ryan K, MD; University of Iowa<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dfnb9/?report=reader">OTOF-Related Deafness</a>
|
|
</li></ul></li><li class="half_rhythm">Thunell, Stig, MD, PhD; Karolinska Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/aip/?report=reader">Acute Intermittent Porphyria</a>
|
|
</li></ul></li><li class="half_rhythm">Tifft, Cynthia J, MD, PhD; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gm1-ganglio/?report=reader">GLB1-Related Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/gm2a-def/?report=reader">GM2 Activator Deficiency</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/tay-sachs/?report=reader">HEXA Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/sandhoff/?report=reader">Sandhoff Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Tijssen, Marina AJ, MD; University Medical Center Groningen<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hyperek/?report=reader">Hereditary Hyperekplexia Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Tiller, George E, MD, PhD; Kaiser Permanente<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hypochondroplasia/?report=reader">Hypochondroplasia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/sedt/?report=reader">X-Linked Spondyloepiphyseal Dysplasia Tarda</a>
|
|
</li></ul></li><li class="half_rhythm">Timmerman, Vincent, PhD; Institute Born Bunge<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/gan/?report=reader">GAN-Related Neurodegeneration</a>
|
|
</li></ul></li><li class="half_rhythm">Timothy, Katherine W, BS; Harvard Medical School<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/timothy/?report=reader">CACNA1C-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Tinkle, Brad T, MD, PhD; Advocate Children’s Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/gsd2/?report=reader">Pompe Disease</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/vlcad/?report=reader">Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Tiranti, Valeria Sonia, PhD; IRCCS Foundation Carlo Besta Neurological Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ee/?report=reader">Ethylmalonic Encephalopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Tkachenko, Nataliya, MD; Santo Antonio University Hospital Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/evc/?report=reader">Ellis-van Creveld Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Todd, Peter K, MD, PhD; University of Michigan School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/fragilex/?report=reader">FMR1 Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Tokatly Latzer, Itay, MD; Boston Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ssadh/?report=reader">Succinic Semialdehyde Dehydrogenase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Tokuda, Takahiko, MD, PhD; Kyoto Prefectural University Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tfap/?report=reader">Hereditary Transthyretin Amyloidosis</a>
|
|
</li></ul></li><li class="half_rhythm">Tolar, Jakub, MD, PhD; University of Minnesota<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/fa/?report=reader">Fanconi Anemia</a>
|
|
</li></ul></li><li class="half_rhythm">Tonduti, Davide, MD, PhD; V Buzzi Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/thctd/?report=reader">Allan-Herndon-Dudley Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Toone, Jennifer, BSc; Children's and Women's Health Centre of British Columbia<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/nkh/?report=reader">Nonketotic Hyperglycinemia</a>
|
|
</li></ul></li><li class="half_rhythm">Torgerson, Troy, MD, PhD; Division of Infectious Diseases, Immunology, and Rheumatology<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ipex/?report=reader">IPEX Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Toriello, Helga V, PhD; Michigan State University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ofd1/?report=reader">Oral-Facial-Digital Syndrome Type I</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/tar/?report=reader">Thrombocytopenia Absent Radius Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Toro, Camilo, MD; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/chediak-higashi/?report=reader">Chediak-Higashi Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/gm2a-def/?report=reader">GM2 Activator Deficiency</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/tay-sachs/?report=reader">HEXA Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/sandhoff/?report=reader">Sandhoff Disease</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/amrf/?report=reader">SCARB2-Related Action Myoclonus – Renal Failure Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Toro, Jorge R, MD; National Institutes of Health<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/bhd/?report=reader">Birt-Hogg-Dube Syndrome</a>
|
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</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/hlrcc/?report=reader">FH Tumor Predisposition Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Torres, Vicente E, MD, PhD; Mayo Clinic<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pkd-ad/?report=reader">Polycystic Kidney Disease, Autosomal Dominant</a>
|
|
</li></ul></li><li class="half_rhythm">Toyoshima, Yasuko, MD, PhD; Agano Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/sca17/?report=reader">Spinocerebellar Ataxia Type 17</a>
|
|
</li></ul></li><li class="half_rhythm">Traboulsi, Elias I, MD, MEd; Cleveland Clinic Lerner College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cohen/?report=reader">Cohen Syndrome</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/cmtc/?report=reader">Isolated and Classic Cutis Marmorata Telangiectatica Congenita</a>
|
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</li></ul></li><li class="half_rhythm">Trahms, Cristine, MS, RD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/tyrosinemia/?report=reader">Tyrosinemia Type I</a>
|
|
</li></ul></li><li class="half_rhythm">Tran-Fadulu, Van, MS; University of Texas Medical School at Houston<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/taa/?report=reader">Heritable Thoracic Aortic Disease Overview</a>
|
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</li></ul></li><li class="half_rhythm">Tranebjærg, Lisbeth, MD, PhD; University of Copenhagen<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ddon/?report=reader">Deafness-Dystonia-Optic Neuronopathy Syndrome</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/jln/?report=reader">Jervell and Lange-Nielsen Syndrome</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/wfs/?report=reader">WFS1 Spectrum Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Trevisson, Eva, MD, PhD; University of Padova<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/coq10-def/?report=reader">Primary Coenzyme Q10 Deficiency Overview</a>
|
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</li></ul></li><li class="half_rhythm">Trifiro, Mark A, MD; McGill University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/androgen/?report=reader">Androgen Insensitivity Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Trinh, Joanne, BSc; University of British Columbia<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/lrrk2/?report=reader">LRRK2 Parkinson Disease</a>
|
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</li></ul></li><li class="half_rhythm">Trollet, Capucine, PhD; Centre de Recherche en Myologie<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/opmd/?report=reader">Oculopharyngeal Muscular Dystrophy</a>
|
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</li></ul></li><li class="half_rhythm">Trouillard, Oriane, BS; Institut du Cerveau et de la Moelle épinière<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mirror/?report=reader">Congenital Mirror Movements</a>
|
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</li></ul></li><li class="half_rhythm">Trzupek, Karmen M, MS; InformedDNA<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/lca-ov/?report=reader">Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/usher1/?report=reader">Usher Syndrome Type I</a>
|
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</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/usher2/?report=reader">Usher Syndrome Type II</a>
|
|
</li></ul></li><li class="half_rhythm">Tsang, Mandy HY, MMSc; University of Hong Kong<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ctnnb1-ndd/?report=reader">CTNNB1 Neurodevelopmental Disorder</a>
|
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</li></ul></li><li class="half_rhythm">Tsilou, Ekaterini, MD; Center for Biologics Evaluation and Research, US FDA<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/weill-ms/?report=reader">Weill-Marchesani Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Tsuji, Shoji, MD, PhD; University of Tokyo Graduate School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/drpla/?report=reader">DRPLA</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/sca17/?report=reader">Spinocerebellar Ataxia Type 17</a>
|
|
</li></ul></li><li class="half_rhythm">Tsunogai, Toshiki, MD; Jikei University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/trma/?report=reader">Thiamine-Responsive Megaloblastic Anemia Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Tuchman, Mendel, MD; Children's National Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ucd-overview/?report=reader">Urea Cycle Disorders Overview</a>
|
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</li></ul></li><li class="half_rhythm">Turner, Joyce T, MS; Children’s National Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/wilms-ov/?report=reader">Wilms Tumor Predisposition</a>
|
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</li></ul></li><li class="half_rhythm">Turner, Stefanie, MS; Geisinger Health System<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mdel17q12/?report=reader">17q12 Recurrent Deletion Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Turnpenny, Peter D, BSc, ChB, MB; Royal Devon University Healthcare NHS Foundation Trust<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/spondylocostal-d/?report=reader">Spondylocostal Dysostosis, Autosomal Recessive</a>
|
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</li></ul></li><li class="half_rhythm">Tuschl, Karin, MD, PhD; UCL Great Ormond Street Institute of Child Health<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hmdpc/?report=reader">Hypermanganesemia with Dystonia 1</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/slc39a14-def/?report=reader">SLC39A14 Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Tuupanen, Sari, PhD; Blueprint Genetics<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/csnb/?report=reader">X-Linked Congenital Stationary Night Blindness</a>
|
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</li></ul></li><li class="half_rhythm">Tümer, Zeynep, DMSc, MD, PhD; Rigshospitalet<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/dlg4-synap/?report=reader">DLG4-Related Synaptopathy</a>
|
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</li></ul></li><li class="half_rhythm">Tüysüz, Beyhan, MD, PhD; Istanbul University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/tps/?report=reader">Trichorhinophalangeal Syndrome</a>
|
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</li></ul></li></ul></div><div id="IX-U"><div class="h2"></div><ul class="simple-list"><li class="half_rhythm">Udd, Bjarne, MD, PhD; Tampere University Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/ano5-md/?report=reader">ANO5 Muscle Disease</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/salih-myo/?report=reader">Salih Myopathy</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/udd/?report=reader">Udd Distal Myopathy - Tibial Muscular Dystrophy</a>
|
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</li></ul></li><li class="half_rhythm">Uhlig, Holm; NIHR Oxford Biomedical Research Centre<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pi4ka/?report=reader">PI4KA-Related Disorder</a>
|
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</li></ul></li><li class="half_rhythm">Uitto, Jouni, MD, PhD; Thomas Jefferson University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/kindler/?report=reader">Kindler Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/lipoid-p/?report=reader">Lipoid Proteinosis</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/pxe/?report=reader">Pseudoxanthoma Elasticum</a>
|
|
</li></ul></li><li class="half_rhythm">Ulm Seiwert, Elizabeth, MS; Cincinnati Children's Hospital and Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/irf2bpl-dis/?report=reader">IRF2BPL-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Umair, Muhammad, PhD; King Saud Bin Abdulaziz University for Health Sciences<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/emc10-ndd/?report=reader">EMC10-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Unger, Sheila, MD; Genetica AG<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/achon1b/?report=reader">Achondrogenesis Type 1B</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ao2/?report=reader">Atelosteogenesis Type 2</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/campo-dysp/?report=reader">Campomelic Dysplasia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/cd-chst3/?report=reader">Chondrodysplasia with Congenital Joint Dislocations, CHST3-Related</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/diastrophic-d/?report=reader">Diastrophic Dysplasia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/edm/?report=reader">SLC26A2-Related Multiple Epiphyseal Dysplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Upadia, Jariya, MD; Tulane University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cf/?report=reader">Cystic Fibrosis</a>
|
|
</li></ul></li><li class="half_rhythm">Urban, Zsolt, PhD; University of Pittsburgh<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/efemp2-cutis-laxa/?report=reader">EFEMP2-Related Cutis Laxa</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/eln-cutis-laxa/?report=reader">ELN-Related Cutis Laxa</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ltbp4-cutis-laxa/?report=reader">LTBP4-Related Cutis Laxa</a>
|
|
</li></ul></li><li class="half_rhythm">Urion, David K, MD; Boston Children's Hospital / Harvard Medical School<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dbmd/?report=reader">Dystrophinopathies</a>
|
|
</li></ul></li><li class="half_rhythm">Ursini, Matilde Valeria, PhD; Institute of Genetics and Biophysics - CNR<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/i-p/?report=reader">Incontinentia Pigmenti</a>
|
|
</li></ul></li><li class="half_rhythm">Usami, Shin-ichi, MD, PhD; Shinshu University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mt-deafness/?report=reader">Nonsyndromic Hearing Loss and Deafness, Mitochondrial</a>
|
|
</li></ul></li><li class="half_rhythm">Uyanik, Gökhan, MD; Hanusch Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cask-dis/?report=reader">CASK Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/dcx/?report=reader">DCX-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Uzel, Gulbu, MD; National Institute of Allergy and Infectious Diseases<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/apds/?report=reader">Activated PI3K Delta Syndrome</a>
|
|
</li></ul></li></ul></div><div id="IX-V"><div class="h2"></div><ul class="simple-list"><li class="half_rhythm">Vahidnezhad, Hassan, MSc, PhD; Pasteur Institute of Iran<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/kindler/?report=reader">Kindler Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/lipoid-p/?report=reader">Lipoid Proteinosis</a>
|
|
</li></ul></li><li class="half_rhythm">Vakkilainen, Svetlana, MD, PhD; University of Helsinki and Helsinki University Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/chh/?report=reader">Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders </a>
|
|
</li></ul></li><li class="half_rhythm">Valdmanis, Paul N, PhD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/spg8/?report=reader">Spastic Paraplegia 8</a>
|
|
</li></ul></li><li class="half_rhythm">Valencia, C Alexander, PhD; Cincinnati Children’s Hospital Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/vlcad/?report=reader">Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Valentin, Ilia, MD; Heidelberg University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/nr2f1-ndd/?report=reader">NR2F1-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Valeriani, Emanuele, MD; Sapienza University of Rome<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/factor-v-leiden/?report=reader">Factor V Leiden Thrombophilia</a>
|
|
</li></ul></li><li class="half_rhythm">Valle, Laura, PhD; Catalan Institute of Oncology<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hnpcc/?report=reader">Lynch Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Valverde de Morales, Hannah Gabriela, MD; Integra Genetics<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ctcf-dis/?report=reader">CTCF-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">van Belzen, Martine, PhD; Leiden University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/peters-plus/?report=reader">Peters Plus Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">van Bokhoven, Hans, PhD; Radboud University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/aec/?report=reader">TP63-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">van Bon, Bregje WM, MD, PhD; Radboud University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mdel15q13_3/?report=reader">15q13.3 Recurrent Deletion</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/dyrk1a-id/?report=reader">DYRK1A Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/schinzel-giedion/?report=reader">Schinzel-Giedion Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/setbp1-hd/?report=reader">SETBP1 Haploinsufficiency Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Van Broeckhoven, Christine, DSc, PhD; University of Antwerp<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/als-ftd/?report=reader">C9orf72-Related Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia</a>
|
|
</li></ul></li><li class="half_rhythm">Van Camp, Guy, PhD; University of Antwerp<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/deafness-overview/?report=reader">Genetic Hearing Loss Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/dfnb1/?report=reader">GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/pendred/?report=reader">SLC26A4-Related Sensorineural Hearing Loss</a>
|
|
</li></ul></li><li class="half_rhythm">van de Warrenburg, Bart P, MD, PhD; Radboud University Nijmegen Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/arsacs/?report=reader">ARSACS</a>
|
|
</li></ul></li><li class="half_rhythm">Van den Veyver, Ignatia Barbara, MD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/aic/?report=reader">Aicardi Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/focal-dh/?report=reader">PORCN-Related Developmental Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">van der Crabben, Saskia N, MD, PhD; Amsterdam UMC<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/serine-def/?report=reader">Serine Deficiency Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">van der Knaap, Marjo S, MD, PhD; Amsterdam University Medical Centers<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cach/?report=reader">Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/cc2-leuk/?report=reader">CLCN2-Related Leukoencephalopathy</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/hypo-mcc/?report=reader">Hypomyelination and Congenital Cataract</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/lbsl/?report=reader">Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/mlc/?report=reader">Megalencephalic Leukoencephalopathy with Subcortical Cysts</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/tubb4a-leuk/?report=reader">TUBB4A-Related Leukodystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">van der Maarel, Silvere M, MD; Leiden University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/fsh/?report=reader">Facioscapulohumeral Muscular Dystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">van der Sluijs, Pleuntje J, MSc; Leiden University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/arid1b-dis/?report=reader">ARID1B-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">van der Zee, Julie, PhD; University of Antwerp<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/als-ftd/?report=reader">C9orf72-Related Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia</a>
|
|
</li></ul></li><li class="half_rhythm">Van Dijck, Anke, MD, PhD; University of Antwerp<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/adnp-dis/?report=reader">ADNP-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">van Dijk, Fleur S, MD, PhD; London North West University Healthcare NHS Trust<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/eds-pd/?report=reader">Periodontal Ehlers-Danlos Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/tnxb-eds/?report=reader">TNXB-Related Classical-Like Ehlers-Danlos Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">van Dijk, Tessa, MD, PhD; Leiden University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/exosc3-pc-hypo-p/?report=reader">EXOSC3 Pontocerebellar Hypoplasia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/pc-hypo-p/?report=reader">TSEN54 Pontocerebellar Hypoplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Van Esch, Hilde, MD, PhD; University Hospitals Leuven<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mecp2-dup/?report=reader">MECP2 Duplication Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Van Hauwe, Peter; University of Antwerp<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pendred/?report=reader">SLC26A4-Related Sensorineural Hearing Loss</a>
|
|
</li></ul></li><li class="half_rhythm">Van Hove, Johan LK, MD, PhD; University of Colorado School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/nkh/?report=reader">Nonketotic Hyperglycinemia</a>
|
|
</li></ul></li><li class="half_rhythm">van Karnebeek, Clara, MD, PhD; Amsterdam University Medical Centers<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ca5a-def/?report=reader">Carbonic Anhydrase VA Deficiency</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/plpbp-def/?report=reader">PLPBP Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">van Leeuwaarde, Rachel S, MD, PhD; University Medical Center Utrecht<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/vhl/?report=reader">Von Hippel-Lindau Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Van Lierop, Antoon, MD, PhD; Leiden University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sost/?report=reader">SOST-Related Sclerosing Bone Dysplasias</a>
|
|
</li></ul></li><li class="half_rhythm">Van Maldergem, Lionel, MD, PhD; Université de Franche-Comté<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cutis-laxa/?report=reader">ATP6V0A2-Related Cutis Laxa</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/bgs/?report=reader">Baller-Gerold Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/bscl/?report=reader">Berardinelli-Seip Congenital Lipodystrophy</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/fbln5-cutis-laxa/?report=reader">FBLN5-Related Cutis Laxa</a>
|
|
</li></ul></li><li class="half_rhythm">van Nesselrooij, Bernadette, MD, PhD; University Medical Center Utrecht<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/vhl/?report=reader">Von Hippel-Lindau Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">van Os, Nienke, MD, PhD; Radboud University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ataxia-telangiectas/?report=reader">Ataxia-Telangiectasia</a>
|
|
</li></ul></li><li class="half_rhythm">van Ravenswaaij-Arts, Conny M, MD, PhD; University Medical Center Groningen<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/charge/?report=reader">CHD7 Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">van Spaendonk, Rosalina ML, PhD; Amsterdam University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pmd/?report=reader">PLP1 Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">van Steensel, Maurice, MD, PhD; University Hospital Maastricht<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pc/?report=reader">Pachyonychia Congenita</a>
|
|
</li></ul></li><li class="half_rhythm">van Swieten, John C, MD, PhD; Erasmus Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ftdp-17/?report=reader">MAPT-Related Frontotemporal Dementia</a>
|
|
</li></ul></li><li class="half_rhythm">Van Zanten, Malou, PhD; St George’s, University of London<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/milroy/?report=reader">Milroy Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Vanagunas, Tomas, MD, PhD; Cincinnati Children's Hospital and Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/irf2bpl-dis/?report=reader">IRF2BPL-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Vance, Jeffery M, MD, PhD; Duke University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cmt-4a/?report=reader">GDAP1-Related Hereditary Motor and Sensory Neuropathy</a>
|
|
</li></ul></li><li class="half_rhythm">Vandana, VP, PhD; National Institute of Mental Health & Neurosciences<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/huppke-brendel/?report=reader">Huppke-Brendel Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Vander Lugt, Mark, MD; University of Michigan Medical School<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/zap70-scid/?report=reader">ZAP70-Related Combined Immunodeficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Vanderver, Adeline, MD; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/lad-ad/?report=reader">LMNB1-Related Autosomal Dominant Leukodystrophy</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/pmld1/?report=reader">Pelizaeus-Merzbacher-Like Disease 1</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/pol3-leuk/?report=reader">POLR3-Related Leukodystrophy</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/tubb4a-leuk/?report=reader">TUBB4A-Related Leukodystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Vandeweyer, Geert, PhD; Antwerp University Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/adnp-dis/?report=reader">ADNP-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">VanSickle, Elizabeth, MS; Spectrum Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bachmann-bupp/?report=reader">Bachmann-Bupp Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Vargas, Mauricio, MD, PhD; Oregon Health Sciences University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bietti-cd/?report=reader">Bietti Crystalline Dystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Varon, Raymonda, PhD; Charité – Universitätsmedizin Berlin<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/nijmegen/?report=reader">Nijmegen Breakage Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Varvagiannis, Konstantinos, MD; Cyprus Institute of Neurology & Genetics<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/trio-id/?report=reader">TRIO-Related Neurodevelopmental Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/wac-id/?report=reader">WAC-Related Intellectual Disability</a>
|
|
</li></ul></li><li class="half_rhythm">Vaughan, Douglas E, MD; Northwestern University Feinberg School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/pai-1-def/?report=reader">Complete Plasminogen Activator Inhibitor 1 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Veenhuis, Stefanie, MD; Radboud University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ataxia-telangiectas/?report=reader">Ataxia-Telangiectasia</a>
|
|
</li></ul></li><li class="half_rhythm">Veerapandiyan, Aravindhan, MBBS; University of Rochester Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/acpp/?report=reader">Andersen-Tawil Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Vega, Hugo H, MD, PhD; City University of New York<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rbs/?report=reader">ESCO2 Spectrum Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Velasco, Danita, MD; University of Nebraska Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rnu4atac-dis/?report=reader">RNU4atac-opathy</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/slc25a24-fps/?report=reader">SLC25A24 Fontaine Progeroid Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Velayos Baeza, Antonio, PhD; Wellcome Trust Centre for Human Genetics<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/chac/?report=reader">VPS13A Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Velez-Bartolomei, Frances, MD; Stanford University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/merrf/?report=reader">MERRF</a>
|
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</li></ul></li><li class="half_rhythm">Velleman, Shelley L, PhD; University of Vermont<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/dup7q11_23/?report=reader">7q11.23 Duplication Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Venance, Shannon L, MD, PhD; University of Western Ontario<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/acpp/?report=reader">Andersen-Tawil Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Venditti, Charles P, MD, PhD; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/cbl/?report=reader">Disorders of Intracellular Cobalamin Metabolism</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/mma/?report=reader">Isolated Methylmalonic Acidemia</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/propionic-a/?report=reader">Propionic Acidemia</a>
|
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</li></ul></li><li class="half_rhythm">Veneziano, Liana, PhD; Italian National Research Council<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/drpla/?report=reader">DRPLA</a>
|
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</li></ul></li><li class="half_rhythm">Venkateswaran, Sunita, MD; Children's Hospital of Eastern Ontario<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/fahn/?report=reader">Fatty Acid Hydroxylase-Associated Neurodegeneration</a>
|
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</li></ul></li><li class="half_rhythm">Verdin, Hannah, MSc, PhD; Ghent University Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/bpes/?report=reader">Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Verloes, Alain, MD, PhD; APHP-Robert Debré University Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/aspm-pm/?report=reader">ASPM Primary Microcephaly</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/baraitser-winter/?report=reader">Baraitser-Winter Cerebrofrontofacial Syndrome</a>
|
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</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/wdr62-pm/?report=reader">WDR62 Primary Microcephaly</a>
|
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</li></ul></li><li class="half_rhythm">Verma, Ishwar Chandar, MD; Sir Ganga Ram Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/primrose/?report=reader">Primrose Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Vermeer, Sascha, MD, PhD; University Hospital Leuven<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/arsacs/?report=reader">ARSACS</a>
|
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</li></ul></li><li class="half_rhythm">Vernon, Hilary, MD, PhD; Johns Hopkins University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/barth/?report=reader">Barth Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Vicart, Savine, MD; Assistance Publique – Hôpitaux de Paris<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hpp/?report=reader">Hypokalemic Periodic Paralysis</a>
|
|
</li></ul></li><li class="half_rhythm">Vichinsky, Elliott, MD; Children's Hospital & Research Center Oakland<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sickle/?report=reader">Sickle Cell Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Vig, Parminder JS, PhD; University of Mississippi Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca3/?report=reader">Spinocerebellar Ataxia Type 3</a>
|
|
</li></ul></li><li class="half_rhythm">Vihola, Anna, PhD; Fimlab Laboratories<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ano5-md/?report=reader">ANO5 Muscle Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Vikkula, Miikka, MD, PhD; Université catholique de Louvain<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/vmcm/?report=reader">TEK-Related Venous Malformations</a>
|
|
</li></ul></li><li class="half_rhythm">Vilain, Eric J, MD, PhD; Children's National Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/xxms/?report=reader">Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ahc/?report=reader">NR0B1-Related Adrenal Hypoplasia Congenita</a>
|
|
</li></ul></li><li class="half_rhythm">Villa, Anna, MD, PhD; Humanitas Clinical and Research Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/clcn7/?report=reader">CLCN7-Related Osteopetrosis</a>
|
|
</li></ul></li><li class="half_rhythm">Villanueva, Joyce, MBA, MT; Cincinnati Children's Hospital Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hlh/?report=reader">Familial Hemophagocytic Lymphohistiocytosis</a>
|
|
</li></ul></li><li class="half_rhythm">Vincent, G Michael, MD; University of Utah School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/rws/?report=reader">Long QT Syndrome Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Viskochil, David H, MD, PhD; University of Utah<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bcl11a-id/?report=reader">BCL11A-Related Intellectual Disability</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/legius/?report=reader">Legius Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Vissers, Lisenka ELM, PhD; Radboud University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ss-def/?report=reader">Squalene Synthase Deficiency</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/trio-id/?report=reader">TRIO-Related Neurodevelopmental Disorder</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/wac-id/?report=reader">WAC-Related Intellectual Disability</a>
|
|
</li></ul></li><li class="half_rhythm">Vissing, John, DMSc, MD; Rigshospitalet<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/myotonia-c/?report=reader">Myotonia Congenita</a>
|
|
</li></ul></li><li class="half_rhythm">Vnencak-Jones, Cindy, PhD; GC Vanderbilt University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/prop1/?report=reader">PROP1-Related Combined Pituitary Hormone Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Vockley, Jerry, MD, PhD; University of Pittsburgh<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mcad/?report=reader">Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/scad/?report=reader">Short-Chain Acyl-CoA Dehydrogenase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Vogel-Farley, Vanessa, BA; Dup15q Alliance<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/dup15q/?report=reader">Maternal 15q Duplication Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Volpini, Victor, MD, PhD; Bellvitge Biomedical Research Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca37/?report=reader">Spinocerebellar Ataxia Type 37</a>
|
|
</li></ul></li><li class="half_rhythm">Vos, Yvonne J, PhD; University Medical Center Groningen<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/l1cam/?report=reader">L1 Syndrome</a>
|
|
</li></ul></li></ul></div><div id="IX-W"><div class="h2"></div><ul class="simple-list"><li class="half_rhythm">Wagner, Klaus, MD, PhD; Medical University Graz<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/spg17/?report=reader">BSCL2-Related Neurologic Disorders / Seipinopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Wagner, Victoria F, MS; McGovern Medical School<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mps3/?report=reader">Mucopolysaccharidosis Type III</a>
|
|
</li></ul></li><li class="half_rhythm">Wagnon, Jacy L, PhD; University of Michigan<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/scn8a-ee/?report=reader">SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Waguespack, Steven G, MD; University of Texas MD Anderson Cancer Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hrpt2/?report=reader">CDC73-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Wakefield, Emily, MS; Cincinnati Children’s Hospital Medical Center<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/x-lpd/?report=reader">X-Linked Lymphoproliferative Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Waldman, Amy; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/alexander/?report=reader">Alexander Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Walker, Elaine F, PhD; Emory University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mdel3q29/?report=reader">3q29 Recurrent Deletion</a>
|
|
</li></ul></li><li class="half_rhythm">Walker, Ruth H, MBBS, MD, PhD; Mount Sinai School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mcleod/?report=reader">McLeod Neuroacanthocytosis Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/chac/?report=reader">VPS13A Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Walkovich, Kelly, MD; University of Michigan Medical School<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/zap70-scid/?report=reader">ZAP70-Related Combined Immunodeficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Wallace, Stephanie E, MD; Seattle Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ced/?report=reader">Camurati-Engelmann Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Wallefeld, William, BSc (Hons); Royal Perth Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mpd1/?report=reader">Laing Distal Myopathy</a>
|
|
</li></ul></li><li class="half_rhythm">Wallenius, Joel, MSc; Lund University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca4/?report=reader">Spinocerebellar Ataxia Type 4</a>
|
|
</li></ul></li><li class="half_rhythm">Walsh, Christopher A, MD, PhD; Harvard Medical School<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/x-pvh/?report=reader">FLNA Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Wanders, Ronald JA, PhD; Academic Medical Center, University of Amsterdam<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/refsum/?report=reader">Adult Refsum Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Wang, Bruce, MD; University of California San Francisco<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hcp/?report=reader">Hereditary Coproporphyria</a>
|
|
</li></ul></li><li class="half_rhythm">Wang, Dong, MD; Emory University Affiliated Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/glut1/?report=reader">Glucose Transporter Type 1 Deficiency Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/pdc/?report=reader">Pyruvate Carboxylase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Wang, Heng, MD, PhD; DDC Clinic – Center for Special Needs Children<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cohen/?report=reader">Cohen Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/gm3-def/?report=reader">GM3 Synthase Deficiency</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/prolidase-def/?report=reader">Prolidase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Wang, Hsiao-Lin, PhD; Emory University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/ctcf-dis/?report=reader">CTCF-Related Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Wang, Hua, MD, PhD; Loma Linda University<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mbtps1-semd/?report=reader">MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes</a>
|
|
</li></ul></li><li class="half_rhythm">Wang, Jing, MD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/tk2-mtddepl/?report=reader">TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form</a>
|
|
</li></ul></li><li class="half_rhythm">Wang, Julia, BS; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mpv17-mtdep/?report=reader">MPV17-Related Hepatocerebral Mitochondrial DNA Maintenance Defect</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/tk2-mtddepl/?report=reader">TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form</a>
|
|
</li></ul></li><li class="half_rhythm">Wang, Leo H, MD, PhD; University of Washington<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/fsh/?report=reader">Facioscapulohumeral Muscular Dystrophy</a>
|
|
</li></ul></li><li class="half_rhythm">Wangler, Michael F, MD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/actg2-dis/?report=reader">ACTG2 Visceral Myopathy</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/xia-gibbs/?report=reader">Xia-Gibbs Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Wang, Lisa L, MD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/bgs/?report=reader">Baller-Gerold Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/poikiloderma-n/?report=reader">Poikiloderma with Neutropenia</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/rts/?report=reader">Rothmund-Thomson Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Wang, Raymond, MD; University of California, Irvine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mps7/?report=reader">Mucopolysaccharidosis Type VII</a>
|
|
</li></ul></li><li class="half_rhythm">Wang, Zhao, MD; Beijing Friendship Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/hlh/?report=reader">Familial Hemophagocytic Lymphohistiocytosis</a>
|
|
</li></ul></li><li class="half_rhythm">Wappner, Rebecca S, MD; Riley Hospital for Children, Indiana University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/lowe/?report=reader">Lowe Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Warby, Simon C, PhD; University of Montreal<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/huntington/?report=reader">Huntington Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Warman, Matthew L, MD; Boston Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/stickler/?report=reader">Stickler Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Warner, Blake M, DDS, MPH, PhD; National Institute of Dental and Craniofacial Research<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/alpk1-auto/?report=reader">ALPK1-Related Autoinflammatory Disease</a>
|
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</li></ul></li><li class="half_rhythm">Wasserstein, Melissa P, MD; Albert Einstein College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/npab/?report=reader">Acid Sphingomyelinase Deficiency</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/issd/?report=reader">Free Sialic Acid Storage Disorders</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/krabbe/?report=reader">Krabbe Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Wassif, Christopher A, PhD; National Institute of Child Health and Human Development<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/slo/?report=reader">Smith-Lemli-Opitz Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Waterham, Hans R, PhD; Academic Medical Center, University of Amsterdam<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/refsum/?report=reader">Adult Refsum Disease</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/ss-def/?report=reader">Squalene Synthase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Waters, Aoife M, BCh, MB BAO, MSc; University College London<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/bbs/?report=reader">Bardet-Biedl Syndrome Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Waters, Michael F, MD, MS, PhD; Barrow Neurological Institute<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/sca13/?report=reader">Spinocerebellar Ataxia Type 13</a>
|
|
</li></ul></li><li class="half_rhythm">Wattendorf, Daniel J, MD; National Institutes of Health<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/xp/?report=reader">Xeroderma Pigmentosum</a>
|
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</li></ul></li><li class="half_rhythm">Watts, Giles, PhD; University of East Anglia<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ibmpfd/?report=reader">Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia</a>
|
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</li></ul></li><li class="half_rhythm">Waxman, Stephen G, MD, PhD; Yale University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/etha/?report=reader">SCN9A Neuropathic Pain Syndromes</a>
|
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</li></ul></li><li class="half_rhythm">Weaver, K Nicole, MD; Cincinnati Children’s Hospital Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/costello/?report=reader">HRAS-Related Costello Syndrome</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/sgpl1/?report=reader">Sphingosine Phosphate Lyase Insufficiency Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Weaver, W Curtis, BS; Geisinger Health System<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/del16p11_2/?report=reader">16p11.2 Recurrent Deletion</a>
|
|
</li></ul></li><li class="half_rhythm">Webb, Bryn D, MD, PhD; Icahn School of Medicine at Mount Sinai<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/stac3-dis/?report=reader">STAC3 Disorder</a>
|
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</li></ul></li><li class="half_rhythm">Weber, Frank, MD, PhD; German Air Force Center of Aviation Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hyper-pp/?report=reader">Hyperkalemic Periodic Paralysis</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/hpp/?report=reader">Hypokalemic Periodic Paralysis</a>
|
|
</li></ul></li><li class="half_rhythm">Weckhuysen, Sarah, MD, PhD; University of Antwerp<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/depdc5-epilepsy/?report=reader">DEPDC5-Related Epilepsy</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/bfns/?report=reader">KCNQ2-Related Disorders</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/kcnq3-dis/?report=reader">KCNQ3-Related Disorders</a>
|
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</li></ul></li><li class="half_rhythm">Weemaes, Corry, MD, PhD; Radboud University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ataxia-telangiectas/?report=reader">Ataxia-Telangiectasia</a>
|
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</li></ul></li><li class="half_rhythm">Weese-Mayer, Debra E, MD; Children's Memorial Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ondine/?report=reader">Congenital Central Hypoventilation Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Wei, Chongjuan, PhD; University of Texas MD Anderson Cancer Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pjs/?report=reader">Peutz-Jeghers Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Weinstein, David A, MD, MMSc; University of Connecticut<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/gsd3/?report=reader">Glycogen Storage Disease Type III</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/gsd6/?report=reader">Glycogen Storage Disease Type VI</a>
|
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</li></ul></li><li class="half_rhythm">Weisfeld-Adams, James, MB ChB; Children's Hospital Colorado<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/hfi/?report=reader">Hereditary Fructose Intolerance</a>
|
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</li></ul></li><li class="half_rhythm">Weiss, Karin, MD; Technion-Israel Institute of Technology<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/chd4-ndd/?report=reader">CHD4 Neurodevelopmental Disorder</a>
|
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</li></ul></li><li class="half_rhythm">Weiss, Karl Heinz, MD; Salem Medical Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/wilson/?report=reader">Wilson Disease</a>
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</li></ul></li><li class="half_rhythm">Weiss, Marjan M, MD, PhD; Leiden University Medical Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/peters-plus/?report=reader">Peters Plus Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Weiss, Mitchell J, MD, PhD; St Jude Children’s Research Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/gata1/?report=reader">GATA1-Related Cytopenia</a>
|
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</li></ul></li><li class="half_rhythm">Weisz Hubshman, Monika, MD, PhD; Rabin Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/fd/?report=reader">Familial Dysautonomia</a>
|
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</li></ul></li><li class="half_rhythm">Weksberg, Rosanna, MD, PhD; The Hospital for Sick Children<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/bws/?report=reader">Beckwith-Wiedemann Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Weleber, Richard G, MD; Casey Eye Institute of Oregon Health Sciences University<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/bietti-cd/?report=reader">Bietti Crystalline Dystrophy</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/lca-ov/?report=reader">Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/rp-overview/?report=reader">Nonsyndromic Retinitis Pigmentosa Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Welsh, Holly I, MS; University of Missouri<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pitt-hopkins/?report=reader">Pitt-Hopkins Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Wenger, David A, PhD; Thomas Jefferson University Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/krabbe/?report=reader">Krabbe Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Wenger, Olivia K, MD; New Leaf Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hyal2-def/?report=reader">HYAL2 Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Wenger, Tara L, MD, PhD; Seattle Children's Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/apert/?report=reader">Apert Syndrome</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/craniosynostosis/?report=reader">FGFR Craniosynostosis Syndromes Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Wensel, Christine, MS; DDC Clinic – Center for Special Needs Children<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cohen/?report=reader">Cohen Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Wenstrup, Richard, MD; Cincinnati Children's Hospital Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/eds/?report=reader">Classic Ehlers-Danlos Syndrome</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/eds6/?report=reader">PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Westbroek, Wendy, PhD; National Institutes of Health<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/chediak-higashi/?report=reader">Chediak-Higashi Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Weston, Michael D, MA; Boys Town National Research Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/usher1/?report=reader">Usher Syndrome Type I</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/usher2/?report=reader">Usher Syndrome Type II</a>
|
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</li></ul></li><li class="half_rhythm">Wevers, Ron A, PhD; Radboud University Nijmegen Medical Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/clpb-def/?report=reader">CLPB Deficiency</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/megdel/?report=reader">SERAC1 Deficiency</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/ss-def/?report=reader">Squalene Synthase Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Whatley, Sharon D, MSc, PhD; University Hospital of Wales<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/aip/?report=reader">Acute Intermittent Porphyria</a>
|
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</li></ul></li><li class="half_rhythm">Whitcomb, David C, MD, PhD; University of Pittsburgh & University of Pittsburgh Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pancreatitis-ov/?report=reader">Pancreatitis Overview</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/prss1-hp/?report=reader">PRSS1-Related Hereditary Pancreatitis</a>
|
|
</li></ul></li><li class="half_rhythm">White-Brown, Alexandre M, MSc; Children's Hospital of Eastern Ontario<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/dlg4-synap/?report=reader">DLG4-Related Synaptopathy</a>
|
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</li></ul></li><li class="half_rhythm">White, Colin T, MD; British Columbia's Children's and Women's Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ph1/?report=reader">Primary Hyperoxaluria Type 1</a>
|
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</li></ul></li><li class="half_rhythm">White, Janson, PhD; Invitae Corporation<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/white-sutton/?report=reader">White-Sutton Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">White, Stormi; Emory University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/mdel3q29/?report=reader">3q29 Recurrent Deletion</a>
|
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</li></ul></li><li class="half_rhythm">White, Susan M, MD; Victorian Clinical Genetics Service<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/fhs/?report=reader">Floating-Harbor Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Whitman, Mary C, MD, PhD; Harvard Medical School<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cfeom/?report=reader">Congenital Fibrosis of the Extraocular Muscles Overview</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/duane/?report=reader">Duane Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Whitton, Chloe, BMed, MD; University of New South Wales<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/atn1-ndd/?report=reader">ATN1-Related Neurodevelopmental Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Wictorin, Klas, MD, PhD; Lund University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/sca4/?report=reader">Spinocerebellar Ataxia Type 4</a>
|
|
</li></ul></li><li class="half_rhythm">Wider, Christian, MD; Centre Hospitalier Universitaire Vaudois<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/perry/?report=reader">DCTN1-Related Neurodegeneration</a>
|
|
</li></ul></li><li class="half_rhythm">Wieczorek, Dagmar, MD; Universitätsklinikum Düsseldorf<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/coffin-siris/?report=reader">Coffin-Siris Syndrome</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/burn-mckeown/?report=reader">TXNL4A-Related Craniofacial Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Wierenga, Andrea, PhD; SIVOTEC Bioinformatics<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mbtps1-semd/?report=reader">MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes</a>
|
|
</li></ul></li><li class="half_rhythm">Wierenga, Klaas, MD; Mayo Clinic Florida<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/mbtps1-semd/?report=reader">MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes</a>
|
|
</li><li class="half_rhythm">
|
|
<a href="/books/n/gene/sptbn4/?report=reader">SPTBN4 Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Wieser, Thomas, MD; Fachkrankenhaus Jerichow<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/cpt2/?report=reader">Carnitine Palmitoyltransferase II Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Wiesner, Georgia L, MD, MS; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/men2/?report=reader">Multiple Endocrine Neoplasia Type 2</a>
|
|
</li></ul></li><li class="half_rhythm">Wilcox, William R, MD, PhD; Emory University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ced/?report=reader">Camurati-Engelmann Disease</a>
|
|
</li></ul></li><li class="half_rhythm">Wildin, Robert S, MD; Oregon Health Sciences University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ndi/?report=reader">Hereditary Nephrogenic Diabetes Insipidus</a>
|
|
</li></ul></li><li class="half_rhythm">Wilkie, Andrew OM, MA; University of Oxford<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/msx2/?report=reader">Enlarged Parietal Foramina</a>
|
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</li></ul></li><li class="half_rhythm">Wilkin, Douglas J; Federal Bureau of Investigation<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/achondroplasia/?report=reader">Achondroplasia</a>
|
|
</li></ul></li><li class="half_rhythm">Willemsen, Michèl, MD, PhD; Radboud University Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ataxia-telangiectas/?report=reader">Ataxia-Telangiectasia</a>
|
|
</li></ul></li><li class="half_rhythm">Williams, Charles A, MD; University of Florida College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/angelman/?report=reader">Angelman Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Williams, Denise, MD; Birmingham Women's and Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/alstrom/?report=reader">Alstrom Syndrome</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/wfs/?report=reader">WFS1 Spectrum Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Williams, Gretchen, BS; Children’s Hospitals and Clinics of Minnesota<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pp-blastoma/?report=reader">DICER1 Tumor Predisposition</a>
|
|
</li></ul></li><li class="half_rhythm">Williamson, Kathleen A, PhD; University of Edinburgh<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/sox2/?report=reader">SOX2 Disorder</a>
|
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</li></ul></li><li class="half_rhythm">Wilson, Frederick H, MD, PhD; Harvard Medical School<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pha2/?report=reader">Pseudohypoaldosteronism Type II</a>
|
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</li></ul></li><li class="half_rhythm">Wilson, Jenny, MD; Oregon Health & Science University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/nbia-ov/?report=reader">Neurodegeneration with Brain Iron Accumulation Disorders Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Winkler, Jürgen, MD; University Hospital Erlangen<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/dcx/?report=reader">DCX-Related Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Winter, Robin M; Institute of Child Health<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/gr_3ms/?report=reader">3-M Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Wise, Anastasia L, PhD; National Jewish Health and University of Colorado Denver<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/pf/?report=reader">Pulmonary Fibrosis Predisposition Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Wissinger, Bernd, MSc, PhD; University of Tübingen<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/achm/?report=reader">Achromatopsia</a>
|
|
</li></ul></li><li class="half_rhythm">Wiwattanadittakul, Natrujee, MD; Chiang Mai University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ssadh/?report=reader">Succinic Semialdehyde Dehydrogenase Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Wlodarski, Marcin, MD, PhD; St Jude Children’s Research Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/monosomy7-ov/?report=reader">Monosomy 7 Predisposition Syndromes Overview</a>
|
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</li></ul></li><li class="half_rhythm">Wojcieszek, Joanne, MD; Indiana University School of Medicine<ul class="simple-list"><li class="half_rhythm">
|
|
<a href="/books/n/gene/parkinson-overview/?report=reader">Parkinson Disease Overview</a>
|
|
</li></ul></li><li class="half_rhythm">Wolf, Barry, MD, PhD; Ann and Robert H Lurie Children's Hospital of Chicago<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/biotin/?report=reader">Biotinidase Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Wolfe, Lynne, ARNP, MS; National Human Genome Research Institute<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ngly1-cddg/?report=reader">NGLY1-Related Congenital Disorder of Deglycosylation</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/scad/?report=reader">Short-Chain Acyl-CoA Dehydrogenase Deficiency</a>
|
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</li></ul></li><li class="half_rhythm">Wolf, Nicole I, MD, PhD; Amsterdam University Medical Centers<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/hypo-mcc/?report=reader">Hypomyelination and Congenital Cataract</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/pi4ka/?report=reader">PI4KA-Related Disorder</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/pmd/?report=reader">PLP1 Disorders</a>
|
|
</li></ul></li><li class="half_rhythm">Wollnik, Bernd, MD; University of Cologne<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/coffin-siris/?report=reader">Coffin-Siris Syndrome</a>
|
|
</li></ul></li><li class="half_rhythm">Wong, Derek, MD; University of California Los Angeles Medical Center<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/arg1/?report=reader">Arginase Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Wong, Lee-Jun C, PhD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/dguok-mtddepl/?report=reader">Deoxyguanosine Kinase Deficiency</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/fars2-def/?report=reader">FARS2 Deficiency</a>
|
|
</li><li class="half_rhythm">
|
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<a href="/books/n/gene/fbxl4-mtddepl/?report=reader">FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/mtdna-md-ov/?report=reader">Mitochondrial DNA Maintenance Defects Overview</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/mpv17-mtdep/?report=reader">MPV17-Related Hepatocerebral Mitochondrial DNA Maintenance Defect</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/tk2-mtddepl/?report=reader">TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form</a>
|
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</li></ul></li><li class="half_rhythm">Wong, Melanie, MBBS, PhD; Children's Hospital at Westmead<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/vodi/?report=reader">Hepatic Veno-Occlusive Disease with Immunodeficiency</a>
|
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</li></ul></li><li class="half_rhythm">Woods, Christopher Geoffrey, MB ChB; University of Cambridge<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/cip-overview/?report=reader">Congenital Insensitivity to Pain Overview</a>
|
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</li></ul></li><li class="half_rhythm">Woolf, Adrian S, MA, MD; University of Manchester and Central Manchester University Hospitals NHS Foundation Trust<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/urofacial/?report=reader">Urofacial Syndrome</a>
|
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</li></ul></li><li class="half_rhythm">Wortmann, Saskia B, MD, PhD; Salzburger Landeskliniken and Paracelsus Medical University<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/clpb-def/?report=reader">CLPB Deficiency</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/megdel/?report=reader">SERAC1 Deficiency</a>
|
|
</li></ul></li><li class="half_rhythm">Wright, Benjamin, MD; University Hospitals Birmingham<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/wfs/?report=reader">WFS1 Spectrum Disorder</a>
|
|
</li></ul></li><li class="half_rhythm">Wright, Galen EB, PhD; University of British Columbia<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/huntington/?report=reader">Huntington Disease</a>
|
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</li></ul></li><li class="half_rhythm">Wright, J Timothy, DDS, MS; University of North Carolina<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/x-hed/?report=reader">Hypohidrotic Ectodermal Dysplasia</a>
|
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</li></ul></li><li class="half_rhythm">Wright, Michael J, ChB, MB, MSc; Institute of Human Genetics<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/psach/?report=reader">COMP-Related Pseudoachondroplasia</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/edm-ad/?report=reader">Multiple Epiphyseal Dysplasia, Dominant</a>
|
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</li></ul></li><li class="half_rhythm">Wszolek, Zbigniew K, MD; Mayo Clinic<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/aars2-dis/?report=reader">AARS2-Related Disorder</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/hdls/?report=reader">CSF1R-Related Disorder</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/perry/?report=reader">DCTN1-Related Neurodegeneration</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/gnal-dystonia/?report=reader">DYT-GNAL</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/vps35-pd/?report=reader">VPS35-Related Parkinson Disease</a>
|
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</li></ul></li><li class="half_rhythm">Wu, Bai-Lin, M Med, PhD; Boston Children's Hospital<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/del16p11_2/?report=reader">16p11.2 Recurrent Deletion</a>
|
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</li></ul></li><li class="half_rhythm">Wuyts, Wim, PhD; University and University Hospital of Antwerp<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/ext/?report=reader">Hereditary Multiple Osteochondromas</a>
|
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</li></ul></li></ul></div><div id="IX-X"><div class="h2"></div><ul class="simple-list"><li class="half_rhythm">Xia, Maya, BA; COMBINEDBrain<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/scn8a-ee/?report=reader">SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders</a>
|
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</li></ul></li><li class="half_rhythm">Xiao, Changrui, MD; University of California Irvine<ul class="simple-list"><li class="half_rhythm">
|
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<a href="/books/n/gene/gm2a-def/?report=reader">GM2 Activator Deficiency</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/sandhoff/?report=reader">Sandhoff Disease</a>
|
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</li><li class="half_rhythm">
|
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<a href="/books/n/gene/amrf/?report=reader">SCARB2-Related Action Myoclonus – Renal Failure Syndrome</a>
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</li></ul></li><li class="half_rhythm">Xin, Baozhong, PhD; DDC Clinic – Center for Special Needs Children<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/gm3-def/?report=reader">GM3 Synthase Deficiency</a>
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</li></ul></li><li class="half_rhythm">Xu, Manlong, MD, PhD; University of Alberta<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/choroid/?report=reader">Choroideremia</a>
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</li></ul></li></ul></div><div id="IX-Y"><div class="h2"></div><ul class="simple-list"><li class="half_rhythm">Yamada, Koki, MD, PhD; Children's Hospital Boston<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/cfeom/?report=reader">Congenital Fibrosis of the Extraocular Muscles Overview</a>
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</li></ul></li><li class="half_rhythm">Yamada, Mitsunori, MD, PhD; Shinshu University School of Medicine<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/sca17/?report=reader">Spinocerebellar Ataxia Type 17</a>
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</li></ul></li><li class="half_rhythm">Yamamura, Tomohiko, MD, PhD; Kobe University<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/alport/?report=reader">Alport Syndrome</a>
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</li></ul></li><li class="half_rhythm">Yamanaka, Koji, MD, PhD; RIKEN Brain Science Institute<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/iahsp/?report=reader">ALS2-Related Disorder</a>
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</li></ul></li><li class="half_rhythm">Yang, Jiandong, PhD; George Washington University School of Medicine<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/pp-blastoma/?report=reader">DICER1 Tumor Predisposition</a>
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</li></ul></li><li class="half_rhythm">Yang, Kathryn, MD; Harvard Medical School<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/prrt2-parox/?report=reader">PRRT2-Related Disorder</a>
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</li></ul></li><li class="half_rhythm">Yang, Paul, MD, PhD; Casey Eye Institute - Oregon Health Sciences University<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/bietti-cd/?report=reader">Bietti Crystalline Dystrophy</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/lca-ov/?report=reader">Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview</a>
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</li></ul></li><li class="half_rhythm">Yang, Yaping, PhD; AiLife Diagnostics<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/tango2-mea/?report=reader">TANGO2 Deficiency</a>
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</li></ul></li><li class="half_rhythm">Yap, Kai Lee, PhD; Northwestern University<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/ondine/?report=reader">Congenital Central Hypoventilation Syndrome</a>
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</li></ul></li><li class="half_rhythm">Yates, T Michael, MBChB; University of Edinburgh<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/sox2/?report=reader">SOX2 Disorder</a>
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</li></ul></li><li class="half_rhythm">Yau, Mabel, MD; Mount Sinai School of Medicine<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/cah/?report=reader">21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia</a>
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</li></ul></li><li class="half_rhythm">Yehia, Lamis, PhD; Cleveland Clinic<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/phts/?report=reader">PTEN Hamartoma Tumor Syndrome</a>
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</li></ul></li><li class="half_rhythm">Yen, Timothy, MD; University of Colorado Anschutz Medical Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/fap/?report=reader">APC-Associated Polyposis Conditions</a>
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</li></ul></li><li class="half_rhythm">Yeowell, Heather N, PhD; Duke University Medical Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/eds6/?report=reader">PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome</a>
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</li></ul></li><li class="half_rhythm">Yntema, Helger G, PhD; Radboud University Medical Center<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/kleefstra/?report=reader">Kleefstra Syndrome</a>
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</li></ul></li><li class="half_rhythm">Yonker, Lael, MD; MassGeneral Hospital for Children<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/pitt-hopkins/?report=reader">Pitt-Hopkins Syndrome</a>
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</li></ul></li><li class="half_rhythm">Yoshida, Kunihiro, MD, PhD; Shinshu University Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/tfap/?report=reader">Hereditary Transthyretin Amyloidosis</a>
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</li></ul></li><li class="half_rhythm">Youngblom, Emily, BA; University of Washington School of Public Health<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/hyperchol/?report=reader">Familial Hypercholesterolemia</a>
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</li></ul></li><li class="half_rhythm">Young, Danielle O, MS; Kimball Genetics, Inc<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/celiac/?report=reader">Celiac Disease</a>
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</li></ul></li><li class="half_rhythm">Young, Elizabeth, BSc, PhD; Royal Devon and Exeter Healthcare NHS Trust<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/spondylocostal-d/?report=reader">Spondylocostal Dysostosis, Autosomal Recessive</a>
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</li></ul></li><li class="half_rhythm">Young, William F, MD, MSc; Mayo Clinic<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/paragangliomas/?report=reader">Hereditary Paraganglioma-Pheochromocytoma Syndromes</a>
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</li></ul></li><li class="half_rhythm">Youssefian, Leila, MSc, PhD; Thomas Jefferson University<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/kindler/?report=reader">Kindler Syndrome</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/lipoid-p/?report=reader">Lipoid Proteinosis</a>
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</li></ul></li><li class="half_rhythm">Yu-Wai-Man, Patrick, BMedSci, MBBS, PhD; University of Cambridge<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/lhon/?report=reader">Leber Hereditary Optic Neuropathy</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/nr2f1-ndd/?report=reader">NR2F1-Related Neurodevelopmental Disorder</a>
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</li></ul></li><li class="half_rhythm">Yuan, Bo, PhD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/potocki-lupski/?report=reader">Potocki-Lupski Syndrome</a>
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</li></ul></li></ul></div><div id="IX-Z"><div class="h2"></div><ul class="simple-list"><li class="half_rhythm">Zackai, Elaine H, MD; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/gr_22q11deletion/?report=reader">22q11.2 Deletion Syndrome</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/emanuel/?report=reader">Emanuel Syndrome</a>
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</li></ul></li><li class="half_rhythm">Zadeh, Neda, MD; CHOC Children’s Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/kcnk9-is/?report=reader">KCNK9 Imprinting Syndrome</a>
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</li></ul></li><li class="half_rhythm">Zaki, Maha S, MD, PhD; National Research Centre<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/unc80-def/?report=reader">UNC80 Deficiency</a>
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</li></ul></li><li class="half_rhythm">Zandee, Wouter, MD, PhD; University Medical Center Groningen<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/vhl/?report=reader">Von Hippel-Lindau Syndrome</a>
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</li></ul></li><li class="half_rhythm">Zara, Federico, PhD; G Gaslini Pediatric Institute and University of Genova<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/hypo-mcc/?report=reader">Hypomyelination and Congenital Cataract</a>
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</li></ul></li><li class="half_rhythm">Zarate, Yuri A, MD; University of Arkansas for Medical Sciences<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/satb2-dis/?report=reader">SATB2-Associated Syndrome</a>
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</li></ul></li><li class="half_rhythm">Zariwala, Maimoona A, MSc, PhD; University of North Carolina at Chapel Hill<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/pcd/?report=reader">Primary Ciliary Dyskinesia</a>
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</li></ul></li><li class="half_rhythm">Zbuk, Kevin M, MD; Cleveland Clinic Genomic Medicine Institute<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/phts/?report=reader">PTEN Hamartoma Tumor Syndrome</a>
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</li></ul></li><li class="half_rhythm">Zelley, Kristin, MS; Children's Hospital of Philadelphia<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/li-fraumeni/?report=reader">Li-Fraumeni Syndrome</a>
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</li></ul></li><li class="half_rhythm">Zerr, Inga, MD; University Medical School<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/prion/?report=reader">Genetic Prion Disease</a>
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</li></ul></li><li class="half_rhythm">Zhai, Yi, MD, PhD; University of Alberta<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/choroid/?report=reader">Choroideremia</a>
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</li></ul></li><li class="half_rhythm">Zhang, Kejian, MBA, MD; GoBroad Healthcare Group<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/alps/?report=reader">Autoimmune Lymphoproliferative Syndrome</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/hlh/?report=reader">Familial Hemophagocytic Lymphohistiocytosis</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/vlcad/?report=reader">Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/was/?report=reader">WAS-Related Disorders</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/xlhi/?report=reader">X-Linked Hyper IgM Syndrome</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/x-lpd/?report=reader">X-Linked Lymphoproliferative Disease</a>
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</li></ul></li><li class="half_rhythm">Ziegler, John B, MBBS, MD; Sydney Children's Hospital<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/vodi/?report=reader">Hepatic Veno-Occlusive Disease with Immunodeficiency</a>
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</li></ul></li><li class="half_rhythm">Ziegler, Shira G, MD, PhD; Johns Hopkins University School of Medicine<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/gaci/?report=reader">Generalized Arterial Calcification of Infancy</a>
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</li></ul></li><li class="half_rhythm">Zipfel, Peter F, PhD; Hans Knoll Institute<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/mpgn/?report=reader">C3 Glomerulopathy</a>
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</li></ul></li><li class="half_rhythm">Zippin, Jonathan, MD, PhD; Joan and Sanford I Weill Medical College of Cornell University<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/oca-oa-ov/?report=reader">Oculocutaneous Albinism and Ocular Albinism Overview</a>
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</li></ul></li><li class="half_rhythm">Zobor, Ditta, MD, PhD; University of Tübingen<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/achm/?report=reader">Achromatopsia</a>
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</li></ul></li><li class="half_rhythm">Zoghbi, Huda Y, MD; Baylor College of Medicine<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/rett/?report=reader">MECP2 Disorders</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/sca1/?report=reader">Spinocerebellar Ataxia Type 1</a>
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</li></ul></li><li class="half_rhythm">Zschocke, Johannes, MD, PhD; Medical University of Innsbruck<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/eds-pd/?report=reader">Periodontal Ehlers-Danlos Syndrome</a>
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</li></ul></li><li class="half_rhythm">Züchner, Stephan, MD, PhD; University of Miami Miller School of Medicine<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/fgf14-ataxia/?report=reader">GAA-FGF14-Related Ataxia</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/cmt-4a/?report=reader">GDAP1-Related Hereditary Motor and Sensory Neuropathy</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/cmt2a/?report=reader">MFN2 Hereditary Motor and Sensory Neuropathy</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/pnpla6-dis/?report=reader">PNPLA6 Disorders</a>
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</li></ul></li></ul></div><div id="IX-3450"><div class="h2"></div><ul class="simple-list"><li class="half_rhythm">Živná, Martina, PhD; Charles University<ul class="simple-list"><li class="half_rhythm">
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<a href="/books/n/gene/mckd1/?report=reader">Autosomal Dominant Tubulointerstitial Kidney Disease -- MUC1</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/hyper-nfj2/?report=reader">Autosomal Dominant Tubulointerstitial Kidney Disease -- REN</a>
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</li><li class="half_rhythm">
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<a href="/books/n/gene/mckd2/?report=reader">Autosomal Dominant Tubulointerstitial Kidney Disease -- UMOD</a>
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</li></ul></li></ul></div><div id="bk_toc_contnr"></div></div></div><div class="fm-sec"><h2 id="_NBK132723_pubdet_">Publication Details</h2><h3>Copyright</h3><div><div class="half_rhythm"><a href="/books/about/copyright/">Copyright</a> © 1993-2025, University of Washington, Seattle. GeneReviews is
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