Etiology
Wang B,
Yan M,
Liu C,
Yang Z,
Wang X,
Zhao F,
Wang Z,
Li P,
Wang Y,
Li S,
Liu G,
Liu P
NeuroRehabilitation
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Peddu D,
Amin S,
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Otol Neurotol
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Colombo L,
Maltese PE,
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El Shamieh S,
Zeitz C,
Audo I,
Zulian A,
Marinelli C,
Benedetti S,
Costantini A,
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Invest Ophthalmol Vis Sci
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Hum Mutat
1997;9(6):477-99.
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Diagnosis
Colombo L,
Maltese PE,
Castori M,
El Shamieh S,
Zeitz C,
Audo I,
Zulian A,
Marinelli C,
Benedetti S,
Costantini A,
Bressan S,
Percio M,
Ferri P,
Abeshi A,
Bertelli M,
Rossetti L
Invest Ophthalmol Vis Sci
2021 Feb 1;62(2):13.
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Bhambhani V,
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Am Fam Physician
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Marcocci E,
Uliana V,
Bruttini M,
Artuso R,
Silengo MC,
Zerial M,
Bergesio F,
Amoroso A,
Savoldi S,
Pennesi M,
Giachino D,
Rombolà G,
Fogazzi GB,
Rosatelli C,
Martinhago CD,
Carmellini M,
Mancini R,
Di Costanzo G,
Longo I,
Renieri A,
Mari F
Nephrol Dial Transplant
2009 May;24(5):1464-71.
Epub 2009 Jan 7
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PMID: 19129241
Lemmink HH,
Schröder CH,
Monnens LA,
Smeets HJ
Hum Mutat
1997;9(6):477-99.
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PMID: 9195222
Therapy
Chen X,
Yan K,
Gao Y,
Wang H,
Chen G,
Wu B,
Qin Q,
Yang L,
Zhou W
BMC Med Genet
2019 May 30;20(1):93.
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2018 Jul;176(7):1648-1656.
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Hedrich CM,
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Hahn G,
Roesler J,
Roesen-Wolff A,
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2008 Sep-Oct;37(5):385-9.
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Minárik G,
Ferák V,
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Ficek A,
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Kádasi L
Gen Physiol Biophys
2003 Dec;22(4):549-56.
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Prognosis
Lachgar-Ruiz M,
Morín M,
Martelletti E,
Ingham NJ,
Preite L,
Lewis MA,
Serrão de Castro LS,
Steel KP,
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Colombo L,
Maltese PE,
Castori M,
El Shamieh S,
Zeitz C,
Audo I,
Zulian A,
Marinelli C,
Benedetti S,
Costantini A,
Bressan S,
Percio M,
Ferri P,
Abeshi A,
Bertelli M,
Rossetti L
Invest Ophthalmol Vis Sci
2021 Feb 1;62(2):13.
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PMID: 33576794Free PMC Article
Grati M,
Yan D,
Raval MH,
Walsh T,
Ma Q,
Chakchouk I,
Kannan-Sundhari A,
Mittal R,
Masmoudi S,
Blanton SH,
Tekin M,
King MC,
Yengo CM,
Liu XZ
Hum Mutat
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Verver EJ,
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Huygen PL,
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Pujol-Moix N,
Savoia A,
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Fierro T,
Grolman W,
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Ear Hear
2016 Jan-Feb;37(1):112-20.
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PMID: 26226608
Marcocci E,
Uliana V,
Bruttini M,
Artuso R,
Silengo MC,
Zerial M,
Bergesio F,
Amoroso A,
Savoldi S,
Pennesi M,
Giachino D,
Rombolà G,
Fogazzi GB,
Rosatelli C,
Martinhago CD,
Carmellini M,
Mancini R,
Di Costanzo G,
Longo I,
Renieri A,
Mari F
Nephrol Dial Transplant
2009 May;24(5):1464-71.
Epub 2009 Jan 7
doi: 10.1093/ndt/gfn681.
PMID: 19129241
Clinical prediction guides
Lachgar-Ruiz M,
Morín M,
Martelletti E,
Ingham NJ,
Preite L,
Lewis MA,
Serrão de Castro LS,
Steel KP,
Moreno-Pelayo MÁ
Dis Model Mech
2023 Aug 1;16(8)
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Mei Y,
Zhang H,
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Front Endocrinol (Lausanne)
2022;13:935905.
Epub 2022 Jul 14
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Li Q,
Zhao Z,
Wu B,
Pang Q,
Cui L,
Zhang L,
Jiang Y,
Wang O,
Li M,
Xing X,
Hu Y,
Yu W,
Meng X,
Jiajue R,
Xia W
J Bone Miner Res
2022 Jan;37(1):78-86.
Epub 2021 Sep 28
doi: 10.1002/jbmr.4436.
PMID: 34490910
Nakanishi H,
Kawashima Y,
Kurima K,
Chae JJ,
Ross AM,
Pinto-Patarroyo G,
Patel SK,
Muskett JA,
Ratay JS,
Chattaraj P,
Park YH,
Grevich S,
Brewer CC,
Hoa M,
Kim HJ,
Butman JA,
Broderick L,
Hoffman HM,
Aksentijevich I,
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Goldbach-Mansky R,
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Proc Natl Acad Sci U S A
2017 Sep 12;114(37):E7766-E7775.
Epub 2017 Aug 28
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PMID: 28847925Free PMC Article
Grati M,
Yan D,
Raval MH,
Walsh T,
Ma Q,
Chakchouk I,
Kannan-Sundhari A,
Mittal R,
Masmoudi S,
Blanton SH,
Tekin M,
King MC,
Yengo CM,
Liu XZ
Hum Mutat
2016 May;37(5):481-7.
Epub 2016 Feb 16
doi: 10.1002/humu.22961.
PMID: 26841241Free PMC Article