Etiology
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Diagnosis
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Valayannopoulos V,
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Therapy
Harmatz PR,
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Prognosis
Ademhan Tural D,
Emiralioglu N,
Dogru D,
Ozsezen B,
Ipek OF,
Sunman B,
Nayir Buyuksahin H,
Guzelkas I,
Ciki K,
Kilic K,
Vardar Yagli N,
Yalcin E,
Kiper N,
Sivri S,
Ozcelik U
Am J Med Genet A
2021 Aug;185(8):2306-2314.
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Mol Genet Metab
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Kadayıfçılar S,
Genç A,
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Borlot F,
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Brain Dev
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Valayannopoulos V,
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Orphanet J Rare Dis
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Clinical prediction guides
Ademhan Tural D,
Emiralioglu N,
Dogru D,
Ozsezen B,
Ipek OF,
Sunman B,
Nayir Buyuksahin H,
Guzelkas I,
Ciki K,
Kilic K,
Vardar Yagli N,
Yalcin E,
Kiper N,
Sivri S,
Ozcelik U
Am J Med Genet A
2021 Aug;185(8):2306-2314.
Epub 2021 May 7
doi: 10.1002/ajmg.a.62229.
PMID: 33960649
Garcia P,
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Johnson J,
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Randolph LM,
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Harmatz P
Mol Genet Metab
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Epub 2021 Mar 11
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Borlot F,
Arantes PR,
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Franco JF,
Lourenço CM,
Bertola DR,
Kim CA
Brain Dev
2014 Aug;36(7):585-92.
Epub 2013 Aug 21
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Jurecka A,
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Cimbalistiene L,
Gusina N,
Kulpanovich A,
Golda A,
Opoka-Winiarska V,
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Am J Med Genet A
2013 Jun;161A(6):1291-9.
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