Etiology
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Clin Genet
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J Med Genet
1970 Jun;7(2):185-8.
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Diagnosis
Chen Y,
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Chen X,
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Li C,
Fu Y,
He A,
Wang Y,
Zhang T,
Ma J
Mol Genet Genomic Med
2024 Apr;12(4):e2426.
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Baker L,
Dabir TA,
Dipple KM,
Dobyns WB,
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Faghfoury H,
Favaro FP,
Goel H,
Gregersen PA,
Gripp KW,
Grix A,
Guion-Almeida ML,
Harr MH,
Hudson C,
Hunter AG,
Johnson J,
Joss SK,
Kimball A,
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Kline AD,
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Lildballe DL,
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Martinezmoles J,
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Mirzaa GM,
Morel CF,
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Temple IK;
UCLA Clinical Genomics Center,
van de Kamp JM,
van Dijk FS,
Vandersteen AM,
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Care4Rare Canada Consortium,
Bulman DE,
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Hum Mutat
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Clin Genet
2015 Nov;88(5):405-15.
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2007 Jul;18(3):499-514.
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Johansson M,
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Therapy
Neophytou P,
Artemiadis A,
Hadjigeorgiou GM,
Zis P
Acta Neurol Belg
2023 Oct;123(5):1693-1701.
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Jiang F,
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2020 Jun 8;29(2):236-243.
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Balci S,
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Prognosis
Bano S,
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2024 Feb;34(2):187-192.
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Thomas HB,
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Gordon CT,
Pingault V,
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Hum Mutat
2020 Aug;41(8):1372-1382.
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Am J Med Genet A
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Clinical prediction guides
Antal G,
Zsigmond A,
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Int J Mol Sci
2024 Oct 23;25(21)
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Chen Y,
Yang R,
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Fu Y,
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Wang Y,
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Ma J
Mol Genet Genomic Med
2024 Apr;12(4):e2426.
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Bano S,
Nawaz A,
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Zahid M
J Coll Physicians Surg Pak
2024 Feb;34(2):187-192.
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Thomas HB,
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Pingault V,
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Hum Mutat
2020 Aug;41(8):1372-1382.
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Cohen N,
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Am J Med Genet A
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