Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese

By Fukuoka Hisakuni   Kanda Yukihiko   Ohta Shuji   Usami Shin-ichi  

Journal of Human Genetics, Vol. 52, Iss. 6, 2007-06 ,pp. : 510-515

Springer Publishing Company

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Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy

By Mautner V-F.  

Human Molecular Genetics, Vol. 11, Iss. 9, 2002-05 ,pp. : 1119-1128

Oxford University Press

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Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa

By Bowne S.J.  

Human Molecular Genetics, Vol. 11, Iss. 5, 2002-03 ,pp. : 559-568

Oxford University Press

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The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly

By Nanni Luisa  

Human Molecular Genetics, Vol. 8, Iss. 13, 1999-12 ,pp. : 2479-2488

Oxford University Press

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Nonsense mutations in FZD2 cause autosomal‐dominant omodysplasia: Robinow syndrome‐like phenotypes

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American Journal Of Medical Genetics Part A, Vol. 176, Iss. 3, 2018-03 ,pp. : 739-742

John Wiley & Sons Inc

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