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Human Molecular Genetics, Vol. 14, Iss. 3, 2005-02 ,pp. : 385-390

Oxford University Press

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Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1

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A Novel AMH Missense Mutation in a Patient with Persistent Müllerian Duct Syndrome

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Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism

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Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1

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