Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

By Winkelmann Juliane   Lin Ling   Schormair Barbara   Kornum Birgitte R.   Faraco Juliette   Plazzi Giuseppe   Melberg Atle   Cornelio Ferdinando   Urban Alexander E.   Pizza Fabio   Poli Francesca   Grubert Fabian   Wieland Thomas   Graf Elisabeth   Hallmayer Joachim   Strom Tim M.   Mignot Emmanuel  

Human Molecular Genetics, Vol. 21, Iss. 10, 2012-05 ,pp. : 2205-2210

Oxford University Press

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Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus

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Human Molecular Genetics, Vol. 10, Iss. 3, 2001-02 ,pp. : 195-200

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Point mutations in the melanocortin-4 receptor cause variable obesity in mice

By Meehan Thomas   Tabeta Koichi   Du Xin   Woodward Lanette   Firozi Karen   Beutler Bruce   Justice Monica  

Mammalian Genome, Vol. 17, Iss. 12, 2006-12 ,pp. : 1162-1171

Springer Publishing Company

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Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans

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Human Molecular Genetics, Vol. 14, Iss. 1, 2005-01 ,pp. : 103-111

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Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.

By Thönnissen Eva   Rabionet Raquel   Arbonès Maria   Estivill Xavier   Willecke Klaus   Ott Thomas  

Human Genetics, Vol. 111, Iss. 2, 2002-08 ,pp. : 190-197

Springer Publishing Company

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