Transcription profiling of inner ears from Pou4f3 ddl/ddl identifies Gfi1 as a target of the Pou4f3 deafness gene

By Hertzano Ronna  

Human Molecular Genetics, Vol. 13, Iss. 18, 2004-09 ,pp. : 2143-2153

Oxford University Press

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Identification of a Hot Spot for Microdeletions in Patients with X-linked Deafness Type 3 (DFN3) 900 kb Proximal to the DFN3 gene POU3F4

By de Kok Yvette J. M.   Vossenaar Erik R.   Cremers Cor W. R. J.   Dahl Niklas   Laporte Jocelyn   Jia Hu Ling   Lacombe Didier   Fischel-Ghodsian Nathan   Friedman Rick A.   Parnes Lorne S.   Thorpe Peter   Bitner-Glindzicz Maria   Pander Hans-Jürgen   Heilbronner Helmut   Graveline Johanna   den Dunnen Johan T.   Brunner Han G.   Ropers Hans-Hilger   Cremers Frans P. M.  

Human Molecular Genetics, Vol. 5, Iss. 9, 1996-01 ,pp. : 1229-1235

Oxford University Press

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A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome

By Petruzzella V.  

Human Molecular Genetics, Vol. 10, Iss. 5, 2001-03 ,pp. : 529-535

Oxford University Press

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Mutation in the splicing factor Hprp3p linked to retinitis pigmentosa impairs interactions within the U4/U6 snRNP complex

By Gonzalez-Santos Juana Maria   Cao Huibi   Duan Rongqi Cathleen   Hu Jim  

Human Molecular Genetics, Vol. 17, Iss. 2, 2008-01 ,pp. : 225-239

Oxford University Press

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Differential expression of sex-linked and autosomal germ-cell-specific genes during spermatogenesis in the mouse

By Wang P. Jeremy  

Human Molecular Genetics, Vol. 14, Iss. 19, 2005-10 ,pp. : 2911-2918

Oxford University Press

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