A Locus for Autosomal Dominant Posterior Polar Cataract on Chromosome 1p

By Ionides Alexander C. W.   Berry Vanita   Mackay Donna S.   Moore Anthony T.   Bhattacharya Shomi S.   Shiels Alan  

Human Molecular Genetics, Vol. 6, Iss. 1, 1997-01 ,pp. : 47-51

Oxford University Press

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Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa

By Bowne Sara J.   Daiger Stephen P.   Hims Matthew M.  

Human Molecular Genetics, Vol. 8, Iss. 11, 1999-10 ,pp. : 2121-2128

Oxford University Press

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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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OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance

By Pesch U.E.A.  

Human Molecular Genetics, Vol. 10, Iss. 13, 2001-06 ,pp. : 1359-1368

Oxford University Press

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Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1

By Gurnett Christina A.   Desruisseau David M.   McCall Kevin   Choi Ryan   Meyer Zachary I.   Talerico Michael   Miller Sara E.   Ju Jeong-Sun   Pestronk Alan   Connolly Anne M.   Druley Todd E.   Weihl Conrad C.   Dobbs Mathew B.  

Human Molecular Genetics, Vol. 19, Iss. 7, 2010-04 ,pp. : 1165-1173

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