A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next‐generation sequencing causes CK syndrome

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American Journal Of Medical Genetics Part A, Vol. 167, Iss. 6, 2015-06 ,pp. : 1342-1348

John Wiley & Sons Inc

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Deep intronic mutation in OFD1 , identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

By Webb Tom R.   Parfitt David A.   Gardner Jessica C.   Martinez Ariadna   Bevilacqua Dalila   Davidson Alice E.   Zito Ilaria   Thiselton Dawn L.   Ressa Jacob H.C.   Apergi Marina   Schwarz Nele   Kanuga Naheed   Michaelides Michel   Cheetham Michael E.   Gorin Michael B.   Hardcastle Alison J.  

Human Molecular Genetics, Vol. 21, Iss. 16, 2012-08 ,pp. : 3647-3654

Oxford University Press

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A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus

By Guillonneau Xavier  

Human Molecular Genetics, Vol. 8, Iss. 8, 1999-08 ,pp. : 1541-1546

Oxford University Press

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Novel pathogenic variants and genes for myopathies identified by whole exome sequencing

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Molecular Genetics & Genomic Medicine, Vol. 3, Iss. 4, 2015-07 ,pp. : 283-301

John Wiley & Sons Inc

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Patient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing

By Tse Hung-Fat   Ho Jenny C. Y.   Choi Shing-Wan   Lee Yee-Ki   Butler Amy W.   Ng Kwong-Man   Siu Chung-Wah   Simpson Michael A.   Lai Wing-Hon   Chan Yau-Chi   Au Ka-Wing   Zhang Jinqiu   Lay Kenneth W. J.   Esteban Miguel A.   Nicholls John M.   Colman Alan   Sham Pak C.  

Human Molecular Genetics, Vol. 22, Iss. 7, 2013-04 ,pp. : 1395-1403

Oxford University Press

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