Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13

By Çalşkan Minal   Chong Jessica X.   Uricchio Lawrence   Anderson Rebecca   Chen Peixian   Sougnez Carrie   Garimella Kiran   Gabriel Stacey B.   DePristo Mark A.   Shakir Khalid   Matern Dietrich   Das Soma   Waggoner Darrel   Nicolae Dan L.   Ober Carole  

Human Molecular Genetics, Vol. 20, Iss. 7, 2011-04 ,pp. : 1285-1289

Oxford University Press

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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

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

Oxford University Press

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

By Griffin A.  

Human Molecular Genetics, Vol. 10, Iss. 22, 2001-10 ,pp. : 2509-2514

Oxford University Press

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Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report

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Molecular Syndromology, Vol. 8, Iss. 5, 2017-07 ,pp. : 272-277

Karger

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Exome sequencing of patients with histiocytoid cardiomyopathy reveals a de novo NDUFB11 mutation that plays a role in the pathogenesis of histiocytoid cardiomyopathy

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American Journal Of Medical Genetics Part A, Vol. 167, Iss. 9, 2015-09 ,pp. : 2114-2121

John Wiley & Sons Inc

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