Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation

By Winokur Sara T.  

Human Molecular Genetics, Vol. 12, Iss. 22, 2003-11 ,pp. : 2895-2907

Oxford University Press

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Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome

By Bothwell Susan  

Mammalian Genome, Vol. 21, Iss. 9-10, 2010-10 ,pp. : 458-466

Springer Publishing Company

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Disease-associated intronic variants in the ErbB4 gene are related to altered ErbB4 splice-variant expression in the brain in schizophrenia

By Law Amanda J.   Kleinman Joel E.   Weinberger Daniel R.   Weickert Cynthia Shannon  

Human Molecular Genetics, Vol. 16, Iss. 2, 2007-01 ,pp. : 129-141

Oxford University Press

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A direct gene transfer strategy via brain internal capsule reverses the biochemical defect in Tay–Sachs disease

By Martino S.  

Human Molecular Genetics, Vol. 14, Iss. 15, 2005-08 ,pp. : 2113-2123

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A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure

By Bernascone Ilenia   Janas Sylvie   Ikehata Masami   Trudu Matteo   Corbelli Alessandro   Schaeffer Cline   Rastaldi Maria Pia   Devuyst Olivier   Rampoldi Luca  

Human Molecular Genetics, Vol. 19, Iss. 15, 2010-08 ,pp. : 2998-3010

Oxford University Press

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