Paternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria‐congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalities

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American Journal Of Medical Genetics Part A, Vol. 155, Iss. 10, 2011-10 ,pp. : 2601-2604

John Wiley & Sons Inc

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Ku70 regulates Bax-mediated pathogenesis in laminin-2-deficient human muscle cells and mouse models of congenital muscular dystrophy

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Human Molecular Genetics, Vol. 18, Iss. 23, 2009-12 ,pp. : 4467-4477

Oxford University Press

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Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation

By Paesold-Burda Patricie   Maag Charlotte   Troxler Heinz   Foulquier Franois   Kleinert Peter   Schnabel Siegrun   Baumgartner Matthias   Hennet Thierry  

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Oxford University Press

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COG8 deficiency causes new congenital disorder of glycosylation type IIh

By Kranz Christian   Ng Bobby G.   Sharma Vandana   Eklund Erik A.   Miura Yoshiaki   Ungar Daniel   Lupashin Vladimir   Winkel R. Dennis   Cipollo John F.   Costello Catherine E.   Loh Eva   Hong Wanjin   Freeze Hudson H.  

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Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndrome

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Human Molecular Genetics, Vol. 13, Iss. 14, 2004-07 ,pp. : 1433-1439

Oxford University Press

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