Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B

By Okumoto K.  

Human Molecular Genetics, Vol. 7, Iss. 9, 1998-09 ,pp. : 1399-1405

Oxford University Press

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SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway

By Cliffe Simon T.   Kramer Jamie M.   Hussain Khalid   Robben Joris H.   de Jong Eiko K.   de Brouwer Arjan P.   Nibbeling Esther   Kamsteeg Erik-Jan   Wong Melanie   Prendiville Julie   James Chela   Padidela Raja   Becknell Charlie   van Bokhoven Hans   Deen Peter M.T.   Hennekam Raoul C.M.   Lindeman Robert   Schenck Annette   Roscioli Tony   Buckley Michael F.  

Human Molecular Genetics, Vol. 18, Iss. 12, 2009-06 ,pp. : 2257-2265

Oxford University Press

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Expression analysis of RSK gene family members: the RSK2 gene, mutated in Coffin–Lowry syndrome, is prominently expressed in brain structures essential for cognitive function and learning

By Zeniou M.  

Human Molecular Genetics, Vol. 11, Iss. 23, 2002-11 ,pp. : 2929-2940

Oxford University Press

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Identification of a New Mutation (L46P) in the Human NOG Gene in an Italian Patient with Symphalangism Syndrome

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Molecular Syndromology, Vol. 3, Iss. 1, 2012-04 ,pp. : 21-24

Karger

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Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humans

By Wen Xiao-Yan  

Human Molecular Genetics, Vol. 12, Iss. 10, 2003-05 ,pp. : 1131-1143

Oxford University Press

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