Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome

By Kalff-Suske Martha   Wild Anja   Topp Juliane   Wessling Martina   Jacobsen Eva-Maria   Bornholdt Dorothea   Engel Hartmut   Heuer Heike   Aalfs Cora M.  

Human Molecular Genetics, Vol. 8, Iss. 9, 1999-09 ,pp. : 1769-1777

Oxford University Press

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Missense mutations in β-1,3- N -acetylglucosaminyltransferase 1 ( B3GNT1 ) cause Walker-Warburg syndrome

By Buysse Karen   Riemersma Moniek   Powell Gareth   van Reeuwijk Jeroen   Chitayat David   Roscioli Tony   Kamsteeg Erik-Jan   van den Elzen Christa   van Beusekom Ellen   Blaser Susan   Babul-Hirji Riyana   Halliday William   Wright Gavin J.   Stemple Derek L.   Lin Yung-Yao   Lefeber Dirk J.   van Bokhoven Hans  

Human Molecular Genetics, Vol. 22, Iss. 9, 2013-05 ,pp. : 1746-1754

Oxford University Press

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DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes

By Belohradsky B.H.  

Human Molecular Genetics, Vol. 10, Iss. 25, 2001-12 ,pp. : 2917-2931

Oxford University Press

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Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency

By Nyhan W.L.  

Human Molecular Genetics, Vol. 10, Iss. 12, 2001-06 ,pp. : 1299-1306

Oxford University Press

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Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration

By Jacobson Samuel G.  

Human Molecular Genetics, Vol. 13, Iss. 17, 2004-09 ,pp. : 1893-1902

Oxford University Press

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