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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Mutations in the Wolfram syndrome 1 gene ( WFS1 ) are a common cause of low frequency sensorineural hearing loss

By Kurnool P.  

Human Molecular Genetics, Vol. 10, Iss. 22, 2001-10 ,pp. : 2501-2508

Oxford University Press

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New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome

By Cox Timothy C.  

Human Molecular Genetics, Vol. 9, Iss. 17, 2000-10 ,pp. : 2553-2562

Oxford University Press

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Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F

By Bernier F.P.  

Human Molecular Genetics, Vol. 10, Iss. 16, 2001-08 ,pp. : 1709-1718

Oxford University Press

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Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome

By Maruo Yoshihiro   D′ Addario Carlos   Mori Asami   Iwai Masaru   Takahashi Hiroko   Sato Hiroshi   Takeuchi Yoshihiro  

Human Genetics, Vol. 115, Iss. 6, 2004-11 ,pp. : 525-526

Springer Publishing Company

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