Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation‐negative patient with clinically diagnosed Alagille syndrome

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 4, 2015-04 ,pp. : 891-893

John Wiley & Sons Inc

Access to resources Recommend Favorite

Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome

By Doné S.C.  

Human Molecular Genetics, Vol. 10, Iss. 23, 2001-11 ,pp. : 2637-2644

Oxford University Press

Access to resources Recommend Favorite

Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1

By d’Addio Marilena  

Human Molecular Genetics, Vol. 9, Iss. 20, 2000-12 ,pp. : 3011-3018

Oxford University Press

Access to resources Recommend Favorite

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

Access to resources Recommend Favorite

Two frequent missense mutations in Pendred syndrome

By Dietrich N.L.  

Human Molecular Genetics, Vol. 7, Iss. 7, 1998-07 ,pp. : 1099-1104

Oxford University Press

Access to resources Recommend Favorite