Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome

By Reeuwijk Jeroen   Grewal Prabhjit   Salih Mustafa   Beltrán-Valero de Bernabé Daniel   McLaughlan Jenny   Michielse Caroline   Herrmann Ralf   Hewitt Jane   Steinbrecher Alice   Seidahmed Mohamed   Shaheed Mohamed   Abomelha Abdullah   Brunner Han   Bokhoven Hans   Voit Thomas  

Human Genetics, Vol. 121, Iss. 6, 2007-07 ,pp. : 685-690

Springer Publishing Company

Access to resources Recommend Favorite

Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome

By Morrissette J.J.D.   Colliton R.P.   Spinner N.B.  

Human Molecular Genetics, Vol. 10, Iss. 4, 2001-02 ,pp. : 405-413

Oxford University Press

Access to resources Recommend Favorite

Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms

By Pymar Louis S.   Platt Fiona M.   Askham Jon M.   Morrison Ewan E.   Knowles Margaret A.  

Human Molecular Genetics, Vol. 17, Iss. 13, 2008-07 ,pp. : 2006-2017

Oxford University Press

Access to resources Recommend Favorite

Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 7, 2015-07 ,pp. : 1501-1509

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