Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders

By Clark Alice R.   Sawyer Gregory M.   Robertson Stephen P.   Sutherland-Smith Andrew J.  

Human Molecular Genetics, Vol. 18, Iss. 24, 2009-12 ,pp. : 4791-4800

Oxford University Press

Access to resources Recommend Favorite

ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous

By Prasov Lev   Masud Tehmina   Khaliq Shagufta   Mehdi S. Qasim   Abid Aiysha   Oliver Edward R.   Silva Eduardo D.   Lewanda Amy   Brodsky Michael C.   Borchert Mark   Kelberman Daniel   Sowden Jane C.   Dattani Mehul T.   Glaser Tom  

Human Molecular Genetics, Vol. 21, Iss. 16, 2012-08 ,pp. : 3681-3694

Oxford University Press

Access to resources Recommend Favorite

PTHR1 mutations associated with Ollier disease result in receptor loss of function

By Couvineau Alain   Wouters Vinciane   Bertrand Guylne   Rouyer Christiane   Grard Bndicte   Boon Laurence M.   Grandchamp Bernard   Vikkula Miikka   Silve Caroline  

Human Molecular Genetics, Vol. 17, Iss. 18, 2008-09 ,pp. : 2766-2775

Oxford University Press

Access to resources Recommend Favorite

Characterization of recessive RYR1 mutations in core myopathies

By Zhou Haiyan   Yamaguchi Naohiro   Wang Ying   Sewry Caroline   Jungbluth Heinz   Zorzato Francesco   Bertini Enrico   Muntoni Francesco   Meissner Gerhard   Treves Susan  

Human Molecular Genetics, Vol. 15, Iss. 18, 2006-09 ,pp. : 2791-2803

Oxford University Press

Access to resources Recommend Favorite

Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families

By  

Molecular Genetics & Genomic Medicine, Vol. 4, Iss. 3, 2016-05 ,pp. : 303-311

John Wiley & Sons Inc

Access to resources Recommend Favorite