A Novel Nonsense Mutation of the Sedlin Gene in a Family with Spondyloepiphyseal Dysplasia Tarda

By  

Human Heredity, Vol. 54, Iss. 1, 2002-11 ,pp. : 54-56

Karger

Access to resources Recommend Favorite

A Family with Craniofrontonasal Syndrome and a Mutation (p.G151S) in the EFNB1 Gene: Expanding the Phenotype

By  

Molecular Syndromology, Vol. 7, Iss. 1, 2016-03 ,pp. : 32-36

Karger

Access to resources Recommend Favorite

Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome

By Semina E.V.  

Human Molecular Genetics, Vol. 7, Iss. 7, 1998-07 ,pp. : 1113-1117

Oxford University Press

Access to resources Recommend Favorite

A Family with Stickler Syndrome Type 2 Has a Mutation in the COL11A1 Gene Resulting in the Substitution of Glycine 97 by Valine in a1(XI) Collagen

By Richards Allan J.   Yates John R. W.   Williams Rebecca   Payne Stewart J.   Michael Pope F.   Scott John D.   Snead Martin P.  

Human Molecular Genetics, Vol. 5, Iss. 9, 1996-01 ,pp. : 1339-1343

Oxford University Press

Access to resources Recommend Favorite

Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1

By Mee Lisa  

Human Molecular Genetics, Vol. 14, Iss. 11, 2005-06 ,pp. : 1475-1488

Oxford University Press

Access to resources Recommend Favorite