Results 321 to 330 of about 1,703,111 (346)

PAX6 missense mutation in isolated foveal hypoplasia

Nature Genetics, 1996
N, Azuma, S, Nishina, H, Yanagisawa, T, Okuyama, M, Yamada   +4 more
openaire   +2 more sources

Two missense mutations in

Animal Genetics, 2014
D. I. V�ge, M. Nieminen, D. G. Anderson, K. H. R�ed   +3 more
openaire   +1 more source

Leptin receptor missense mutation in the fatty Zucker rat

Nature Genetics, 1996
M. Phillips, Qingyun Liu, Holly A. Hammond, Valarie Dugan, P. Hey, C. Caskey, J. Hess   +6 more
semanticscholar   +1 more source

Missense Mutation

2009
openaire   +1 more source

A molecular basis for familial hypertrophic cardiomyopathy: A β cardiac myosin heavy chain gene missense mutation

Cell, 1990
Christine E Seidman
exaly  

Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes.

Arthritis & Rheumatism, 2011
I. Jéru, G. Le Borgne, E. Cochet, H. Hayrapetyan, P. Duquesnoy, G. Grateau, A. Morali, T. Sarkisian, S. Amselem   +8 more
semanticscholar   +1 more source

A method and server for predicting damaging missense mutations

Nature Methods, 2010
Steffen Schmidt, Leonid Peshkin, Anna Gerasimova   +2 more
exaly  

Mutation, Missense

2001
openaire   +1 more source

Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene

Nature, 1995
Peter H St George-Hyslop
exaly  

Characteristics and Prognostic Implications of Myosin Missense Mutations in Familial Hypertrophic Cardiomyopathy

New England Journal of Medicine, 1992
Hugh Christian Watkins, Anthony Rosenzweig, William John McKenna   +2 more
exaly