Results 311 to 320 of about 1,702,970 (343)

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

Nature, 1991
A. Goate, M. Chartier-Harlin, M. Mullan, Jeremy S. Brown, F. Crawford, L. Fidani, L. Giuffra, A. Haynes, N. Irving, L. James, R. Mant, P. Newton, K. Rooke, P. Roques, C. Talbot, M. Pericak-Vance, A. Roses, R. Williamson, M. Rossor, M. Owen, J. Hardy   +20 more
semanticscholar   +1 more source

Missense Mutation

2008
  +4 more sources

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

Nature, 1991
H. Dietz, Carry R. Cutting, R. Pyeritz, C. Maslen, L. Sakai, G. Corson, E. Puffenberger, A. Hamosh, E. Nanthakumar, S. Curristin, G. Stetten, D. Meyers, C. Francomano   +12 more
semanticscholar   +1 more source

Missense mutation in the choroideremia gene

Human Molecular Genetics, 1994
P, Donnelly, H, Menet, C, Fouanon, O, Herbert, J P, Moisan, M G, Le Roux, O, Pascal   +6 more
openaire   +2 more sources

Report of a patient with a constitutional missense mutation in SMARCB1, Coffin–Siris phenotype, and schwannomatosis

American Journal of Medical Genetics. Part A, 2015
N. Gossai, J. Biegel, L. Messiaen, S. Berry, C. Moertel   +4 more
semanticscholar   +1 more source

Missense Mutation

2011
openaire   +2 more sources

Statistical Analysis of Missense Mutation Classifiers

Human Mutation, 2012
Stephanie, Hicks, Sharon E, Plon, Marek, Kimmel   +2 more
openaire   +2 more sources

A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation.

Cell, 1990
A. Geisterfer-Lowrance, S. Kass, G. Tanigawa, H. Vosberg, W. McKenna, C. Seidman, J. Seidman   +6 more
semanticscholar   +1 more source

Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy

Biomedicines, 2022
Antonino Musumeci, Francesco Cali, Mirella Vinci   +2 more
exaly  

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