Results 281 to 290 of about 176,215 (308)

A missense mutation associated with schizophrenia

Trends in Genetics, 2001
Schizophrenia is a complex heterogeneous syndrome, involving both environmental and genetic factors. Although a familial subtype of catatonic schizophrenia is transmitted in an autosomal dominant manner, the gene responsible has eluded scientists. Recently, however, a German group led by K.P.
openaire   +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

Missense Mutation

2008
  +4 more sources

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

Biomedicines, 2022
Antonino Musumeci, Francesco Cali, Girolamo Aurelio Vitello   +2 more
exaly  

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

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

Comparison of the effects of a truncating and a missense MYBPC3 mutation on contractile parameters of engineered heart tissue

Journal of Molecular and Cellular Cardiology, 2016
Paul J M Wijnker, Felix W Friedrich, Alexandra Eder   +2 more
exaly  

Characterization of the P373L E-cadherin germline missense mutation and implication for clinical management

European Journal of Surgical Oncology, 2007
Giovanni Corso, F Roviello, Joana Paredes   +2 more
exaly  

The missense p.Trp7Arg mutation in GRN gene leads to progranulin haploinsufficiency

Neurobiology of Aging, 2020
Dario Saracino, Leila Sellami, Fabienne Clot   +2 more
exaly