Results 151 to 160 of about 12,812 (160)

Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous R486C mutation in CYP7B1 (SPG5)

Stem Cell Research, 2016
Rebecca Schüle, Ludger Schöls, Stefan Hauser   +2 more
exaly  

R482L Mutation of the LMNA Gene Affects Dynamics of C2C12 Myogenic Differentiation and Stimulates Formation of Intramuscular Lipid Droplets

Biochemistry (Moscow), 2019
exaly  

Purification and Properties of a Novel Enzyme, Trehalose Synthase, fromPimelobactersp. R48

Bioscience, Biotechnology and Biochemistry, 1996
exaly  

Aromatic nitrogen mustards in the reticuloses with special reference to R48 [di(2-chloroethyl)-beta-naphthylamine].

The British journal of radiology, 2004
openaire   +1 more source

Susceptibility to pre-eclampsia in Finnish women is associated with R485K polymorphism in the factor V gene, not with Leiden mutation

European Journal of Human Genetics, 2003
exaly  

A Humanized and Viable Animal Model for Congenital Adrenal Hyperplasia–CYP21A2-R484Q Mutant Mouse

International Journal of Molecular Sciences
Katrin Koehler, Angela Huebner, Nicole Reisch   +2 more
exaly  

Evidence for an Association of the R485K Polymorphism in the Coagulation Factor V Gene with Severe Preeclampsia from Screening 35 Polymorphisms in 27 Candidate Genes

Thrombosis and Haemostasis, 2001
exaly  

LMNA R482L mutation causes impairments in C2C12 myoblasts subpopulations, alterations in metabolic reprogramming during differentiation, and oxidative stress

Scientific Reports
Oksana A Ivanova, Alexander V Predeus, Renata I Dmitrieva   +2 more
exaly  

Central core disease mutations R4892W, I4897T and G4898E in the ryanodine receptor isoform 1 reduce the Ca2+ sensitivity and amplitude of Ca2+-dependent Ca2+ release

Biochemical Journal, 2004
exaly  

Valosin-containing-protein pathogenic variant p.R487H in Parkinson’s disease

Clinical Parkinsonism & Related Disorders
Wolfdieter Springer, Zhiyv Niu, Rodolfo Savica   +2 more
exaly