Results 131 to 132 of about 520 (132)

P.281 - A novel copy number variation detection array for the diagnostics of neuromuscular disorders

, 2017
L. Sagath, V. Lehtokari, C. Wallgren‐Pettersson, K. Pelin, K. Kiiski   +4 more
semanticscholar   +1 more source

Compound heterozygous RYR1 mutations by whole exome sequencing in a family with three repeated affected fetuses with fetal akinesia

European Journal of Obstetrics, Gynecology and Reproductive Biology, 2018
Nobuhiro Suzumori, Hidehito Inagaki, Hiroki Kurahashi   +2 more
exaly