ATM phosphorylation of CD98HC increases antiporter membrane localization and prevents chronic toxic glutamate accumulation in Ataxia telangiectasia
View of healthcare professionals on ultra-rapid genome sequencing and its implementation in clinical routine for critically ill children
16p13.3 homologous sequences underlie microdeletions encompassing TBC1D24 and ATP6V0C
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases
Association of birth weight, childhood obesity, and age at menarche with ovarian function: an integrated Mendelian randomization study and bioinformatics analysis
Unveiling pathogenic and non-pathogenic FGF14 repeat expansions: identification, sequence, and secondary structure
Three-Dimensional Measurement of Face as a Novel Distinguishing Tool in Facioscapulohumeral Muscular Dystrophy
Unexpected identification of obesity-associated mutations in LEP and MC4R genes in patients with anorexia nervosa
Gene Expression Associated with Unfavorable Vaginal Bleeding in Women Using the Etonogestrel Subdermal Contraceptive Implant: A Prospective Study
Clinical heterogeneity of epilepsy and mutation spectrum of voltage-gated sodium channel genes