Four Loss of Function Pathogenic Variants in ARHGAP29 in Non-Syndromic Cleft Lip and Palate
Multistep allelic conversion in mouse pre-implantation embryos by AAV vectors
First insight into the whole-genome sequence variations in clarithromycin- resistant Helicobacter pylori clinical isolates in Russia
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.
FAN1-mediated translesion synthesis and POLQ/HELQ-mediated end joining generate interstrand crosslink-induced mutations
Unexpected identification of obesity-associated mutations in LEP and MC4R genes in patients with anorexia nervosa
Inherited defects of piRNA biogenesis cause transposon de-repression, impaired spermatogenesis, and human male infertility
Clinical heterogeneity of epilepsy and mutation spectrum of voltage-gated sodium channel genes
Compound Point Mutation and Chromosomal Microdeletion Involving 1q21.1 Coinciding with ZMIZ1Variant:Newborns with Feeding Difficulties
Characterisation of APOBEC3B-Mediated RNA Editing in Breast Cancer Cells Reveals Regulatory Roles of NEAT1 and MALAT1 lncRNAs