Lv1
54 积分 2020-12-07 加入
Analysis of MYO15A variation in children with DFNB3
12天前
已完结
Genetic and clinical spectrum of steroid-resistant nephrotic syndrome with nuclear pore gene mutation
12天前
已完结
[FXI gene mutations in two pedigrees of congenital clotting factor XI deficiency]
19天前
已关闭
[ZRS mutations in two Chinese Han families featuring triphalangeal thumbs and preaxial polydactyly]
1个月前
已完结
[Newborn screening and variant analysis for methionine adenosyltransferase I/III deficiency]
1个月前
已完结
[Clinical evaluation of a melting curve analysis-based PCR assay for glucose phosphate dehydrogenase gene mutation detection]
2个月前
已完结
Clinical and Molecular Heterogeneity of Silver-Russell Syndrome andTherapeutic Challenges: A Systematic Review
3个月前
已完结
Uniparental disomy: Origin, frequency, and clinical significance
3个月前
已完结
Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies
3个月前
已完结
Four pedigrees with aminoacyl-tRNA synthetase abnormalities
3个月前
已完结