Lv1
14 积分 2024-11-26 加入
Molecular Heterogeneity of Osteopetrosis in India: Report of 17 Novel Variants
5小时前
待确认
[Clinical and ASS1 gene variant analysis of three Chinese pedigrees affected with Citrullinemia type I]
2个月前
已完结
Phenotypic variability in LAMA3‐associated amelogenesis imperfecta
2个月前
已完结
Digenic inheritance accounts for phenotypic variability in amelogenesis imperfecta
2个月前
已完结
Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes
2个月前
已完结
Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability
4个月前
已完结
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application
5个月前
已完结
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