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54 积分 2024-11-26 加入
Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China
1天前
待确认
New insights intoCC2D2A-related Joubert syndrome
1个月前
已完结
Molecular Heterogeneity of Osteopetrosis in India: Report of 17 Novel Variants
1个月前
已完结
[Clinical and ASS1 gene variant analysis of three Chinese pedigrees affected with Citrullinemia type I]
3个月前
已完结
Phenotypic variability in LAMA3‐associated amelogenesis imperfecta
3个月前
已完结
Digenic inheritance accounts for phenotypic variability in amelogenesis imperfecta
3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
4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
6个月前
已完结
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application
7个月前
已完结
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