Lv11
4 积分 2024-11-26 加入
Reassessing the significance of the PAH c.158G>A (p.Arg53His) variant in patients with hyperphenylalaninemia
2小时前
待确认
The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population
2小时前
已完结
Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China
2个月前
已完结
New insights intoCC2D2A-related Joubert syndrome
3个月前
已完结
Molecular Heterogeneity of Osteopetrosis in India: Report of 17 Novel Variants
4个月前
已完结
[Clinical and ASS1 gene variant analysis of three Chinese pedigrees affected with Citrullinemia type I]
6个月前
已完结
Phenotypic variability in LAMA3‐associated amelogenesis imperfecta
6个月前
已完结
Digenic inheritance accounts for phenotypic variability in amelogenesis imperfecta
6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
6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
8个月前
已完结
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