Lv42
510 积分 2025-01-12 加入
Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population
30分钟前
待确认
Hyperphenylalaninemia in the Czech Republic: Genotype-phenotype correlations and in silico analysis of novel missense mutations
11小时前
待确认
Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study
12小时前
待确认
Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population
14小时前
待确认
The pathogenicity classification of PAH gene variants in the Iranian population
20小时前
待确认
EIF2AK4 Mutations in Patients Diagnosed With Pulmonary Arterial Hypertension
2天前
已关闭
EIF2AK4 Mutations in Patients Diagnosed With Pulmonary Arterial Hypertension
5天前
已完结
A Novel Heterozygous c.1024A>G Variant in BMPR1B Causes Either Isolated Brachydactyly Type A4 With Variable Expressivity or Incomplete Type A4 Overlapping Type D in a Chinese Han Pedigree
6天前
已完结
The features of rare pathogenic BMPR2 variants in pulmonary arterial hypertension: Comparison between patients and reference population
7天前
已完结
Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population
9天前
已完结
皖公网安备34019202002308
