Lv1
38 积分 2023-10-17 加入
A novel dominant-negative variant of IRF8 in a mother and son: Clinical, phenotypic and biological characteristics
3天前
已完结
[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI]
2个月前
已完结
Molecular analysis and novel variation identification of Chinese pedigrees with mucopolysaccharidosis using targeted next-generation sequencing
2个月前
已完结
Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients
4个月前
已完结
Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital
4个月前
已完结
Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants
5个月前
已完结
Decreased Imiquimod-Induced Psoriasis-Like Skin Inflammation in a Novel MvdF250S/+ Knock-In Mouse Model
5个月前
已完结
[Genetic variant analysis and prenatal diagnosis for Chinese pedigrees affected with cblC methylmalonic acidemia]
6个月前
已完结
[Analysis of clinical phenotype and CGH1 gene mutations in a family affected with dopa-responsive dystonia]
6个月前
已完结
[Analysis of clinical phenotype and CGH1 gene mutations in a family affected with dopa-responsive dystonia]
6个月前
已关闭
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