Lv42
460 积分 2025-01-07 加入
Clinical, neuroimaging and genetic findings in Brazilian patients with neurodegeneration with brain iron accumulation
1小时前
待确认
[Genetic variant analysis and prenatal diagnosis for Chinese pedigrees affected with cblC methylmalonic acidemia]
1天前
已完结
Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex
3天前
已完结
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France
5天前
已完结
Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene
5天前
已完结
Comparative analysis of inherited metabolic diseases in normal newborns and high-risk children: Insights from a 10-year study in Shanghai
7天前
已完结
A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection
11天前
已关闭
Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene
13天前
已关闭
Newborn screening and genetic features of patients with hyperphenylalaninemia in a southern Chinese population
14天前
已完结
Expanding the spectrum of genetic causes of DNA-specific exonuclease TREX1 variants in thrombotic microangiopathy
14天前
已完结
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