Lv2
136 积分 2024-08-06 加入
Dystrophic epidermolysis bullosa pruriginosa: a new case series of a rare phenotype unveils skewed Th2 immunity
1天前
待确认
Phenotypic Spectrum and Long-term Outcome in Children With Genetic Causes of Early-onset Epileptic Encephalopathy
2天前
已完结
Compound Heterozygous Familial Hypercholesterolemia and Familial Defective Apolipoprotein B-100 Produce Exaggerated Hypercholesterolemia
6天前
已完结
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
8天前
已完结
Screening for TUBA4A mutations in a large Chinese cohort of patients with ALS: re-evaluating the pathogenesis of TUBA4A in ALS
1个月前
已关闭
The exploration of genetic aetiology and diagnostic strategy for 321 Chinese individuals with intellectual disability
1个月前
已完结
Congenital leptin and leptin receptor deficiencies in nine new families: identification of six novel variants and review of literature
1个月前
已完结
Palmoplantar keratoderma: a new phenotype in patients with hypotrichosis resulted from lanosterol synthase gene mutations
1个月前
已完结
Dystrophic epidermolysis bullosa pruriginosa: a new case series of a rare phenotype unveils skewed Th2 immunity
1个月前
已完结
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