Lv1
24 积分 2025-04-29 加入
[Analysis of clinical phenotypes and ATP7B gene variants in 75 children patients with Wilson' s disease]
4天前
已完结
Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges
1个月前
已完结
Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy
1个月前
已完结
[Analysis of P gene variations among fourteen patients with oculocutaneous albinism type II]
2个月前
已完结
[Identification of novel common mutations among patients with non-syndromic hearing loss with high-throughput gene capture technology]
3个月前
已完结
Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma
3个月前
已完结
Congenital neuromuscular variant of glycogen storage disease type IV presenting as hypertrophic cardiomyopathy
3个月前
已完结
Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis
3个月前
已完结
[Mutation analysis of FLG gene in 10 Chinese families with ichthyosis vulgaris]
5个月前
已完结
Mutations in the filaggrin gene in Han Chinese patients with atopic dermatitis
5个月前
已完结
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