Lv1
24 积分 2025-04-29 加入
[Analysis of P gene variations among fourteen patients with oculocutaneous albinism type II]
13小时前
待确认
[Identification of novel common mutations among patients with non-syndromic hearing loss with high-throughput gene capture technology]
1个月前
已完结
Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma
1个月前
已完结
Congenital neuromuscular variant of glycogen storage disease type IV presenting as hypertrophic cardiomyopathy
1个月前
已完结
Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis
1个月前
已完结
[Mutation analysis of FLG gene in 10 Chinese families with ichthyosis vulgaris]
3个月前
已完结
Mutations in the filaggrin gene in Han Chinese patients with atopic dermatitis
3个月前
已完结
Spectrum of neuro‐genetic disorders in the United Arab Emirates national population
3个月前
已完结
Phenotypic and genotypic characterization of two factor VII deficiency patients from southeastern China
3个月前
已完结
Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation
3个月前
已完结
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