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50 积分 2025-07-28 加入
Hereditary coproporphyria: exon screening by heteroduplex analysis detects three novel mutations in the coproporphyrinogen oxidase gene
13小时前
已关闭
Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types
5天前
已完结
Genetic basis of human complement C8 alpha-gamma deficiency
11天前
已关闭
The genetic spectrum of a Chinese series of patients with 46, XY disorders of the sex development
14天前
已完结
Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients
24天前
已完结
Deep palmar phenotyping in atopic eczema: patterns associated with filaggrin variants, disease severity and barrier function in a South Asian population
4个月前
已完结
Enterokinase deficiency with novel TMPRSS15 gene mutation masquerading as acrodermatitis enteropathica
5个月前
已完结
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)
6个月前
已完结
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