Lv33
220 积分 2023-12-27 加入
[A novel keratin 17 gene mutation in a Chinese pedigree of delayed-onset pachyonychia congenita type II]
26天前
已关闭
Spectrum and frequencies of extraocular features reported in CEP290-associated ciliopathy - A systematic review
1个月前
已关闭
Deep palmar phenotyping in atopic eczema: patterns associated with filaggrin variants, disease severity and barrier function in a South Asian population
5个月前
已完结
Prolonged diagnostic journey in delayed-onset adenosine deaminase deficiency
5个月前
已完结
Severe Combined Immunodeficiency (SCID) Screening in Arizona: Lessons Learned from the First 2 Years
5个月前
已完结
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene
5个月前
已关闭
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis
5个月前
已关闭
Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria
5个月前
已完结
Systematically analyzing rare variants of autosomal-dominant genes for sporadic Parkinson's disease in a Chinese cohort
5个月前
已完结
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