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80 积分 2025-06-04 加入
The treatment and clinical follow-up outcome in Iranian patients with tetrahydrobiopterin deficiency
11小时前
待确认
Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification
6个月前
已关闭
Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification
6个月前
已完结
Persistent hypercholesterolemia in child with homozygous autosomal recessive hypercholesterolemia: A decade of lipid management
9个月前
已关闭
Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II
1年前
已完结
[An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals]
1年前
已关闭