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80 积分 2025-05-17 加入
[The role of molecular biology in the diagnosis and treatment of cardiovascular diseases]
5天前
已关闭
Improved detection, via ISO-DALT two-dimensional electrophoresis, of "low Z expressor" individuals with alpha 1-antitrypsin MZ phenotype
7天前
已完结
Considerations for liver transplantation in deoxyguanosine kinase deficiency: A case series and review of the literature
7天前
已完结
Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions
17天前
已完结
Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions
17天前
已关闭
Primary adrenal insufficiency and hypogonadotropic hypogonadism associated with NR0B1 (DAX1) gene nonsense mutation (p.Gln155*) in a patient with empty sellae syndrome
1个月前
已完结
X-linked congenital adrenal hypoplasia: new mutations and long-term follow-up in three patients
1个月前
已关闭
Spectrum of ARSA mutations in Iranian patients with metachromatic leukodystrophy
1个月前
已关闭
One Train May Hide Another: Two Cases of Co-Occurring Primary Familial Brain Calcification and Alzheimer's Disease
1个月前
已完结
[Genetic analysis of a Chinese pedigree affected with branchiootic syndrome due to a nonsense variant of EYA1 gene]
2个月前
已完结
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