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100 积分 2025-05-17 加入
SEGA‐like circumscribed astrocytoma in a non‐NF1 patient, harboring molecular profile of GBM. A case report
3个月前
已完结
Clinical profile and genetic basis of Brugada syndrome in the Chinese population
3个月前
已关闭
[The role of molecular biology in the diagnosis and treatment of cardiovascular diseases]
3个月前
已关闭
Improved detection, via ISO-DALT two-dimensional electrophoresis, of "low Z expressor" individuals with alpha 1-antitrypsin MZ phenotype
3个月前
已完结
Considerations for liver transplantation in deoxyguanosine kinase deficiency: A case series and review of the literature
3个月前
已完结
Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions
3个月前
已完结
Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions
3个月前
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
4个月前
已完结
X-linked congenital adrenal hypoplasia: new mutations and long-term follow-up in three patients
4个月前
已关闭
Spectrum of ARSA mutations in Iranian patients with metachromatic leukodystrophy
4个月前
已关闭