Lv24
188 积分 2025-08-06 加入
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT
12分钟前
已完结
Consecutive medical exome analysis at a tertiary center: Diagnostic and health‐economic outcomes
5小时前
已完结
KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of β-thalassemia
1天前
已关闭
[Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type Ⅱ]
4天前
已完结
Molecular characterization of a series of 990 index patients with albinism
4天前
已完结
Incidental magnetic resonance imaging findings leading to an unusual diagnosis: Adult onset Krabbe disease
5天前
已完结
Newborn screening for Krabbe disease in New York State: the first eight years’ experience
5天前
已完结
Characterization of a new variant of ?1-antitrypsin EJohannesburg (H15N) in association with asthma
7天前
已完结
Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis
8天前
已完结
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