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10 积分 2025-11-27 加入
A novel KCTD17 mutation in a Chinese family associated with myoclonus dystonia
17小时前
求助中
Genetic and clinical characteristics of primary hemophagocytic lymphohistiocytosis in children
2天前
已完结
[Gene screening and phenotype analysis in a pedigree with familial hypertrophic cardiomyopathy from Yunnan Province]
3天前
已完结
Screening of 1.17 million newborns for inborn errors of metabolism using tandem mass spectrometry in Shanghai, China: A 19-year report
4天前
已完结
[Analysis of a Chinese pedigree with Hereditary coagulation factor Ⅻ deficiency due to compound heterozygous variants of Ⅻ gene]
9天前
已完结
Genetic analysis of a pedigree with hereditary coagulation factor XII deficiency
9天前
已完结
Clinical, Hormonal, and Genetic Characteristics of 5α-Reductase Type 2 Deficiency in 103 Chinese Patients
13天前
已完结
Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects
14天前
已完结
Spectrum of HBB gene mutations among 696 β–thalassemia patients and carriers in Southern Vietnam
14天前
已完结
Genetic Causes of Hereditary Myopathies in a Cohort of Male Patients: Molecular Diagnosis in Myopathies
22天前
已完结
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