Lv12
10 积分 2025-11-27 加入
[Gene screening and phenotype analysis in a pedigree with familial hypertrophic cardiomyopathy from Yunnan Province]
5小时前
待确认
Screening of 1.17 million newborns for inborn errors of metabolism using tandem mass spectrometry in Shanghai, China: A 19-year report
1天前
已完结
[Analysis of a Chinese pedigree with Hereditary coagulation factor Ⅻ deficiency due to compound heterozygous variants of Ⅻ gene]
6天前
已完结
Genetic analysis of a pedigree with hereditary coagulation factor XII deficiency
6天前
已完结
Clinical, Hormonal, and Genetic Characteristics of 5α-Reductase Type 2 Deficiency in 103 Chinese Patients
10天前
已完结
Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects
11天前
已完结
Spectrum of HBB gene mutations among 696 β–thalassemia patients and carriers in Southern Vietnam
11天前
已完结
Genetic Causes of Hereditary Myopathies in a Cohort of Male Patients: Molecular Diagnosis in Myopathies
19天前
已完结
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
22天前
已完结
Dual Oxidase System Genes Defects in Children With Congenital Hypothyroidism
22天前
已完结
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