Lv11
10 积分 2025-11-27 加入
Screening of 1.17 million newborns for inborn errors of metabolism using tandem mass spectrometry in Shanghai, China: A 19-year report
2小时前
已完结
[Analysis of a Chinese pedigree with Hereditary coagulation factor Ⅻ deficiency due to compound heterozygous variants of Ⅻ gene]
5天前
已完结
Genetic analysis of a pedigree with hereditary coagulation factor XII deficiency
5天前
已完结
Clinical, Hormonal, and Genetic Characteristics of 5α-Reductase Type 2 Deficiency in 103 Chinese Patients
9天前
已完结
Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects
10天前
已完结
Spectrum of HBB gene mutations among 696 β–thalassemia patients and carriers in Southern Vietnam
10天前
已完结
Genetic Causes of Hereditary Myopathies in a Cohort of Male Patients: Molecular Diagnosis in Myopathies
18天前
已完结
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
21天前
已完结
Dual Oxidase System Genes Defects in Children With Congenital Hypothyroidism
21天前
已完结
Genetic Causes of Hereditary Myopathies in a Cohort of Male Patients: Molecular Diagnosis in Myopathies
24天前
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