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0 积分 2025-08-27 加入
Features of BSCL2 related congenital generalized lipodystrophy in China: long-term follow-up of three patients and literature review
9小时前
待确认
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
11小时前
已完结
Pathogenic variant of DYNC2H1 associated with lingual hamartoma in a Chinese pedigree
2天前
已完结
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
4天前
已完结
Genetic Testing for Hypertriglyceridemia in Academic Lipid Clinics: Implications for Precision Medicine—Brief Report
4天前
已完结
Investigating genetic variants in early-onset obesity through exome sequencing: A retrospective cohort study
4天前
已完结
Dilated cardiomyopathy caused by truncating titin variants: long-term outcomes, arrhythmias, response to treatment and sex differences
17天前
已关闭
Carnitine palmitoyltransferase II deficiency: Diagnosis by molecular analysis of blood
23天前
已完结
Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort
1个月前
已完结
Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants
1个月前
已完结
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