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20 积分 2025-08-27 加入
[Clinical and mutational features of maternal 3-methylcrotonyl coenzyme deficiency]
3天前
已完结
Features of BSCL2 related congenital generalized lipodystrophy in China: long-term follow-up of three patients and literature review
8天前
已完结
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
8天前
已完结
Pathogenic variant of DYNC2H1 associated with lingual hamartoma in a Chinese pedigree
10天前
已完结
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
12天前
已完结
Genetic Testing for Hypertriglyceridemia in Academic Lipid Clinics: Implications for Precision Medicine—Brief Report
12天前
已完结
Investigating genetic variants in early-onset obesity through exome sequencing: A retrospective cohort study
12天前
已完结
Dilated cardiomyopathy caused by truncating titin variants: long-term outcomes, arrhythmias, response to treatment and sex differences
25天前
已关闭
Carnitine palmitoyltransferase II deficiency: Diagnosis by molecular analysis of blood
1个月前
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
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