Lv41
428 积分 2023-11-30 加入
[KCNQ 1 (KvLQT1) missense mutation causing congenital long QT syndrome (Jervell-Lange-Nielsen) in a Mexican family]
5小时前
求助中
[Compound heterozygous NDUFS1 variants identified in a Chinese pedigree affected with mitochondrial respiratory chain complex I deficiency]
3天前
已完结
Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non‐syndromic inherited retinal dystrophies
8天前
已完结
Are CUL3 variants an underreported cause of congenital heart disease?
9天前
已完结
Novel Mutations ofFOXC1andPITX2in Patients with Axenfeld-Rieger Malformations
9天前
已完结
Titin-Truncating Variants Increase the Risk of Cardiovascular Death in Patients With Hypertrophic Cardiomyopathy
12天前
已完结
Titin-Truncating Variants Increase the Risk of Cardiovascular Death in Patients With Hypertrophic Cardiomyopathy
12天前
已完结
3-Methylcrotonyl-CoA carboxylase deficiency newborn screening in a population of 536,008: is routine screening necessary?
15天前
已完结
Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population
15天前
已完结
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
15天前
已完结
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