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270 积分 2025-01-14 加入
Patients with von Willebrand disease in China: Results of an online survey
9小时前
待确认
[Sequencing analysis of whole SLC26A4 gene related to IVS7-2A > G mutation in 1552 moderate to profound sensorineural hearing loss patients in China]
7天前
已完结
[Follow up and gene mutation analysis in cases suspected as 3-methylcrotonyl-coenzyme A carboxylase deficiency by neonatal screening]
18天前
已完结
Multiple congenital anomalies in two fetuses with glutathione‐synthetase deficit (GSS)
26天前
已完结
Further survey of genetic variants of flavin-containing monooxygenase 3 (FMO3) in Japanese subjects found in an updated database of genome resources and identified by phenotyping for trimethylaminuria
1个月前
已完结
The impact of the European Society of Cardiology guidelines and whole exome sequencing on genetic testing in hereditary cardiac diseases
1个月前
已完结
Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder
1个月前
已完结
Exome sequencing identified mutations in the WNT1 and COL1A2 genes in osteogenesis imperfecta cases
1个月前
已完结
Exome sequencing identified mutations in the WNT1 and COL1A2 genes in osteogenesis imperfecta cases
1个月前
已完结
Molecular characteristics of young‐onset colorectal cancer in Vietnamese patients
1个月前
已完结
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