Lv7
3290 积分 2023-12-13 加入
Myxomatous degeneration of cardiac valves in a fetus with 6q25.1 (TAB2) deletion
22天前
已完结
Characterization of Molecular Defects in Isovaleryl-CoA Dehydrogenase in Patients with Isovaleric Acidemia
1个月前
已完结
[Analysis of IVD gene variants in four children with isovalerate acidemia]
1个月前
已完结
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy
2个月前
已关闭
A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects
2个月前
已完结
Clinical Utility of Genetic Testing in Children and Adults with Steroid-Resistant Nephrotic Syndrome
3个月前
已关闭
The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis
3个月前
已完结
The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis
3个月前
已完结
Natural course and outcomes of children with ubiquitin‐specific protease 53 (USP53)‐related genetic chronic cholestasis
3个月前
已完结
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