Lv6
3080 积分 2023-12-13 加入
Characterization of Molecular Defects in Isovaleryl-CoA Dehydrogenase in Patients with Isovaleric Acidemia
2天前
已完结
[Analysis of IVD gene variants in four children with isovalerate acidemia]
2天前
已完结
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy
17天前
已关闭
A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects
1个月前
已完结
Clinical Utility of Genetic Testing in Children and Adults with Steroid-Resistant Nephrotic Syndrome
1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
1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
1个月前
已完结
Natural course and outcomes of children with ubiquitin‐specific protease 53 (USP53)‐related genetic chronic cholestasis
1个月前
已完结
A high level of Hb F unmasks a new case of Hb Wanjiang (β (F3‐F4) Ala87_Thr88delinsSer_Gln (HBB:c.255_264 delinsTTTTTCTCAG)) in a pregnant woman of African ancestry
2个月前
已完结
Isolated cardiomyopathy in a pathogenic X‐linked in frame hemizygous DMD exon 49 deletion: A rare presentation with normal creatine kinase levels and absence of musculoskeletal symptoms
2个月前
已完结
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