Lv1
20 积分 2025-08-12 加入
In-house multiplex ligation-dependent probe amplification assay for citrin deficiency: analytical validation and novel exonic deletions in SLC25A13
3天前
已完结
In-house multiplex ligation-dependent probe amplification assay for citrin deficiency: analytical validation and novel exonic deletions in SLC25A13
3天前
已完结
The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening
11天前
已完结
Analysis of ACADVL gene variations among nine neonates with very long chain acyl-coA dehydrogenase deficiency
11天前
已完结
10个中国汉族寻常型鱼鳞病家系的FLG基因突变分析
1个月前
已完结
Myofilament Protein Gene Mutation Screening and Outcome of Patients With Hypertrophic Cardiomyopathy
1个月前
已完结
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