Lv2
160 积分 2024-02-08 加入
Clinical, biochemical and genetic analysis of Chinese patients with isobutyryl-CoA dehydrogenase deficiency
3个月前
已完结
RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders
3个月前
已完结
Aberrant Splicing Caused by Compound Heterozygous Variants in WDR35 Identified in a Fetus With Cranioectodermal Dysplasia 2
3个月前
已完结
Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations
3个月前
已完结
[A novel GATA4 mutation leading to congenital ventricular septal defect]
5个月前
已完结
Novel mutations in three patients with LGMD2C with phenotypic differences
5个月前
已完结
Prognosis for loss-of-function vs hot-spot variants in RBM20-related cardiomyopathy
5个月前
已完结
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