Lv2
150 积分 2024-02-08 加入
Management of refractory acidosis caused by massive bicarbonaturia in GRACILE syndrome: a quiz
15小时前
求助中
Clinical, biochemical and genetic analysis of Chinese patients with isobutyryl-CoA dehydrogenase deficiency
6个月前
已完结
RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders
6个月前
已完结
Aberrant Splicing Caused by Compound Heterozygous Variants in WDR35 Identified in a Fetus With Cranioectodermal Dysplasia 2
6个月前
已完结
Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations
6个月前
已完结
[A novel GATA4 mutation leading to congenital ventricular septal defect]
7个月前
已完结
Novel mutations in three patients with LGMD2C with phenotypic differences
8个月前
已完结
Prognosis for loss-of-function vs hot-spot variants in RBM20-related cardiomyopathy
8个月前
已完结
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