Lv1
40 积分 2024-10-16 加入
Long QT syndrome with compound mutations is associated with a more severe phenotype: A Japanese multicenter study
11小时前
求助中
A retrospective study of the yield of next‐generation sequencing in the diagnosis of developmental and epileptic encephalopathies and epileptic encephalopathies in 0–12 years aged children at a single tertiary care hospital in South India
1天前
已完结
Genotype and Phenotype Correlations in 417 Children With Congenital Hyperinsulinism
1个月前
已完结
Genotype and Phenotype Correlations in 417 Children With Congenital Hyperinsulinism
1个月前
已关闭
Two novel variants and follow-up findings in four children with Bloom syndrome from two families
1个月前
已完结
Genetic screening and analysis of TUBB8 variants in females seeking ART
1个月前
已完结
An intronic variant disrupts mRNA splicing and causes FGFR3-related skeletal dysplasia
1个月前
已完结
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