Lv21
110 积分 2024-02-08 加入
Genetic profiling of epidermolysis bullosa in a large Brazilian cohort
1小时前
待确认
Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China
2天前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
20天前
已完结
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
1个月前
已关闭
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
1个月前
已完结
Management of refractory acidosis caused by massive bicarbonaturia in GRACILE syndrome: a quiz
1个月前
已完结
Clinical, biochemical and genetic analysis of Chinese patients with isobutyryl-CoA dehydrogenase deficiency
7个月前
已完结
RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders
7个月前
已完结
Aberrant Splicing Caused by Compound Heterozygous Variants in WDR35 Identified in a Fetus With Cranioectodermal Dysplasia 2
7个月前
已完结
Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations
7个月前
已完结
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