Lv51
884 积分 2024-08-07 加入
[Analysis of clinical features, biochemical indices and genetic variants among children with Short/branched-chain acyl-CoA dehydrogenase deficiency detected by neonatal screening]
7小时前
已完结
A phenotype-enhanced variant classification framework to decrease the burden of missense variants of uncertain significance in type 1 long QT syndrome
12天前
已完结
A phenotype-enhanced variant classification framework to decrease the burden of missense variants of uncertain significance in type 1 long QT syndrome
12天前
已完结
Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non‐syndromic inherited retinal dystrophies
13天前
已完结
Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study
13天前
已完结
Identification of the bruton tyrosine kinase (BTK) gene mutations in 20 Australian families with X-linked agammaglobulinemia (XLA)
13天前
已关闭
Identification of 22 novel BTK gene variants in B cell deficiency with hypogammaglobulinemia
13天前
已完结
Prenatal diagnosis of polycystic renal diseases: diagnostic yield, novel disease-causing variants, and genotype–phenotype correlations
20天前
已完结
Prenatal diagnosis of polycystic renal diseases: diagnostic yield, novel disease-causing variants, and genotype–phenotype correlations
20天前
已完结
Characteristics of genotype and phenotype in Chinese patients with Bardet–Biedl syndrome
20天前
已完结
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