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60 积分 2024-08-06 加入
Two missense mutations in CYP4F22 in autosomal recessive congenital ichthyosis
5天前
已关闭
Whole-exome sequencing identified a novel pathogenic mutation of the CYP4F22 gene in a Chinese patient with autosomal recessive congenital ichthyosis and in vitro study of the mutant CYP4F22 protein
5天前
已完结
Non-classical 21-hydroxylase deficiency in children: association of adrenocorticotropic hormone-stimulated 17-hydroxyprogesterone with the risk of compound heterozygosity with severe mutations
10天前
已完结
A Novel SCN5A Missense Variant Associated With Familial Non-Dilated Left Ventricular Cardiomyopathy
11天前
已完结
Genotype-Phenotype Correlation of SCN5A Genotype in Patients With Brugada Syndrome and Arrhythmic Events: Insights From the SABRUS in 392 Probands
11天前
已关闭
Clinical presentation and follow-up of women affected by Brugada syndrome
12天前
已完结
Genetic analysis of developmental and epileptic encephalopathy caused by novel biallelic SZT2 gene mutations in three Chinese Han infants: a case series and literature review
15天前
已完结
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy
20天前
已完结
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy
20天前
已完结
Identification of two novel pathogenic mutations in the SKOR2 gene linked to cerebellar hypoplasia and a broad spectrum of neurodevelopmental delay in two Iranian families
1个月前
已完结
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