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20 积分 2024-08-06 加入
A Novel SCN5A Missense Variant Associated With Familial Non-Dilated Left Ventricular Cardiomyopathy
1天前
待确认
Genotype-Phenotype Correlation of SCN5A Genotype in Patients With Brugada Syndrome and Arrhythmic Events: Insights From the SABRUS in 392 Probands
1天前
已关闭
Clinical presentation and follow-up of women affected by Brugada syndrome
1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
5天前
已完结
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy
9天前
已完结
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy
9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
Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome
1个月前
已完结
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort
2个月前
已完结
Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population
2个月前
已完结
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