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184 积分 2021-12-02 加入
Genotype-Phenotype Correlation of SCN5A Genotype in Patients With Brugada Syndrome and Arrhythmic Events: Insights From the SABRUS in 392 Probands
2小时前
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Genotype-Phenotype Correlation of SCN5A Genotype in Patients With Brugada Syndrome and Arrhythmic Events: Insights From the SABRUS in 392 Probands
2小时前
已完结
Clinical presentation and follow-up of women affected by Brugada syndrome
2小时前
已完结
Mutation spectrum and genotype-phenotype correlation of pediatric patients with methylmalonic acidemia
12天前
已完结
Phenotypic complexities of rare heterozygous neurexin-1 deletions
18天前
已完结
Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies
29天前
已完结
RECQL4-related Rothmund-Thomson syndrome: A case series and literature review
1个月前
已完结
Newborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population
1个月前
已完结
Comparative analysis of inherited metabolic diseases in normal newborns and high-risk children: Insights from a 10-year study in Shanghai
1个月前
已完结
Post-mortem genetic analysis of sudden unexplained death in a young cohort: a whole-exome sequencing study
1个月前
已完结