Lv21
164 积分 2021-12-02 加入
Lipoprotein(a) in hereditary hypercholesterolemia: Influence of the genetic cause, defective gene and type of mutation
7小时前
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小时前
已关闭
Genotype-Phenotype Correlation of SCN5A Genotype in Patients With Brugada Syndrome and Arrhythmic Events: Insights From the SABRUS in 392 Probands
11小时前
已完结
Clinical presentation and follow-up of women affected by Brugada syndrome
11小时前
已完结
Mutation spectrum and genotype-phenotype correlation of pediatric patients with methylmalonic acidemia
13天前
已完结
Phenotypic complexities of rare heterozygous neurexin-1 deletions
19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