Lv1
20 积分 2023-12-22 加入
Clinical presentation and follow-up of women affected by Brugada syndrome
3天前
已完结
Association between SCN5A R225Q variant and dilated cardiomyopathy: potential role of intracellular pH and WNT/β-catenin pathway
3天前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
6天前
已完结
A child with febrile and atypical absence seizures caused by a NLGN2 variant
11天前
已完结
[Genotype and phenotype of WWOX gene related developmental and epileptic encephalopathy]
11天前
已完结
[Genotype and phenotype of WWOX gene related developmental and epileptic encephalopathy]
11天前
已完结
Identification of Novel Genetic Risk Variants Associated with Hidradenitis Suppurativa in an Exome Sequencing Cohort of 92,455 Individuals
11天前
已完结
Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships
11天前
已完结
Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships
11天前
已完结
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals
19天前
已完结
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