Lv11
20 积分 2023-12-22 加入
Association between SCN5A R225Q variant and dilated cardiomyopathy: potential role of intracellular pH and WNT/β-catenin pathway
5小时前
待确认
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
2天前
已完结
A child with febrile and atypical absence seizures caused by a NLGN2 variant
8天前
已完结
[Genotype and phenotype of WWOX gene related developmental and epileptic encephalopathy]
8天前
已完结
[Genotype and phenotype of WWOX gene related developmental and epileptic encephalopathy]
8天前
已完结
Identification of Novel Genetic Risk Variants Associated with Hidradenitis Suppurativa in an Exome Sequencing Cohort of 92,455 Individuals
8天前
已完结
Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships
8天前
已完结
Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships
8天前
已完结
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals
15天前
已完结
IQGAP3 deficiency leads to non-syndromic hearing loss via inhibition of CDC42 enzyme activity
17天前
已完结
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