Lv1
40 积分 2023-12-22 加入
Prenatal diagnostic approaches diagnosed craniosynostosis and identified a novel nonsense variant in SMAD6 in a Chinese fetus
6天前
已完结
Identification of novel Mendelian disorders of the epigenetic machinery (MDEMs)-associated functional mutations and neurodevelopmental disorders
7天前
已完结
Clinical presentation and follow-up of women affected by Brugada syndrome
13天前
已完结
Association between SCN5A R225Q variant and dilated cardiomyopathy: potential role of intracellular pH and WNT/β-catenin pathway
14天前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
16天前
已完结
A child with febrile and atypical absence seizures caused by a NLGN2 variant
22天前
已完结
[Genotype and phenotype of WWOX gene related developmental and epileptic encephalopathy]
22天前
已完结
[Genotype and phenotype of WWOX gene related developmental and epileptic encephalopathy]
22天前
已完结
Identification of Novel Genetic Risk Variants Associated with Hidradenitis Suppurativa in an Exome Sequencing Cohort of 92,455 Individuals
22天前
已完结
Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships
22天前
已完结
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