Lv3
370 积分 2023-12-21 加入
Phenotypic and Genotypic Characteristics of Children with PCDH19 Clustering Epilepsy in China
1天前
已完结
Clinical characterization of a patient with CNOT2 haploinsufficiency caused by a de novo partial deletion
5天前
已完结
[Clinical manifestations and detection of pantothenate kinase 2 gene mutation in a patient with Hallervorden-Spatz syndrome]
12天前
已完结
Efficacy of flecainide in bidirectional ventricular tachycardia and tachycardia-induced cardiomyopathy with Andersen-Tawil syndrome
20天前
已完结
Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study
20天前
已完结
Experimental and Computational Analysis of Newly Identified Pathogenic Mutations in the Creatine Transporter SLC6A8
21天前
已完结
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders
22天前
已完结
A novel variant of the POLR3A gene in a Chinese patient with POLR3-related leukodystrophy
26天前
已完结
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