Lv1
38 积分 2024-10-25 加入
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy]
10小时前
已完结
Sinus arrest in familial hypokalemic periodic paralysis caused by SCN4A mutation: a case report
22天前
已完结
Optimizing next-generation sequencing for genetic diagnosis in autosomal dominant polycystic kidney disease
1个月前
已完结
[Identification of two novel PRRT2 gene variants in two children with paroxysmal kinesigenic dyskinesia]
1个月前
已完结
[Clinical phenotypic and genetic analysis of three children with Paroxysmal kinesigenic dyskinesia and Self-limited familial infantile epilepsy caused by PRRT2 gene mutation]
1个月前
已完结
[Dystrophin gene analysis on 76 families with dystrophinopathy]
1个月前
已关闭
Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China
2个月前
已完结
Mutational analysis of patients with X-linked adrenoleukodystrophy
3个月前
已完结
MC1R Germline Variants Confer Risk for BRAF -Mutant Melanoma
3个月前
已完结
A Review of Current and Prospective Treatments for Channelopathies, with a Focus on Gene and Protein Therapy
3个月前
已完结
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