Lv11
42 积分 2024-10-25 加入
Epidemiological characteristics of patients with Hutchinson-Gilford progeria syndrome and progeroid laminopathies in China
3小时前
已完结
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
7天前
已完结
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals
25天前
已完结
[Tandem mass spectrometry screening and genetic analysis of neonates with Urea cycle disorders]
30天前
已完结
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy]
1个月前
已完结
Sinus arrest in familial hypokalemic periodic paralysis caused by SCN4A mutation: a case report
2个月前
已完结
Optimizing next-generation sequencing for genetic diagnosis in autosomal dominant polycystic kidney disease
2个月前
已完结
[Identification of two novel PRRT2 gene variants in two children with paroxysmal kinesigenic dyskinesia]
2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]
2个月前
已完结
[Dystrophin gene analysis on 76 families with dystrophinopathy]
3个月前
已关闭
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