Lv12
90 积分 2024-10-16 加入
PIGNencephalopathy: Characterizing the epileptology
1天前
待确认
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
8天前
已完结
[Clinical and genetic spectrum of SCN2A gene associated epilepsy and episodic ataxia]
28天前
已完结
13 例 SCN2A 基因突变相关儿童神经系统疾病表型分析
28天前
已完结
13 例 SCN2A 基因突变相关儿童神经系统疾病表型分析
1个月前
已完结
Clinical, genetic, and radionuclide characteristics of the focal form of congenital hyperinsulinism
1个月前
已关闭
Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions
1个月前
已完结
Primary hyperoxaluria: Comprehensive mutation screening of the disease causing genes and spectrum of disease‐associated pathogenic variants
1个月前
已完结
Next step in molecular genetics of hereditary breast/ovarian cancer: Multigene panel testing in clinical actionably genes and prioritization algorithms in the study of variants of uncertain significance
1个月前
已完结
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes
1个月前
已完结
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