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30 积分 2022-04-28 加入
Arginase deficiency—An unheralded cause of developmental epileptic encephalopathy
1天前
已完结
Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy
1天前
已关闭
Genetic approach in amyotrophic lateral sclerosis
7天前
已完结
New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex development
21天前
已完结
Ectodysplasin pathogenic variants affecting the furin‐cleavage site and unusual clinical features define X‐linked hypohidrotic ectodermal dysplasia in India
28天前
已完结
Loss of stability and hydrophobicity of presenilin 1 mutations causing Alzheimer's disease
1个月前
已完结
[Study of a CADASIL family with migraine as the presenting symptom]
1个月前
已完结
Phenotype-Genotype Analysis Based on Molecular Classification in 135 Children With Mitochondrial Disease
2个月前
已完结
Eight EDA mutations in Chinese patients with tooth agenesis and genotype–phenotype analysis
2个月前
已完结
Expanding the genetic spectrum of tooth agenesis using whole‐exome sequencing
2个月前
已完结
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