Lv5
852 积分 2024-01-07 加入
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy
20天前
已完结
Mutation spectrum of amyotrophic lateral sclerosis in Central South China
24天前
已完结
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application
1个月前
已完结
Identification of six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia families
1个月前
已完结
Report of 33 Novel AVPR2 Mutations and Analysis of 117 Families with X-Linked Nephrogenic Diabetes Insipidus
2个月前
已完结
Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies
2个月前
已完结
Impaired cell surface expression of GLP1R variants determines T2D and obesity risk in humans
3个月前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
3个月前
已完结
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients
3个月前
已完结
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application
3个月前
已完结
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