Lv1
30 积分 2023-04-25 加入
Hemizygous SMARCA1 variants cause X-linked intellectual disability
11小时前
待确认
Hemizygous SMARCA1 variants cause X-linked intellectual disability
5天前
已关闭
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
5天前
已完结
Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness
6天前
已完结
Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study
6天前
已关闭
Evidence for 28 genetic disorders discovered by combining healthcare and research data
7天前
已完结
TheSCN1AMutation Database: Updating Information and Analysis of the Relationships among Genotype, Functional Alteration, and Phenotype
1个月前
已完结
Congenital cranial dysinnervation disorder with homozygous KIF26A variant
3个月前
已完结
The clinical profile of adult-onset idiopathic generalised epilepsy
3个月前
已完结
Epilepsy with generalized tonic–clonic seizures alone: Electroclinical features and prognostic patterns
3个月前
已完结
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