Lv1
30 积分 2023-05-11 加入
First report of an Ivorian family with nonsyndromic hearing loss caused by GJB2 compound heterozygous variants
10天前
已完结
Should antidepressants be used in minor depression?
1个月前
已完结
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting
2个月前
已完结
Prenatal diagnosis of Coffin‐Siris syndrome: What are the fetal features?
2个月前
已完结
湖南省非症状性听力损害患者SLC26A4基因突变研究
2个月前
已关闭
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
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States
3个月前
已关闭
CNV-seq联合qPCR对单一基因 NRXN1部分缺失的产前诊断
7个月前
已完结
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder
9个月前
已完结
A stepwise haematological screening and whole‐exome sequencing reveal multiple mutations from SUPT5H causing an elevation of Hb A2 from a cohort of 47336 individuals
1年前
已完结
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