Lv1
60 积分 2023-05-11 加入
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application
2天前
已完结
Familial low phospholipid-associated cholelithiasis resulting from an autosomal dominant ABCB4 mutation
4个月前
已关闭
[Genetic variant analysis and prenatal diagnosis for Chinese pedigrees affected with cblC methylmalonic acidemia]
6个月前
已完结
First report of an Ivorian family with nonsyndromic hearing loss caused by GJB2 compound heterozygous variants
7个月前
已完结
Should antidepressants be used in minor depression?
8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
9个月前
已完结
Prenatal diagnosis of Coffin‐Siris syndrome: What are the fetal features?
9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
10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
10个月前
已完结
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States
10个月前
已关闭
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