Lv1
30 积分 2023-04-19 加入
Rare autosomal copy number variations in early-onset familial Alzheimer’s disease
16小时前
待确认
Genetic architecture of thoracic aortic dissection in the female population
1个月前
已完结
Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections
1个月前
已完结
Next‐generation sequencing for genetic testing of hearing loss populations
1个月前
已完结
Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis
1个月前
已完结
Fetal micrognathia in the first trimester: An ominous finding even after a normal array
1个月前
已完结
Ten novelFBN2mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype
7个月前
已完结
Prenatal diagnosis of 2q13 duplications: The crucial role of the family survey in genetic counseling on novel copy number variations
7个月前
已完结
De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type III)
7个月前
已完结
Array-Comparative Genomic Hybridization Analysis of a Cohort of Saudi Patients with Epilepsy
7个月前
已完结
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