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44 积分 2024-04-22 加入
Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration
14天前
已完结
CNV-seq analysis of copy number variations in 217 fetuses with nasal bone dysplasia
1个月前
已完结
The uncertainty of copy number variants: pregnancy decisions and clinical follow-up
1个月前
已完结
Molecular findings in patients for whole exome sequencing and mitochondrial genome assessment
4个月前
已完结
Harel-Yoon综合征一家系临床表型及ATAD3A基因变异分析
7个月前
已完结
Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report
9个月前
已完结
[Genetics of neurodevelopmental disorders. Practical aspects]
9个月前
已关闭
[Genetics of neurodevelopmental disorders. Practical aspects]
9个月前
已关闭
A de novo and novel nonsense variants in ASXL2 gene is associated with Shashi–Pena syndrome
9个月前
已完结
Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease
10个月前
已完结
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