Detection of copy number variants using chromosomal microarray analysis for the prenatal diagnosis of congenital heart defects with normal karyotype

BACKGROUND: With the increasing availability of chromosomal microarray analysis (CMA) for congenital heart defect (CHD), genetic testing now faces new challenges due to results with uncertain clinical impact. Studies are needed to better define the penetrance of genetic variants. The aim of the stud...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Clin Lab Anal
Prif Awduron: Song, Tingting, Wan, Shanning, Li, Yu, Xu, Ying, Dang, Yinghui, Zheng, Yunyun, Li, Chunyan, Zheng, Jiao, Chen, Biliang, Zhang, Jianfang
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2018
Pynciau:
Research Articles
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6430372/
https://ncbi.nlm.nih.gov/pubmed/30047171
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jcla.22630
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