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...

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Vydáno v:J Clin Lab Anal
Hlavní autoři: Song, Tingting, Wan, Shanning, Li, Yu, Xu, Ying, Dang, Yinghui, Zheng, Yunyun, Li, Chunyan, Zheng, Jiao, Chen, Biliang, Zhang, Jianfang
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2018
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Research Articles
On-line přístup: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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