Загрузка...

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...

Полное описание

Сохранить в:
Библиографические подробности
Опубликовано в: :J Clin Lab Anal
Главные авторы: Song, Tingting, Wan, Shanning, Li, Yu, Xu, Ying, Dang, Yinghui, Zheng, Yunyun, Li, Chunyan, Zheng, Jiao, Chen, Biliang, Zhang, Jianfang
Формат: Artigo
Язык:Inglês
Опубликовано: John Wiley and Sons Inc. 2018
Предметы:
Online-ссылка: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
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!