Articles with "trio wes" as a keyword



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[Genetic diagnosis of microcephaly].

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Published in 2023 at "Zhonghua fu chan ke za zhi"

DOI: 10.3760/cma.j.cn112141-20221102-00675

Abstract: Objective: To explore the diagnostic value of chromosome karyotype analysis, chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in microcephaly. Methods: A total of 9 cases of microcephaly fetuses diagnosed by prenatal ultrasound or… read more here.

Keywords: microcephaly; karyotype analysis; analysis cma; analysis ... See more keywords