Prenatal exome sequencing in fetuses with callosal anomalies.
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal diagnosis"
DOI: 10.1002/pd.6107
Abstract: OBJECTIVE We aimed to investigate the value of exome sequencing (ES) in fetuses with callosal anomalies (CA) with or without other structural anomalies, but with normal findings by karyotyping and chromosome microarray analysis (CMA). METHODS… read more here.
Keywords: prenatal exome; fetuses callosal; callosal anomalies; sequencing fetuses ... See more keywords
Prenatal exome sequencing in fetuses with congenital heart defects
Sign Up to like & getrecommendations! Published in 2020 at "Clinical Genetics"
DOI: 10.1111/cge.13774
Abstract: The genetic diagnosis of congenital heart defects (CHDs) is challenging because of genetic and phenotypic heterogeneity. The aim of our study was to evaluate the clinical value of whole exome sequencing (WES) in the prenatal… read more here.
Keywords: exome sequencing; chds; prenatal exome; congenital heart ... See more keywords