Prenatal diagnosis of fetuses with Emanuel syndrome: Results of ultrasound examination and invasive genetic testing
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DOI: 10.1002/pd.6098
Abstract: To investigate prenatal manifestations of Emanuel syndrome (ES) by retrospectively analyzing the results of prenatal diagnosis. read more here.
Keywords: diagnosis fetuses; fetuses emanuel; diagnosis; syndrome results ... See more keywords
Molecular diagnosis for 55 fetuses with skeletal dysplasias by whole‐exome sequencing: A retrospective cohort study
Sign Up to like & getrecommendations! Published in 2021 at "Clinical Genetics"
DOI: 10.1111/cge.13976
Abstract: Skeletal dysplasias (SDs) are common birth defects, but they are difficult to diagnose accurately according to only the limited phenotypic information available from ultrasound during the pregnancy. To evaluate the application of whole‐exome sequencing (WES)… read more here.
Keywords: exome sequencing; diagnosis; whole exome; molecular diagnosis ... See more keywords