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Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of gen...

Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of gen...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1891089639

Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development

About this item

Full title

Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development

Publisher

New York: Nature Publishing Group US

Journal title

Genetics in medicine, 2017-10, Vol.19 (10), p.1171-1178

Language

English

Formats

Publication information

Publisher

New York: Nature Publishing Group US

More information

Scope and Contents

Contents

Purpose
The aim of this study was to determine the diagnostic yield of whole-exome sequencing (WES) in fetuses with ultrasound anomalies that resulted in fetal demise or pregnancy termination. The results were also utilized to aid in the identification of candidate genes for fetal development and to expand the clinical phenotype of known genetic...

Alternative Titles

Full title

Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_1891089639

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1891089639

Other Identifiers

ISSN

1098-3600

E-ISSN

1530-0366

DOI

10.1038/gim.2017.31

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