Prenatal exome sequencing: A useful tool for the fetal neurologist

Prenatal exome sequencing (pES) is a promising tool for diagnosing genetic disorders when structural anomalies are detected on prenatal ultrasound. The aim of this study was to investigate the diagnostic yield and clinical impact of pES as an additional modality for fetal neurologists who counsel pa...

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Detalles Bibliográficos
Autores principales: de Koning, Maayke A., Hoffer, Mariëtte J. V., Nibbeling, Esther A. R., Bijlsma, Emilia K., Toirkens, Menno J. P., Adama‐Scheltema, Phebe N., Verweij, E. Joanne, Veenhof, Marieke B., Santen, Gijs W. E., Peeters‐Scholte, Cacha M. P. C. D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9297851/
https://www.ncbi.nlm.nih.gov/pubmed/34611884
http://dx.doi.org/10.1111/cge.14070

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9297851/
https://www.ncbi.nlm.nih.gov/pubmed/34611884
http://dx.doi.org/10.1111/cge.14070

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