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When moments matter: Finding answers with rapid exome sequencing

BACKGROUND: When time is of the essence in critical care cases, a fast molecular diagnosis is often necessary to help health care providers quickly determine best next steps for treatments, prognosis, and counseling of their patients. In this paper, we present the diagnostic rates and improved quali...

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Detalles Bibliográficos
Autores principales: Powis, Zöe, Farwell Hagman, Kelly D., Blanco, Kirsten, Au, Margaret, Graham, John M., Singh, Kathryn, Gallant, Natalie, Randolph, Linda M., Towne, Meghan, Hunter, Jesse, Shinde, Deepali N., Palmaer, Erika, Schoenfeld, Brian, Tang, Sha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7005623/
https://www.ncbi.nlm.nih.gov/pubmed/31872981
http://dx.doi.org/10.1002/mgg3.1027