Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

PURPOSE: With growing evidence that rare single gene disorders present in the neonatal period, there is a need for rapid, systematic, and comprehensive genomic diagnoses in ICUs to assist acute and long-term clinical decisions. This study aimed to identify genetic conditions in neonatal (NICU) and p...

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Detalhes bibliográficos
Publicado no:Intensive Care Med
Main Authors: French, Courtney E., Delon, Isabelle, Dolling, Helen, Sanchis-Juan, Alba, Shamardina, Olga, Mégy, Karyn, Abbs, Stephen, Austin, Topun, Bowdin, Sarah, Branco, Ricardo G., Firth, Helen, Rowitch, David H., Raymond, F. Lucy
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2019
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Original
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6483967/
https://ncbi.nlm.nih.gov/pubmed/30847515
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00134-019-05552-x
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