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Rapid whole genome sequencing has clinical utility in children in the pediatric intensive care unit

OBJECTIVES: Genetic disorders are a leading contributor to mortality in the neonatal and pediatric intensive care unit (ICU) in the United States. Although individually rare, there are over 6200 single gene diseases, which may preclude a genetic diagnosis prior to ICU admission. Rapid whole genome s...

詳細記述

保存先:
書誌詳細
出版年:Pediatr Crit Care Med
主要な著者: Sanford, Erica F., Clark, Michelle M., Farnaes, Lauge, Williams, Matthew R., Perry, James C., Ingulli, Elizabeth G., Sweeney, Nathaly M., Doshi, Ami, Gold, Jeffrey J., Briggs, Benjamin, Bainbridge, Matthew N., Feddock, Michele, Watkins, Kelly, Chowdhury, Shimul, Nahas, Shareef A., Dimmock, David P., Kingsmore, Stephen F., Coufal, Nicole G.
フォーマット: Artigo
言語:Inglês
出版事項: 2019
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6832787/
https://ncbi.nlm.nih.gov/pubmed/31246743
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/PCC.0000000000002056
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