Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children

BACKGROUND: Rare genetic conditions are frequent risk factors for, or direct causes of, paediatric intensive care unit (PICU) admission. Such conditions are frequently suspected but unidentified at PICU admission. Compassionate and effective care is greatly assisted by definitive diagnostic informat...

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Pubblicato in:J Med Genet
Autori principali: Mestek-Boukhibar, Lamia, Clement, Emma, Jones, Wendy D, Drury, Suzanne, Ocaka, Louise, Gagunashvili, Andrey, Le Quesne Stabej, Polona, Bacchelli, Chiara, Jani, Nital, Rahman, Shamima, Jenkins, Lucy, Hurst, Jane A, Bitner-Glindzicz, Maria, Peters, Mark, Beales, Philip L, Williams, Hywel J
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Publishing Group 2018
Soggetti:
Diagnostics
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6252361/
https://ncbi.nlm.nih.gov/pubmed/30049826
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2018-105396
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