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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2018
Materias:
Diagnostics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6252361/
https://www.ncbi.nlm.nih.gov/pubmed/30049826
http://dx.doi.org/10.1136/jmedgenet-2018-105396

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6252361/
https://www.ncbi.nlm.nih.gov/pubmed/30049826
http://dx.doi.org/10.1136/jmedgenet-2018-105396

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