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Rapid exome sequencing in critically ill children impacts acute and long-term management of patients and their families: A retrospective regional evaluation

Helen McDermott, Charlotte Sherlaw‐Sturrock, Júlia Baptista, Lorraine Hartles-Spencer, Swati Naik

2022European Journal of Medical Genetics22 citationsDOIOpen Access PDF

Topics & Concepts

Exome sequencingExomeMedicineProbandPediatricsCohortGeneticsInternal medicineBiologyMutationGeneGenomics and Rare DiseasesNeurogenetic and Muscular Disorders ResearchHereditary Neurological Disorders
Rapid exome sequencing in critically ill children impacts acute and long-term management of patients and their families: A retrospective regional evaluation | Litcius