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Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children.
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.
Afiliação
  • Mestek-Boukhibar L; GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Clement E; Department of Clinical Genetics, North East Thames RegionalGenetics Service, Great Ormond Street Hospital for Children NHS Trust, London, UK.
  • Jones WD; Department of Clinical Genetics, North East Thames RegionalGenetics Service, Great Ormond Street Hospital for Children NHS Trust, London, UK.
  • Drury S; Congenica Ltd, Bioinnovation Data Centre, Wellcome Genome Campus, Cambridge, UK.
  • Ocaka L; GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Gagunashvili A; GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Le Quesne Stabej P; GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Bacchelli C; GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Jani N; GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Rahman S; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Jenkins L; NE Thames Regional Genetics Laboratory, Great Ormond Street Hospital, London, UK.
  • Hurst JA; Department of Clinical Genetics, North East Thames RegionalGenetics Service, Great Ormond Street Hospital for Children NHS Trust, London, UK.
  • Bitner-Glindzicz M; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Peters M; Respiratory, Critical Care and Anaesthesia Unit, UCL Great Ormond Street Institute of Child Health and Great Ormond Street NHS Foundation Trust, London, UK.
  • Beales PL; GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Williams HJ; GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
J Med Genet ; 55(11): 721-728, 2018 11.
Article em En | MEDLINE | ID: mdl-30049826
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Estado Terminal / Sequenciamento Completo do Genoma / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Estado Terminal / Sequenciamento Completo do Genoma / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article