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A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project.
Blakes, Alexander J M; Wai, Htoo A; Davies, Ian; Moledina, Hassan E; Ruiz, April; Thomas, Tessy; Bunyan, David; Thomas, N Simon; Burren, Christine P; Greenhalgh, Lynn; Lees, Melissa; Pichini, Amanda; Smithson, Sarah F; Taylor Tavares, Ana Lisa; O'Donovan, Peter; Douglas, Andrew G L; Whiffin, Nicola; Baralle, Diana; Lord, Jenny.
Afiliação
  • Blakes AJM; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK.
  • Wai HA; Faculty of Medicine, National Heart and Lung Institute, Imperial College London, London, UK.
  • Davies I; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK.
  • Moledina HE; Cancer Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Ruiz A; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK.
  • Thomas T; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
  • Bunyan D; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
  • Thomas NS; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK.
  • Burren CP; Faculty of Medicine, University of Southampton, Southampton, UK.
  • Greenhalgh L; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK.
  • Lees M; Faculty of Medicine, University of Southampton, Southampton, UK.
  • Pichini A; Department of Paediatric Endocrinology and Diabetes, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.
  • Smithson SF; Bristol Medical School, Department of Translational Health Sciences, University of Bristol, Bristol, UK.
  • Taylor Tavares AL; Liverpool Centre for Genomic Medicine, Crown Street, Liverpool, UK.
  • O'Donovan P; North East Thames Regional Genomics Service, Great Ormond Street Hospital, London, UK.
  • Douglas AGL; Department of Clinical Genetics, University Hospitals Bristol and Weston Foundation Trust, Bristol, UK.
  • Whiffin N; Department of Clinical Genetics, University Hospitals Bristol and Weston Foundation Trust, Bristol, UK.
  • Baralle D; Genomics England, Dawson Hall, Charterhouse Square, London, UK.
  • Lord J; Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Hills Road, Cambridge, UK.
Genome Med ; 14(1): 79, 2022 07 26.
Article em En | MEDLINE | ID: mdl-35883178
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Splicing de RNA / Doenças Raras Tipo de estudo: Diagnostic_studies / Guideline Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Splicing de RNA / Doenças Raras Tipo de estudo: Diagnostic_studies / Guideline Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article