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Diagnostic value of exome and whole genome sequencing in craniosynostosis.
Miller, Kerry A; Twigg, Stephen R F; McGowan, Simon J; Phipps, Julie M; Fenwick, Aimée L; Johnson, David; Wall, Steven A; Noons, Peter; Rees, Katie E M; Tidey, Elizabeth A; Craft, Judith; Taylor, John; Taylor, Jenny C; Goos, Jacqueline A C; Swagemakers, Sigrid M A; Mathijssen, Irene M J; van der Spek, Peter J; Lord, Helen; Lester, Tracy; Abid, Noina; Cilliers, Deirdre; Hurst, Jane A; Morton, Jenny E V; Sweeney, Elizabeth; Weber, Astrid; Wilson, Louise C; Wilkie, Andrew O M.
Afiliação
  • Miller KA; Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Twigg SR; Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • McGowan SJ; Computational Biology Research Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Phipps JM; Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Fenwick AL; Department of Clinical Genetics, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Johnson D; Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Wall SA; Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Noons P; Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Rees KE; Department of Craniofacial Surgery, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK.
  • Tidey EA; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Craft J; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Taylor J; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Taylor JC; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Goos JA; Oxford Biomedical Research Centre, National Institute for Health Research, Oxford, UK.
  • Swagemakers SM; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Mathijssen IM; Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus Medical Centre, University Medical Centre Rotterdam, Rotterdam, The Netherlands.
  • van der Spek PJ; Department of Bioinformatics, Erasmus Medical Centre, University Medical Centre Rotterdam, Rotterdam, The Netherlands.
  • Lord H; Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus Medical Centre, University Medical Centre Rotterdam, Rotterdam, The Netherlands.
  • Lester T; Department of Bioinformatics, Erasmus Medical Centre, University Medical Centre Rotterdam, Rotterdam, The Netherlands.
  • Abid N; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Cilliers D; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Hurst JA; Department of Paediatric Endocrinology, The Royal Belfast Hospital for Sick Children, Belfast, UK.
  • Morton JE; Department of Clinical Genetics, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Sweeney E; Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Weber A; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Wilson LC; Clinical Genetics Unit, Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK.
  • Wilkie AO; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, UK.
J Med Genet ; 54(4): 260-268, 2017 04.
Article em En | MEDLINE | ID: mdl-27884935
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genoma Humano / Craniossinostoses / Sequenciamento de Nucleotídeos em Larga Escala / Proteínas de Neoplasias Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: J Med Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genoma Humano / Craniossinostoses / Sequenciamento de Nucleotídeos em Larga Escala / Proteínas de Neoplasias Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: J Med Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Reino Unido