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Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.
Quinlan-Jones, Elizabeth; Lord, Jenny; Williams, Denise; Hamilton, Sue; Marton, Tamas; Eberhardt, Ruth Y; Rinck, Gabriele; Prigmore, Elena; Keelagher, Rebecca; McMullan, Dominic J; Maher, Eamonn R; Hurles, Matthew E; Kilby, Mark D.
Afiliação
  • Quinlan-Jones E; Department of Clinical Genetics, Birmingham Women's & Children's NHS Foundation Trust, Birmingham, UK.
  • Lord J; West Midlands Fetal Medicine Centre, Birmingham Women's & Children's NHS Foundation Trust, Birmingham, UK.
  • Williams D; Wellcome Sanger Institute, Hinxton, Cambridge, UK.
  • Hamilton S; Department of Clinical Genetics, Birmingham Women's & Children's NHS Foundation Trust, Birmingham, UK.
  • Marton T; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK.
  • Eberhardt RY; West Midlands Regional Perinatal Pathology Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
  • Rinck G; Wellcome Sanger Institute, Hinxton, Cambridge, UK.
  • Prigmore E; Wellcome Sanger Institute, Hinxton, Cambridge, UK.
  • Keelagher R; Wellcome Sanger Institute, Hinxton, Cambridge, UK.
  • McMullan DJ; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK.
  • Maher ER; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK.
  • Hurles ME; Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge, UK.
  • Kilby MD; Wellcome Sanger Institute, Hinxton, Cambridge, UK.
Genet Med ; 21(5): 1065-1073, 2019 05.
Article em En | MEDLINE | ID: mdl-30293990

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / Anormalidades Congênitas / Doenças Fetais Tipo de estudo: Diagnostic_studies / Etiology_studies / Guideline / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male / Newborn / Pregnancy Idioma: En Revista: Genet Med Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / Anormalidades Congênitas / Doenças Fetais Tipo de estudo: Diagnostic_studies / Etiology_studies / Guideline / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male / Newborn / Pregnancy Idioma: En Revista: Genet Med Ano de publicação: 2019 Tipo de documento: Article