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Dissection of contiguous gene effects for deletions around ERF on chromosome 19.
Calpena, Eduardo; McGowan, Simon J; Blanco Kelly, Fiona; Boudry-Labis, Elise; Dieux-Coeslier, Anne; Harrison, Rachel; Johnson, Diana; Lachlan, Katherine; Morton, Jenny E V; Stewart, Helen; Vasudevan, Pradeep; Twigg, Stephen R F; Wilkie, Andrew O M.
  • Calpena E; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • McGowan SJ; Centre for Computational Biology, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Blanco Kelly F; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Boudry-Labis E; UF Cytogénomique des Déficiences Intellectuelles et Anomalies du Développement, Institut de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU Lille, France.
  • Dieux-Coeslier A; CHU Lille, Clinique de Génétique "Guy Fontaine", Lille, France.
  • Harrison R; Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK.
  • Johnson D; Sheffield Regional Genetics Services, Sheffield Children's NHS Trust, Sheffield, UK.
  • Lachlan K; Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Southampton, UK.
  • Morton JEV; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Stewart H; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.
  • Vasudevan P; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Wilkie AOM; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Hum Mutat ; 42(7): 811-817, 2021 07.
Article en En | MEDLINE | ID: mdl-33993607

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 19 / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Child / Humans Idioma: En Año: 2021 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 19 / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Child / Humans Idioma: En Año: 2021 Tipo del documento: Article