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Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients.
Hamad, Asma; Sherlaw-Sturrock, Charlotte A; Glover, Kate; Salmon, Rachel; Low, Karen; Nair, Ramya; Sansbury, Francis H; Rawlins, LettieE; Carmichael, Jenny; Horton, Rachael; Wedderburn, Sarah; Edgerley, Katherine; Irving, Rachel; Callaghan, Mary; Mercer, Catherine; McGowan, Ruth; Robert, Leema; Titheradge, Hannah; Naik, Swati.
Afiliación
  • Hamad A; West Midlands Genetics Services, Birmingham Women and Childrens NHS Foundation Trust, Birmingham. UK.
  • Sherlaw-Sturrock CA; West Midlands Genetics Services, Birmingham Women and Childrens NHS Foundation Trust, Birmingham. UK.
  • Glover K; West Midlands Genetics Services, Birmingham Women and Childrens NHS Foundation Trust, Birmingham. UK.
  • Salmon R; West Midlands Genetics Services, Birmingham Women and Childrens NHS Foundation Trust, Birmingham. UK.
  • Low K; Clinical Genetics Department, University Hospitals Bristol and Weston NHS Foundation Trust St Michael's Hospital, Bristol, UK.
  • Nair R; West Midlands Genetics Services, Birmingham Women and Childrens NHS Foundation Trust, Birmingham. UK.
  • Sansbury FH; Clinical Genetics Department, University Hospitals Bristol and Weston NHS Foundation Trust St Michael's Hospital, Bristol, UK; All Wales Medical Genomics Service, NHS Wales Cardiff and Vale University Health Board, University Hospital of Wales, Cardiff, UK.
  • Rawlins L; Peninsula Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Carmichael J; Clinical Genetics Department, Oxford Centre for Genomic Medicine, Oxford, UK; Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge, UK.
  • Horton R; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Wedderburn S; West of Scotland Centre for Genomic Medicine, Glasgow, UK.
  • Edgerley K; Clinical Genetics Department, University Hospitals Bristol and Weston NHS Foundation Trust St Michael's Hospital, Bristol, UK.
  • Irving R; Peninsula Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Callaghan M; Peninsula Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Mercer C; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • McGowan R; West of Scotland Centre for Genomic Medicine, Glasgow, UK.
  • Robert L; Clinical Genetics Department, Guy's and St Thomas' Hospital, London, UK.
  • Titheradge H; West Midlands Genetics Services, Birmingham Women and Childrens NHS Foundation Trust, Birmingham. UK. Electronic address: h.titheradge.1@bham.ac.uk.
  • Naik S; West Midlands Genetics Services, Birmingham Women and Childrens NHS Foundation Trust, Birmingham. UK.
Eur J Med Genet ; 66(4): 104714, 2023 Apr.
Article en En | MEDLINE | ID: mdl-36724812
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 11 / Duplicación Cromosómica Tipo de estudio: Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 11 / Duplicación Cromosómica Tipo de estudio: Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article