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Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders.
Lee, Sunwoo; Menzies, Lara; Hay, Eleanor; Ochoa, Eguzkine; Docquier, France; Rodger, Fay; Deshpande, Charu; Foulds, Nicola C; Jacquemont, Sébastien; Jizi, Khadije; Kiep, Henriette; Kraus, Alison; Löhner, Katharina; Morrison, Patrick J; Popp, Bernt; Richardson, Ruth; van Haeringen, Arie; Martin, Ezequiel; Toribio, Ana; Li, Fudong; Jones, Wendy D; Sansbury, Francis H; Maher, Eamonn R.
Afiliación
  • Lee S; Department of Medical Genetics, University of Cambridge, Cambridge CB2 0QQ, UK.
  • Menzies L; Department of Clinical Genetics, Great Ormond Street Hospital, London WC1N 3JH, UK.
  • Hay E; Department of Clinical Genetics, Great Ormond Street Hospital, London WC1N 3JH, UK.
  • Ochoa E; Department of Medical Genetics, University of Cambridge, Cambridge CB2 0QQ, UK.
  • Docquier F; Department of Medical Genetics, University of Cambridge, Cambridge CB2 0QQ, UK.
  • Rodger F; Stratified Medicine Core Laboratory NGS Hub, Department of Medical Genetics, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Deshpande C; Department of Medical Genetics, University of Cambridge, Cambridge CB2 0QQ, UK.
  • Foulds NC; Stratified Medicine Core Laboratory NGS Hub, Department of Medical Genetics, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • Jacquemont S; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Saint Mary's Hospital, Manchester, UK.
  • Jizi K; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Kiep H; CHU Sainte-Justine Research Centre, Montreal, Quebec, Canada.
  • Kraus A; Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada.
  • Löhner K; CHU Sainte-Justine Research Centre, Montreal, Quebec, Canada.
  • Morrison PJ; Department of Neuropediatrics, University Hospital for Children and Adolescents, Leipzig, Germany.
  • Popp B; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK.
  • Richardson R; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • van Haeringen A; Patrick G Johnston Centre for Cancer Research and Cell Biology, Queens University Belfast, Belfast, UK.
  • Martin E; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Toribio A; Center of Functional Genomics, Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Berlin, Germany.
  • Li F; Northern Genetics Service, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK.
  • Jones WD; Department of Clinical Genetics, Leiden University Hospital, Leiden, The Netherlands.
  • Sansbury FH; Department of Medical Genetics, University of Cambridge, Cambridge CB2 0QQ, UK.
  • Maher ER; Stratified Medicine Core Laboratory NGS Hub, Department of Medical Genetics, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Hum Mol Genet ; 32(22): 3123-3134, 2023 11 03.
Article en En | MEDLINE | ID: mdl-37166351
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cromatina / Trastornos del Neurodesarrollo Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cromatina / Trastornos del Neurodesarrollo Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Reino Unido