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ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
Yates, Thabo M; Drucker, Morgan; Barnicoat, Angela; Low, Karen; Gerkes, Erica H; Fry, Andrew E; Parker, Michael J; O'Driscoll, Mary; Charles, Perrine; Cox, Helen; Marey, Isabelle; Keren, Boris; Rinne, Tuula; McEntagart, Meriel; Ramachandran, Vijaya; Drury, Suzanne; Vansenne, Fleur; Sival, Deborah A; Herkert, Johanna C; Callewaert, Bert; Tan, Wen-Hann; Balasubramanian, Meena.
Afiliación
  • Yates TM; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  • Drucker M; Department of Pediatrics, Johns Hopkins University, Baltimore, Maryland.
  • Barnicoat A; Northeast Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK.
  • Low K; Department of Clinical Genetics, St Michael's Hospital, Bristol, UK.
  • Gerkes EH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Fry AE; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
  • Parker MJ; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  • O'Driscoll M; West Midlands Regional Clinical Genetics Service, Birmingham Health Partners Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK.
  • Charles P; Département de Génétique, APHP, Hopital La Pitie Salpetriere, Paris, France.
  • Cox H; West Midlands Regional Clinical Genetics Service, Birmingham Health Partners Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK.
  • Marey I; Département de Génétique, APHP, Hopital La Pitie Salpetriere, Paris, France.
  • Keren B; Département de Génétique, APHP, Hopital La Pitie Salpetriere, Paris, France.
  • Rinne T; Department of Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • McEntagart M; South West Thames Regional Genetics Centre, St. George's Healthcare NHS Trust, St. George's, University of London, London, UK.
  • Ramachandran V; Congenica Limited, Biodata Innovation Centre, Wellcome Genome Campus, Cambridge, UK.
  • Drury S; Congenica Limited, Biodata Innovation Centre, Wellcome Genome Campus, Cambridge, UK.
  • Vansenne F; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Sival DA; Department of Pediatrics, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, The Netherlands.
  • Herkert JC; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Callewaert B; Department of Biomolecular Medicine, Ghent University, Ghent University Hospital, Center for Medical Genetics, Ghent, Belgium.
  • Tan WH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
Hum Mutat ; 41(5): 1042-1050, 2020 05.
Article en En | MEDLINE | ID: mdl-32097528
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas de Ciclo Celular / Predisposición Genética a la Enfermedad / Proteínas de Unión al ADN / Proteínas Co-Represoras / Estudios de Asociación Genética / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas de Ciclo Celular / Predisposición Genética a la Enfermedad / Proteínas de Unión al ADN / Proteínas Co-Represoras / Estudios de Asociación Genética / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Reino Unido