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ATR-16 syndrome: mechanisms linking monosomy to phenotype.
Babbs, Christian; Brown, Jill; Horsley, Sharon W; Slater, Joanne; Maifoshie, Evie; Kumar, Shiwangini; Ooijevaar, Paul; Kriek, Marjolein; Dixon-McIver, Amanda; Harteveld, Cornelis L; Traeger-Synodinos, Jan; Wilkie, Andrew O M; Higgs, Douglas R; Buckle, Veronica J.
Afiliação
  • Babbs C; MRC Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK christian.babbs@imm.ox.ac.uk veronica.buckle@imm.ox.ac.uk.
  • Brown J; MRC Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Horsley SW; MRC Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Slater J; MRC Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Maifoshie E; MRC Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Kumar S; IGENZ Ltd, Auckland, New Zealand.
  • Ooijevaar P; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Kriek M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Dixon-McIver A; IGENZ Ltd, Auckland, New Zealand.
  • Harteveld CL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Traeger-Synodinos J; Department of Medical Genetics, National and Kapodistrian University of Athens, Athens, Greece.
  • Wilkie AOM; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Higgs DR; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, UK.
  • Buckle VJ; MRC Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
J Med Genet ; 57(6): 414-421, 2020 06.
Article em En | MEDLINE | ID: mdl-32005695
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Talassemia alfa / Variações do Número de Cópias de DNA / Proteínas Mutadas de Ataxia Telangiectasia / Deficiência Intelectual / Monossomia Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Talassemia alfa / Variações do Número de Cópias de DNA / Proteínas Mutadas de Ataxia Telangiectasia / Deficiência Intelectual / Monossomia Idioma: En Ano de publicação: 2020 Tipo de documento: Article