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Genome sequencing identifies major causes of severe intellectual disability.
Gilissen, Christian; Hehir-Kwa, Jayne Y; Thung, Djie Tjwan; van de Vorst, Maartje; van Bon, Bregje W M; Willemsen, Marjolein H; Kwint, Michael; Janssen, Irene M; Hoischen, Alexander; Schenck, Annette; Leach, Richard; Klein, Robert; Tearle, Rick; Bo, Tan; Pfundt, Rolph; Yntema, Helger G; de Vries, Bert B A; Kleefstra, Tjitske; Brunner, Han G; Vissers, Lisenka E L M; Veltman, Joris A.
Afiliação
  • Gilissen C; 1] Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands [2].
  • Hehir-Kwa JY; 1] Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands [2].
  • Thung DT; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands.
  • van de Vorst M; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands.
  • van Bon BW; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands.
  • Willemsen MH; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands.
  • Kwint M; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands.
  • Janssen IM; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands.
  • Hoischen A; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands.
  • Schenck A; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands.
  • Leach R; Complete Genomics Inc. 2071 Stierlin Court, Mountain View, California 94043, USA.
  • Klein R; Complete Genomics Inc. 2071 Stierlin Court, Mountain View, California 94043, USA.
  • Tearle R; Complete Genomics Inc. 2071 Stierlin Court, Mountain View, California 94043, USA.
  • Bo T; 1] Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands [2] State Key Laboratory of Medical Genetics, Central South University. 110 Xiangya Road, Cha
  • Pfundt R; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands.
  • Yntema HG; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands.
  • de Vries BB; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands.
  • Kleefstra T; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands.
  • Brunner HG; 1] Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands [2] Department of Clinical Genetics, Maastricht University Medical Centre. Universiteitssinge
  • Vissers LE; 1] Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands [2].
  • Veltman JA; 1] Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands [2] Department of Clinical Genetics, Maastricht University Medical Centre. Universiteitssinge
Nature ; 511(7509): 344-7, 2014 Jul 17.
Article em En | MEDLINE | ID: mdl-24896178
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genoma Humano / Análise de Sequência de DNA / Polimorfismo de Nucleotídeo Único / Variações do Número de Cópias de DNA / Deficiência Intelectual / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genoma Humano / Análise de Sequência de DNA / Polimorfismo de Nucleotídeo Único / Variações do Número de Cópias de DNA / Deficiência Intelectual / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article