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Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.
Goos, Jacqueline A C; Fenwick, Aimee L; Swagemakers, Sigrid M A; McGowan, Simon J; Knight, Samantha J L; Twigg, Stephen R F; Hoogeboom, A Jeannette M; van Dooren, Marieke F; Magielsen, Frank J; Wall, Steven A; Mathijssen, Irene M J; Wilkie, Andrew O M; van der Spek, Peter J; van den Ouweland, Ans M W.
Afiliação
  • Goos JA; Erasmus MC, Department of Plastic and Reconstructive Surgery and Hand Surgery, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Fenwick AL; Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.
  • Swagemakers SM; Erasmus MC, Department of Bioinformatics, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • McGowan SJ; Computational Biology Research Group, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.
  • Knight SJ; NIHR Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Twigg SR; Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.
  • Hoogeboom AJ; Erasmus MC, Department of Clinical Genetics, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • van Dooren MF; Erasmus MC, Department of Clinical Genetics, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Magielsen FJ; Erasmus MC, Department of Clinical Genetics, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Wall SA; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, UK.
  • Mathijssen IM; Erasmus MC, Department of Plastic and Reconstructive Surgery and Hand Surgery, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Wilkie AO; Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.
  • van der Spek PJ; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, UK.
  • van den Ouweland AM; Erasmus MC, Department of Bioinformatics, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Hum Mutat ; 37(8): 732-6, 2016 08.
Article em En | MEDLINE | ID: mdl-27158814
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deleção de Sequência / Análise de Sequência de DNA / Sequências de Repetição em Tandem / Craniossinostoses / Fatores de Transcrição Hélice-Alça-Hélice Básicos Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deleção de Sequência / Análise de Sequência de DNA / Sequências de Repetição em Tandem / Craniossinostoses / Fatores de Transcrição Hélice-Alça-Hélice Básicos Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article