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Next-generation sequencing identifies rare variants associated with Noonan syndrome.
Chen, Peng-Chieh; Yin, Jiani; Yu, Hui-Wen; Yuan, Tao; Fernandez, Minerva; Yung, Christina K; Trinh, Quang M; Peltekova, Vanya D; Reid, Jeffrey G; Tworog-Dube, Erica; Morgan, Margaret B; Muzny, Donna M; Stein, Lincoln; McPherson, John D; Roberts, Amy E; Gibbs, Richard A; Neel, Benjamin G; Kucherlapati, Raju.
Afiliação
  • Chen PC; Department of Genetics, Harvard Medical School, Boston, MA 02115;Department of Medicine, Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115;Institute of Clinical Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan 70457, Ta
  • Yin J; Princess Margaret Cancer Center, University Health Network, and Department of Medical Biophysics, University of Toronto, Toronto, ON, Canada M5G 1L7;
  • Yu HW; Institute of Clinical Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan 70457, Taiwan;
  • Yuan T; Department of Medicine, Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115;
  • Fernandez M; Princess Margaret Cancer Center, University Health Network, and Department of Medical Biophysics, University of Toronto, Toronto, ON, Canada M5G 1L7;
  • Yung CK; Ontario Institute for Cancer Research, Toronto, ON, Canada M5G 0A3;
  • Trinh QM; Ontario Institute for Cancer Research, Toronto, ON, Canada M5G 0A3;
  • Peltekova VD; Ontario Institute for Cancer Research, Toronto, ON, Canada M5G 0A3;
  • Reid JG; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030; and.
  • Tworog-Dube E; Department of Medicine, Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115;
  • Morgan MB; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030; and.
  • Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030; and.
  • Stein L; Ontario Institute for Cancer Research, Toronto, ON, Canada M5G 0A3;
  • McPherson JD; Ontario Institute for Cancer Research, Toronto, ON, Canada M5G 0A3;
  • Roberts AE; Department of Cardiology and Division of Genetics, Department of Medicine, Boston Children's Hospital Boston, Boston, MA 02115.
  • Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030; and.
  • Neel BG; Princess Margaret Cancer Center, University Health Network, and Department of Medical Biophysics, University of Toronto, Toronto, ON, Canada M5G 1L7; bneel@uhnresearch.ca rkucherlapati@partners.org.
  • Kucherlapati R; Department of Genetics, Harvard Medical School, Boston, MA 02115;Department of Medicine, Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115; bneel@uhnresearch.ca rkucherlapati@partners.org.
Proc Natl Acad Sci U S A ; 111(31): 11473-8, 2014 Aug 05.
Article em En | MEDLINE | ID: mdl-25049390
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sequenciamento de Nucleotídeos em Larga Escala / Mutação / Síndrome de Noonan Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2014 Tipo de documento: Article
Texto completo
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sequenciamento de Nucleotídeos em Larga Escala / Mutação / Síndrome de Noonan Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2014 Tipo de documento: Article