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De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
Heinzen, Erin L; O'Neill, Adam C; Zhu, Xiaolin; Allen, Andrew S; Bahlo, Melanie; Chelly, Jamel; Chen, Ming Hui; Dobyns, William B; Freytag, Saskia; Guerrini, Renzo; Leventer, Richard J; Poduri, Annapurna; Robertson, Stephen P; Walsh, Christopher A; Zhang, Mengqi.
Afiliação
  • Heinzen EL; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York, United States of America.
  • O'Neill AC; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
  • Zhu X; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York, United States of America.
  • Allen AS; Center for Statistical Genetics and Genomics, Duke University Medical Center, Durham, North Carolina, United States of America.
  • Bahlo M; Department of Biostatistics and Bioinformatics, Duke University, Durham, North Carolina, United States of America.
  • Chelly J; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.
  • Chen MH; Department of Medical Biology, School of Mathematics and Statistics, University of Melbourne, Parkville, Victoria, Australia.
  • Dobyns WB; Pôle de Biologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Freytag S; IGBMC, INSERM U964, CNRS UMR 7104, Université de Strasbourg, Illkirch, France.
  • Guerrini R; Department of Cardiology and Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, United States of America.
  • Leventer RJ; Departments of Pediatrics and Neurology, University of Washington, Seattle, Washington, United States of America.
  • Poduri A; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, United States of America.
  • Robertson SP; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia.
  • Walsh CA; Neuroscience Department, Children's Hospital Anna Meyer-University of Florence, Florence, Italy.
  • Zhang M; Department of Neurology Royal Children's Hospital, University of Melbourne, Parkville, Victoria, Australia.
PLoS Genet ; 14(5): e1007281, 2018 05.
Article em En | MEDLINE | ID: mdl-29738522
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Heterotopia Nodular Periventricular / Mutação com Perda de Função / Proteínas Associadas aos Microtúbulos Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: PLoS Genet Assunto da revista: GENETICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Heterotopia Nodular Periventricular / Mutação com Perda de Função / Proteínas Associadas aos Microtúbulos Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: PLoS Genet Assunto da revista: GENETICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos