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Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.
Bramswig, Nuria C; Lüdecke, Hermann-Josef; Hamdan, Fadi F; Altmüller, Janine; Beleggia, Filippo; Elcioglu, Nursel H; Freyer, Catharine; Gerkes, Erica H; Demirkol, Yasemin Kendir; Knupp, Kelly G; Kuechler, Alma; Li, Yun; Lowenstein, Daniel H; Michaud, Jacques L; Park, Kristen; Stegmann, Alexander P A; Veenstra-Knol, Hermine E; Wieland, Thomas; Wollnik, Bernd; Engels, Hartmut; Strom, Tim M; Kleefstra, Tjitske; Wieczorek, Dagmar.
Afiliação
  • Bramswig NC; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr. 55, 45122, Essen, Germany. nuria.braemswig@uni-due.de.
  • Lüdecke HJ; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr. 55, 45122, Essen, Germany.
  • Hamdan FF; Institut für Humangenetik, Universitätsklinikum Düsseldorf, Heinrich-Heine-Universität Düsseldorf, Düsseldorf, Germany.
  • Altmüller J; CHU Sainte-Justine Research Center, Montreal, Canada.
  • Beleggia F; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
  • Elcioglu NH; Institut für Humangenetik, Universitätsklinikum Düsseldorf, Heinrich-Heine-Universität Düsseldorf, Düsseldorf, Germany.
  • Freyer C; Department I of Internal Medicine, University Hospital of Cologne, Cologne, Germany.
  • Gerkes EH; Department of Pediatric Genetics, Marmara University Medical School, Istanbul, Turkey.
  • Demirkol YK; Eastern Mediterranean University, Cyprus, Mersin, 10, Turkey.
  • Knupp KG; Department of Neurology, University of California, San Francisco, USA.
  • Kuechler A; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Li Y; Department of Pediatric Genetics, Marmara University Medical School, Istanbul, Turkey.
  • Lowenstein DH; Department of Pediatrics and Neurology, Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Aurora, CO, USA.
  • Michaud JL; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr. 55, 45122, Essen, Germany.
  • Park K; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
  • Stegmann APA; Department of Neurology, University of California, San Francisco, USA.
  • Veenstra-Knol HE; CHU Sainte-Justine Research Center, Montreal, Canada.
  • Wieland T; Department of Pediatrics, Université de Montréal, Montreal, Canada.
  • Wollnik B; Department of Neurosciences, Université de Montréal, Montreal, Canada.
  • Engels H; Department of Pediatrics and Neurology, Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Aurora, CO, USA.
  • Strom TM; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Kleefstra T; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Wieczorek D; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
Hum Genet ; 136(7): 821-834, 2017 07.
Article em En | MEDLINE | ID: mdl-28393272
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ribonucleoproteínas Nucleares Heterogêneas Grupo U / Epilepsia / Heterozigoto / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Infant / Male Idioma: En Revista: Hum Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ribonucleoproteínas Nucleares Heterogêneas Grupo U / Epilepsia / Heterozigoto / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Infant / Male Idioma: En Revista: Hum Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Alemanha