Your browser doesn't support javascript.
loading
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.
Bramswig, Nuria C; Lüdecke, H-J; Pettersson, M; Albrecht, B; Bernier, R A; Cremer, K; Eichler, E E; Falkenstein, D; Gerdts, J; Jansen, S; Kuechler, A; Kvarnung, M; Lindstrand, A; Nilsson, D; Nordgren, A; Pfundt, R; Spruijt, L; Surowy, H M; de Vries, B B A; Wieland, T; Engels, H; Strom, T M; Kleefstra, T; Wieczorek, D.
  • 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.
  • Pettersson M; Institut für Humangenetik, Universitätsklinikum Düsseldorf, Heinrich-Heine-Universität Düsseldorf, Düsseldorf, Germany.
  • Albrecht B; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Bernier RA; Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Cremer K; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr. 55, 45122, Essen, Germany.
  • Eichler EE; Department of Psychiatry, University of Washington, Seattle, WA, USA.
  • Falkenstein D; Institute of Human Genetics, University of Bonn, Bonn, Germany.
  • Gerdts J; Department of Genome Sciences, University of Washington, Seattle, WA, USA.
  • Jansen S; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr. 55, 45122, Essen, Germany.
  • Kuechler A; Institut für Humangenetik, Universitätsklinikum Düsseldorf, Heinrich-Heine-Universität Düsseldorf, Düsseldorf, Germany.
  • Kvarnung M; Department of Psychiatry, University of Washington, Seattle, WA, USA.
  • Lindstrand A; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Nilsson D; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr. 55, 45122, Essen, Germany.
  • Nordgren A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Pfundt R; Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Spruijt L; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Surowy HM; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • de Vries BB; Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Wieland T; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Engels H; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Strom TM; Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Kleefstra T; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Wieczorek D; Science for Life Laboratory, Karolinska Institutet Science Park, Solna, Sweden.
Hum Genet ; 136(2): 179-192, 2017 02.
Article en En | MEDLINE | ID: mdl-27848077
Asunto(s)
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastorno Autístico / Variación Genética / Proteínas Portadoras / Ubiquitina-Proteína Ligasas / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child / Female / Humans / Male Idioma: En Año: 2017 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastorno Autístico / Variación Genética / Proteínas Portadoras / Ubiquitina-Proteína Ligasas / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child / Female / Humans / Male Idioma: En Año: 2017 Tipo del documento: Article