Your browser doesn't support javascript.
loading
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.
Hempel, Maja; Cremer, Kirsten; Ockeloen, Charlotte W; Lichtenbelt, Klaske D; Herkert, Johanna C; Denecke, Jonas; Haack, Tobias B; Zink, Alexander M; Becker, Jessica; Wohlleber, Eva; Johannsen, Jessika; Alhaddad, Bader; Pfundt, Rolph; Fuchs, Sigrid; Wieczorek, Dagmar; Strom, Tim M; van Gassen, Koen L I; Kleefstra, Tjitske; Kubisch, Christian; Engels, Hartmut; Lessel, Davor.
  • Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Cremer K; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
  • Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Lichtenbelt KD; Department of Medical Genetics, University Medical Center Utrecht, 3508 GA Utrecht, the Netherlands.
  • Herkert JC; Department of Genetics, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, the Netherlands.
  • Denecke J; Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany.
  • Haack TB; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
  • Zink AM; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
  • Becker J; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
  • Wohlleber E; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
  • Johannsen J; Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany.
  • Alhaddad B; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
  • Pfundt R; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Fuchs S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Wieczorek D; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45122 Essen, Germany.
  • Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
  • van Gassen KL; Department of Medical Genetics, University Medical Center Utrecht, 3508 GA Utrecht, the Netherlands.
  • Kleefstra T; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Engels H; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany. Electronic address: hartmut.engels@uni-bonn.de.
  • Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address: d.lessel@uke.de.
Am J Hum Genet ; 97(3): 493-500, 2015 Sep 03.
Article en En | MEDLINE | ID: mdl-26340335
Asunto(s)
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fosfoproteínas / Trastornos del Habla / Anomalías Múltiples / Proteínas Cromosómicas no Histona / Codón sin Sentido / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male Idioma: En Año: 2015 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fosfoproteínas / Trastornos del Habla / Anomalías Múltiples / Proteínas Cromosómicas no Histona / Codón sin Sentido / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male Idioma: En Año: 2015 Tipo del documento: Article