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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.
Affiliation
  • 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 in En | MEDLINE | ID: mdl-26340335
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phosphoproteins / Speech Disorders / Abnormalities, Multiple / Chromosomal Proteins, Non-Histone / Codon, Nonsense / Intellectual Disability Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2015 Document type: Article Affiliation country: Germany Country of publication: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phosphoproteins / Speech Disorders / Abnormalities, Multiple / Chromosomal Proteins, Non-Histone / Codon, Nonsense / Intellectual Disability Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2015 Document type: Article Affiliation country: Germany Country of publication: United States