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De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review.
van den Akker, W M R; Brummelman, I; Martis, L M; Timmermans, R N; Pfundt, R; Kleefstra, T; Willemsen, M H; Gerkes, E H; Herkert, J C; van Essen, A J; Rump, P; Vansenne, F; Terhal, P A; van Haelst, M M; Cristian, I; Turner, C E; Cho, M T; Begtrup, A; Willaert, R; Fassi, E; van Gassen, K L I; Stegmann, A P A; de Vries, B B A; Schuurs-Hoeijmakers, J H M.
Afiliación
  • van den Akker WMR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Brummelman I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Martis LM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Timmermans RN; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Willemsen MH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Gerkes EH; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Herkert JC; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • van Essen AJ; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Rump P; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Vansenne F; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Terhal PA; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
  • van Haelst MM; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
  • Cristian I; Department of Clinical Genetics, AMC/VUmc, Amsterdam, The Netherlands.
  • Turner CE; Division of Genetics and Metabolism, Department of Pediatrics, Nemours Children's Hospital Orlando, Orlando, Florida.
  • Cho MT; Department of Genetics, Walter Reed National Military Medical Center, Bethesda, Maryland.
  • Begtrup A; GeneDx, Gaithersburg, Maryland.
  • Willaert R; GeneDx, Gaithersburg, Maryland.
  • Fassi E; GeneDx, Gaithersburg, Maryland.
  • van Gassen KLI; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri.
  • Stegmann APA; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
  • de Vries BBA; Department of Human Genetics, Maastricht University Hospital, Maastricht, The Netherlands.
  • Schuurs-Hoeijmakers JHM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Clin Genet ; 93(5): 1000-1007, 2018 05.
Article en En | MEDLINE | ID: mdl-29393965
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Proteína Quinasa CDC2 / Cardiopatías Congénitas / Discapacidad Intelectual Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Clin Genet Año: 2018 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Dinamarca
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Proteína Quinasa CDC2 / Cardiopatías Congénitas / Discapacidad Intelectual Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Clin Genet Año: 2018 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Dinamarca