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Nine newly identified individuals refine the phenotype associated with MYT1L mutations.
Windheuser, Isabelle C; Becker, Jessica; Cremer, Kirsten; Hundertmark, Hela; Yates, Laura M; Mangold, Elisabeth; Peters, Sophia; Degenhardt, Franziska; Ludwig, Kerstin U; Zink, Alexander M; Lessel, Davor; Bierhals, Tatjana; Herget, Theresia; Johannsen, Jessika; Denecke, Jonas; Wohlleber, Eva; Strom, Tim M; Wieczorek, Dagmar; Bertoli, Marta; Colombo, Roberto; Hempel, Maja; Engels, Hartmut.
Afiliação
  • Windheuser IC; Institute of Human Genetics, University of Bonn, University Hospital Bonn, Bonn, Germany.
  • Becker J; Institute of Human Genetics, University of Bonn, University Hospital Bonn, Bonn, Germany.
  • Cremer K; Institute of Human Genetics, University of Bonn, University Hospital Bonn, Bonn, Germany.
  • Hundertmark H; Institute of Human Genetics, University of Bonn, University Hospital Bonn, Bonn, Germany.
  • Yates LM; Northern Genetics Service, Institute of Genetic Medicine, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK.
  • Mangold E; Laura M. Yates, Inkosi Albert Letholi Central Hospital and KRISP, University of KwaZulu-Natal, KwaZulu-Natal, South Africa.
  • Peters S; Institute of Human Genetics, University of Bonn, University Hospital Bonn, Bonn, Germany.
  • Degenhardt F; Institute of Human Genetics, University of Bonn, University Hospital Bonn, Bonn, Germany.
  • Ludwig KU; Institute of Human Genetics, University of Bonn, University Hospital Bonn, Bonn, Germany.
  • Zink AM; Department of Genomics, Life & Brain Center, Rheinische Friedrich-Wilhelms-University, Bonn, Germany.
  • Lessel D; Institute of Human Genetics, University of Bonn, University Hospital Bonn, Bonn, Germany.
  • Bierhals T; Department of Genomics, Life & Brain Center, Rheinische Friedrich-Wilhelms-University, Bonn, Germany.
  • Herget T; Institute of Human Genetics, University of Bonn, University Hospital Bonn, Bonn, Germany.
  • Johannsen J; Department of Genomics, Life & Brain Center, Rheinische Friedrich-Wilhelms-University, Bonn, Germany.
  • Denecke J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Wohlleber E; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Strom TM; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Wieczorek D; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Bertoli M; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Colombo R; Institute of Human Genetics, University of Bonn, University Hospital Bonn, Bonn, Germany.
  • Hempel M; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Engels H; Institut für Humangenetik, Universitätsklinikum Düsseldorf, Heinrich-Heine-Universität Düsseldorf, Düsseldorf, Germany.
Am J Med Genet A ; 182(5): 1021-1031, 2020 05.
Article em En | MEDLINE | ID: mdl-32065501
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Predisposição Genética para Doença / Deficiência Intelectual / Proteínas do Tecido Nervoso / Obesidade Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Predisposição Genética para Doença / Deficiência Intelectual / Proteínas do Tecido Nervoso / Obesidade Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Alemanha