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De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.
Fritzen, Daniel; Kuechler, Alma; Grimmel, Mona; Becker, Jessica; Peters, Sophia; Sturm, Marc; Hundertmark, Hela; Schmidt, Axel; Kreiß, Martina; Strom, Tim M; Wieczorek, Dagmar; Haack, Tobias B; Beck-Wödl, Stefanie; Cremer, Kirsten; Engels, Hartmut.
Afiliação
  • Fritzen D; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany.
  • Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstraße 55, 45147, Essen, Germany.
  • Grimmel M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstrasse 7, 72076, Tübingen, Germany.
  • Becker J; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany.
  • Peters S; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany.
  • Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstrasse 7, 72076, Tübingen, Germany.
  • Hundertmark H; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany.
  • Schmidt A; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany.
  • Kreiß M; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany.
  • Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, Ingolstaedter Landstr. 1, 85764, Neuherberg, Germany.
  • Wieczorek D; Institute of Human Genetics, Technische Universität München, Trogerstraße 32, 81675, München, Germany.
  • Haack TB; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstraße 55, 45147, Essen, Germany.
  • Beck-Wödl S; Heinrich-Heine-University, Medical Faculty, Institute of Human Genetics, Universitätsstr. 1, 40225, Düsseldorf, Germany.
  • Cremer K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstrasse 7, 72076, Tübingen, Germany.
  • Engels H; Institute of Human Genetics, Technische Universität München, Trogerstraße 32, 81675, München, Germany.
Hum Genet ; 137(5): 401-411, 2018 May.
Article em En | MEDLINE | ID: mdl-29796876
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteína-Arginina N-Metiltransferases / Proteínas F-Box / Sequenciamento do Exoma / Deficiência Intelectual / Microcefalia Tipo de estudo: Risk_factors_studies Limite: Adolescent / Child, preschool / Humans / Male Idioma: En Revista: Hum Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Alemanha
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteína-Arginina N-Metiltransferases / Proteínas F-Box / Sequenciamento do Exoma / Deficiência Intelectual / Microcefalia Tipo de estudo: Risk_factors_studies Limite: Adolescent / Child, preschool / Humans / Male Idioma: En Revista: Hum Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Alemanha