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Genome sequencing in families with congenital limb malformations.
Elsner, Jonas; Mensah, Martin A; Holtgrewe, Manuel; Hertzberg, Jakob; Bigoni, Stefania; Busche, Andreas; Coutelier, Marie; de Silva, Deepthi C; Elçioglu, Nursel; Filges, Isabel; Gerkes, Erica; Girisha, Katta M; Graul-Neumann, Luitgard; Jamsheer, Aleksander; Krawitz, Peter; Kurth, Ingo; Markus, Susanne; Megarbane, Andre; Reis, André; Reuter, Miriam S; Svoboda, Daniel; Teller, Christopher; Tuysuz, Beyhan; Türkmen, Seval; Wilson, Meredith; Woitschach, Rixa; Vater, Inga; Caliebe, Almuth; Hülsemann, Wiebke; Horn, Denise; Mundlos, Stefan; Spielmann, Malte.
Afiliação
  • Elsner J; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
  • Mensah MA; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
  • Holtgrewe M; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.
  • Hertzberg J; Core Unit Bioinformatics, Berlin Institute of Health (BIH), Berlin, Germany.
  • Bigoni S; Max Planck Institute for Molecular Genetics, RG Development and Disease, Berlin, Germany.
  • Busche A; Medical Genetics Unit, Department of Mother and Child, Ferrara Sant'Anna University Hospital, Ferrara, Italy.
  • Coutelier M; Institut Für Humangenetik, Universitätsklinikum Münster, Münster, Germany.
  • de Silva DC; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
  • Elçioglu N; Department of Human Genetics, Faculty of Medicine, Jewish General Hospital, McGill University, Montreal, QC, Canada.
  • Filges I; Faculty of Medicine, University of Kelaniya, Ragama, Sri Lanka.
  • Gerkes E; Department of Pediatric Genetics, Marmara University Medical School, Istanbul, Turkey.
  • Girisha KM; Eastern Mediterranean University Medical School, Cyprus, Mersin 10, Turkey.
  • Graul-Neumann L; Institut für Medizinische Genetik und Pathologie, Universitätsspital Basel, Basel, Switzerland.
  • Jamsheer A; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Krawitz P; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
  • Kurth I; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
  • Markus S; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  • Megarbane A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.
  • Reis A; Institute of Human Genetics, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany.
  • Reuter MS; Fachärztin Für Humangenetik, Bischof-von-Henle-Straße 2a, Regensburg, Germany.
  • Svoboda D; Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
  • Teller C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Tuysuz B; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Türkmen S; Kinderhandchirurgie, Medizinische Fakultät Mannheim der Universität Heidelberg, Heidelberg, Germany.
  • Wilson M; Synlab MVZ Bad Nauheim, Mondorfstr. 1761231, Bad Nauheim, Germany.
  • Woitschach R; Department of Pediatric Genetics, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey.
  • Vater I; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
  • Caliebe A; National Center of Genetics (NCG), Laboratoire National de Santé 1, Rue Louis Rech, 3555, Dudelange, Luxembourg.
  • Hülsemann W; Genetic Medicine, Children's Hospital at Westmead, Paediatrics and Child Health, Sydney, Australia.
  • Horn D; Institute of Human Genetics, University Medical Center Hamburg, Eppendorf, Germany.
  • Mundlos S; Institute of Human Genetics, University of Kiel, Kiel, Germany.
  • Spielmann M; Institute of Human Genetics, University of Kiel, Kiel, Germany.
Hum Genet ; 140(8): 1229-1239, 2021 Aug.
Article em En | MEDLINE | ID: mdl-34159400
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Deformidades Congênitas dos Membros / Proteínas de Homeodomínio / Heterogeneidade Genética / Enzimas Ativadoras de Ubiquitina / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans / Infant / Male Idioma: En Revista: Hum Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Alemanha
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Deformidades Congênitas dos Membros / Proteínas de Homeodomínio / Heterogeneidade Genética / Enzimas Ativadoras de Ubiquitina / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans / Infant / Male Idioma: En Revista: Hum Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Alemanha