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Biallelic variants in YRDC cause a developmental disorder with progeroid features.
Schmidt, Julia; Goergens, Jonas; Pochechueva, Tatiana; Kotter, Annika; Schwenzer, Niko; Sitte, Maren; Werner, Gesa; Altmüller, Janine; Thiele, Holger; Nürnberg, Peter; Isensee, Jörg; Li, Yun; Müller, Christian; Leube, Barbara; Reinhardt, H Christian; Hucho, Tim; Salinas, Gabriela; Helm, Mark; Jachimowicz, Ron D; Wieczorek, Dagmar; Kohl, Tobias; Lehnart, Stephan E; Yigit, Gökhan; Wollnik, Bernd.
Afiliação
  • Schmidt J; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany. julia.schmidt1@med.uni-goettingen.de.
  • Goergens J; Max-Planck-Institute for Biology of Ageing, Cologne, Germany.
  • Pochechueva T; Department I of Internal Medicine, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Kotter A; Heart Research Center Göttingen, Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany.
  • Schwenzer N; Institute of Pharmaceutical and Biomedical Sciences, Johannes Gutenberg-University Mainz, Mainz, Germany.
  • Sitte M; Heart Research Center Göttingen, Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany.
  • Werner G; Cluster of Excellence "Multiscale Bioimaging: From Molecular Machines to Networks of Excitable Cells" (MBExC), University of Göttingen, Göttingen, Germany.
  • Altmüller J; NGS-Integrative Genomics Core Unit (NIG), Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
  • Thiele H; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany.
  • Nürnberg P; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Isensee J; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Core Facility Genomics, Charitéplatz 1, 10117, Berlin, Germany.
  • Li Y; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.
  • Müller C; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Leube B; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Reinhardt HC; Department of Anesthesiology and Intensive Care Medicine, Translational Pain Research, University Hospital of Cologne, Cologne, Germany.
  • Hucho T; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany.
  • Salinas G; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany.
  • Helm M; Institute of Human Genetics, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
  • Jachimowicz RD; Department of Hematology and Stem Cell Transplantation, University Hospital Essen, University Duisburg-Essen, German Cancer Consortium (DKTK Partner Site Essen), Essen, Germany.
  • Wieczorek D; Department of Anesthesiology and Intensive Care Medicine, Translational Pain Research, University Hospital of Cologne, Cologne, Germany.
  • Kohl T; NGS-Integrative Genomics Core Unit (NIG), Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
  • Lehnart SE; Institute of Pharmaceutical and Biomedical Sciences, Johannes Gutenberg-University Mainz, Mainz, Germany.
  • Yigit G; Max-Planck-Institute for Biology of Ageing, Cologne, Germany.
  • Wollnik B; Department I of Internal Medicine, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
Hum Genet ; 140(12): 1679-1693, 2021 Dec.
Article em En | MEDLINE | ID: mdl-34545459
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Progéria / Deficiências do Desenvolvimento / Proteínas de Ligação a RNA / Proteínas de Ligação ao GTP Tipo de estudo: Prognostic_studies Limite: Humans / Male / Newborn Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Progéria / Deficiências do Desenvolvimento / Proteínas de Ligação a RNA / Proteínas de Ligação ao GTP Tipo de estudo: Prognostic_studies Limite: Humans / Male / Newborn Idioma: En Ano de publicação: 2021 Tipo de documento: Article