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WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.
Bögershausen, Nina; Krawczyk, Hannah E; Jamra, Rami A; Lin, Sheng-Jia; Yigit, Gökhan; Hüning, Irina; Polo, Anna M; Vona, Barbara; Huang, Kevin; Schmidt, Julia; Altmüller, Janine; Luppe, Johannes; Platzer, Konrad; Dörgeloh, Beate B; Busche, Andreas; Biskup, Saskia; Mendes, Marisa I; Smith, Desiree E C; Salomons, Gajja S; Zibat, Arne; Bültmann, Eva; Nürnberg, Peter; Spielmann, Malte; Lemke, Johannes R; Li, Yun; Zenker, Martin; Varshney, Gaurav K; Hillen, Hauke S; Kratz, Christian P; Wollnik, Bernd.
Afiliação
  • Bögershausen N; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
  • Krawczyk HE; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
  • Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.
  • Yigit G; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
  • Hüning I; Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, Lübeck, Germany.
  • Polo AM; MVZ Labor Krone, Filialpraxis für Humangenetik, Bielefeld, Germany.
  • Vona B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
  • Huang K; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany.
  • Schmidt J; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.
  • Altmüller J; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
  • Luppe J; Cologne Center for Genomics (CCG), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
  • Platzer K; Core Facility Genomics, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.
  • Dörgeloh BB; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.
  • Busche A; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Biskup S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Mendes MI; Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.
  • Smith DEC; Institut für Humangenetik, Westfälische Wilhelms-Universität Münster, Münster, Germany.
  • Salomons GS; CeGaT GmbH, Center for Genomics and Transcriptomics, Tübingen, Germany.
  • Zibat A; Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Amsterdam Neuroscience, Amsterdam UMC, Amsterdam, Netherlands.
  • Bültmann E; Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Amsterdam Neuroscience, Amsterdam UMC, Amsterdam, Netherlands.
  • Nürnberg P; Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Amsterdam Neuroscience, Amsterdam UMC, Amsterdam, Netherlands.
  • Spielmann M; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
  • Lemke JR; Institute of Diagnostic and Interventional Neuroradiology, Hannover Medical School, Hannover, Germany.
  • Li Y; Cologne Center for Genomics (CCG), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
  • Zenker M; Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
  • Varshney GK; Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, Lübeck, Germany.
  • Hillen HS; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Kratz CP; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
  • Wollnik B; Institute of Human Genetics, Otto-von-Guericke University Magdeburg, Magdeburg, Germany.
Hum Mutat ; 43(10): 1454-1471, 2022 10.
Article em En | MEDLINE | ID: mdl-35790048
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Triptofano-tRNA Ligase / Doença de Charcot-Marie-Tooth / Aminoacil-tRNA Sintetases / Microcefalia Limite: Animals / Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Triptofano-tRNA Ligase / Doença de Charcot-Marie-Tooth / Aminoacil-tRNA Sintetases / Microcefalia Limite: Animals / Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Alemanha