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The role of rare genetic variants enrichment in epilepsies of presumed genetic etiology.
Bundalian, Linnaeus; Su, Yin-Yuan; Chen, Siwei; Velluva, Akhil; Kirstein, Anna Sophia; Garten, Antje; Biskup, Saskia; Battke, Florian; Lal, Dennis; Heyne, Henrike O; Platzer, Konrad; Lin, Chen-Ching; Lemke, Johannes R; Le Duc, Diana.
Afiliação
  • Bundalian L; Institute of Human Genetics, University of Leipzig Medical Center, 4103 Leipzig, Germany.
  • Su YY; Institute of Biomedical Informatics, National Yang Ming Chiao Tung University, Taipei, Taiwan.
  • Chen S; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Velluva A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Kirstein AS; Division of General Biochemistry, Rudolf Schönheimer Institute of Biochemistry, Medical Faculty, Leipzig University, 04103, Leipzig, Germany.
  • Garten A; Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, 04103, Leipzig, Germany.
  • Biskup S; Pediatric Research Center, University Hospital for Children and Adolescents, Leipzig University, 04103, Leipzig, Germany.
  • Battke F; Pediatric Research Center, University Hospital for Children and Adolescents, Leipzig University, 04103, Leipzig, Germany.
  • Lal D; CeGaT GmbH, 72076, Tuebingen, Germany.
  • Heyne HO; Hertie-Institute for Clinical Brain Research, 72070, Tubingen, Germany.
  • Platzer K; CeGaT GmbH, 72076, Tuebingen, Germany.
  • Lin CC; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Lemke JR; Cologne Center for Genomics, University of Cologne, 50937 Cologne, Germany.
  • Le Duc D; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
medRxiv ; 2023 Mar 10.
Article em En | MEDLINE | ID: mdl-36974069
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Etiology_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Etiology_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article