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High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics.
Thomas, Quentin; Vitobello, Antonio; Tran Mau-Them, Frederic; Duffourd, Yannis; Fromont, Agnès; Giroud, Maurice; Daubail, Benoit; Jacquin-Piques, Agnès; Hervieu-Begue, Marie; Moreau, Thibault; Osseby, Guy-Victor; Garret, Philippine; Nambot, Sophie; Delanne, Julian; Bruel, Ange-Line; Sorlin, Arthur; Callier, Patrick; Denomme-Pichon, Anne-Sophie; Faivre, Laurence; Béjot, Yannick; Philippe, Christophe; Thauvin-Robinet, Christel; Moutton, Sébastien.
Afiliação
  • Thomas Q; Inserm UMR1231 team GAD, University of Burgundy and Franche-Comté, Dijon, France quentin.thomas@chu-dijon.fr.
  • Vitobello A; Genetics Center, FHU-TRANSLAD, Dijon University Hospital, Dijon, Burgundy, France.
  • Tran Mau-Them F; Neurology Department, Dijon University Hospital, Dijon, Burgundy, France.
  • Duffourd Y; Inserm UMR1231 team GAD, University of Burgundy and Franche-Comté, Dijon, France.
  • Fromont A; Functional Unity of innovative diagnosis for rare diseases, Dijon Bourgogne University Hospital, Dijon, Burgundy, France.
  • Giroud M; Inserm UMR1231 team GAD, University of Burgundy and Franche-Comté, Dijon, France.
  • Daubail B; Functional Unity of innovative diagnosis for rare diseases, Dijon Bourgogne University Hospital, Dijon, Burgundy, France.
  • Jacquin-Piques A; Inserm UMR1231 team GAD, University of Burgundy and Franche-Comté, Dijon, France.
  • Hervieu-Begue M; Functional Unity of innovative diagnosis for rare diseases, Dijon Bourgogne University Hospital, Dijon, Burgundy, France.
  • Moreau T; Neurology Department, Dijon University Hospital, Dijon, Burgundy, France.
  • Osseby GV; Neurology Department, Dijon University Hospital, Dijon, Burgundy, France.
  • Garret P; Dijon Stroke Registry, EA7460, Pathophysiology and Epidemiology of Cerebro-Cardiovascular Diseases (PEC2), University of Burgundy and Franche-Comté, Dijon, Burgundy, France.
  • Nambot S; Department of Adult Neurophysiology, Dijon University Hospital, Dijon, Burgundy, France.
  • Delanne J; Department of Adult Neurophysiology, Dijon University Hospital, Dijon, Burgundy, France.
  • Bruel AL; Neurology Department, Dijon University Hospital, Dijon, Burgundy, France.
  • Sorlin A; Neurology Department, Dijon University Hospital, Dijon, Burgundy, France.
  • Callier P; Neurology Department, Dijon University Hospital, Dijon, Burgundy, France.
  • Denomme-Pichon AS; Inserm UMR1231 team GAD, University of Burgundy and Franche-Comté, Dijon, France.
  • Faivre L; Functional Unity of innovative diagnosis for rare diseases, Dijon Bourgogne University Hospital, Dijon, Burgundy, France.
  • Béjot Y; Inserm UMR1231 team GAD, University of Burgundy and Franche-Comté, Dijon, France.
  • Philippe C; Genetics Center, FHU-TRANSLAD, Dijon University Hospital, Dijon, Burgundy, France.
  • Thauvin-Robinet C; Inserm UMR1231 team GAD, University of Burgundy and Franche-Comté, Dijon, France.
  • Moutton S; Genetics Center, FHU-TRANSLAD, Dijon University Hospital, Dijon, Burgundy, France.
J Med Genet ; 59(5): 445-452, 2022 05.
Article em En | MEDLINE | ID: mdl-34085946
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Exoma / Doenças do Sistema Nervoso Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: J Med Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: França
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Exoma / Doenças do Sistema Nervoso Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: J Med Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: França