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Sensitive quantitative detection of somatic mosaic mutation in "double cortex" syndrome.
Damiano, John A; Do, Hongdo; Ozturk, Ezgi; Burgess, Rosemary; Kalnins, Renate; Jones, Nigel C; Dobrovic, Alexander; Berkovic, Samuel F; Hildebrand, Michael S.
Afiliación
  • Damiano JA; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC.
  • Do H; Translational Genomics and Epigenomics Laboratory, Olivia Newton-John Cancer Research Institute, Heidelberg, VIC, School of Cancer Medicine, La Trobe University, Bundoora, VIC, Department of Pathology, University of Melbourne, Parkville, VIC.
  • Ozturk E; Department of Medicine, University of Melbourne, Royal Melbourne Hospital, Parkville, VIC.
  • Burgess R; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC.
  • Kalnins R; Anatomical Pathology, Austin Health, Heidelberg, VIC, 3084, Australia.
  • Jones NC; Department of Medicine, University of Melbourne, Royal Melbourne Hospital, Parkville, VIC.
  • Dobrovic A; Translational Genomics and Epigenomics Laboratory, Olivia Newton-John Cancer Research Institute, Heidelberg, VIC, School of Cancer Medicine, La Trobe University, Bundoora, VIC, Department of Pathology, University of Melbourne, Parkville, VIC.
  • Berkovic SF; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC.
  • Hildebrand MS; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC.
Epileptic Disord ; 19(4): 450-455, 2017 Dec 01.
Article en En | MEDLINE | ID: mdl-29258966
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Epilepsias Parciales / 1-Alquil-2-acetilglicerofosfocolina Esterasa / Lisencefalias Clásicas y Heterotopias Subcorticales en Banda / Epilepsia Refractaria / Proteínas Asociadas a Microtúbulos / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans Idioma: En Revista: Epileptic Disord Asunto de la revista: CEREBRO / NEUROLOGIA Año: 2017 Tipo del documento: Article
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Epilepsias Parciales / 1-Alquil-2-acetilglicerofosfocolina Esterasa / Lisencefalias Clásicas y Heterotopias Subcorticales en Banda / Epilepsia Refractaria / Proteínas Asociadas a Microtúbulos / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans Idioma: En Revista: Epileptic Disord Asunto de la revista: CEREBRO / NEUROLOGIA Año: 2017 Tipo del documento: Article