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Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations.
Corbett, Mark A; Turner, Samantha J; Gardner, Alison; Silver, Jeremy; Stankovich, Jim; Leventer, Richard J; Derry, Christopher P; Carroll, Renée; Ha, Thuong; Scheffer, Ingrid E; Bahlo, Melanie; Jackson, Graeme D; Mackey, David A; Berkovic, Samuel F; Gecz, Jozef.
Afiliación
  • Corbett MA; Adelaide Medical School, Robinson Research Institute, The University of Adelaide, Adelaide 5005, Australia.
  • Turner SJ; Department of Paediatrics, The University of Melbourne Royal Children's Hospital, Parkville 3010, Australia; Neuroscience of Speech Group, Clinical Sciences Theme, Murdoch Children's Research Institute, Parkville 3052, Australia.
  • Gardner A; Adelaide Medical School, Robinson Research Institute, The University of Adelaide, Adelaide 5005, Australia.
  • Silver J; The Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, Australia; School of Earth Sciences, The University of Melbourne, Parkville 3010, Australia.
  • Stankovich J; The Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, Australia; School of Earth Sciences, The University of Melbourne, Parkville 3010, Australia.
  • Leventer RJ; Department of Paediatrics, The University of Melbourne Royal Children's Hospital, Parkville 3010, Australia; Department of Neurology, Murdoch Children's Research Institute, Parkville 3052, Australia.
  • Derry CP; Department of Paediatrics, The University of Melbourne Royal Children's Hospital, Parkville 3010, Australia; Department of Sleep Medicine, Royal Infirmary of Edinburgh, Edinburgh EH16 4SA, United Kingdom.
  • Carroll R; Adelaide Medical School, Robinson Research Institute, The University of Adelaide, Adelaide 5005, Australia.
  • Ha T; School of Biological Sciences, The University of Adelaide, Adelaide 5005, Australia.
  • Scheffer IE; Department of Paediatrics, The University of Melbourne Royal Children's Hospital, Parkville 3010, Australia; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg 3084, Australia; Florey Institute of Neuroscience and Mental Health, Melbourne 3084, Austr
  • Bahlo M; The Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, Australia; School of Earth Sciences, The University of Melbourne, Parkville 3010, Australia.
  • Jackson GD; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg 3084, Australia; Florey Institute of Neuroscience and Mental Health, Melbourne 3084, Australia.
  • Mackey DA; Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia.
  • Berkovic SF; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg 3084, Australia.
  • Gecz J; Adelaide Medical School, Robinson Research Institute, The University of Adelaide, Adelaide 5005, Australia; School of Biological Sciences, The University of Adelaide, Adelaide 5005, Australia; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia. Electronic address: j
Eur J Med Genet ; 60(8): 437-443, 2017 Aug.
Article en En | MEDLINE | ID: mdl-28602933
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Desprendimiento de Retina / Colágeno Tipo VIII / Encefalocele / Síndrome de Lennox-Gastaut / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Desprendimiento de Retina / Colágeno Tipo VIII / Encefalocele / Síndrome de Lennox-Gastaut / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Países Bajos