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A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability.
Benson, Katherine A; White, Maire; Allen, Nicholas M; Byrne, Susan; Carton, Robert; Comerford, Elizabeth; Costello, Daniel; Doherty, Colin; Dunleavey, Brendan; El-Naggar, Hany; Gangadharan, Nisha; Heavin, Sinéad; Kearney, Hugh; Lench, Nicholas J; Lynch, John; McCormack, Mark; Regan, Mary O'; Podesta, Karl; Power, Kevin; Rogers, Anthony S; Steward, Charles A; Sweeney, Brian; Webb, David; Fitzsimons, Mary; Greally, Marie; Delanty, Norman; Cavalleri, Gianpiero L.
Afiliação
  • Benson KA; School of Pharmacy and Biomolecular Sciences, The Royal College of Surgeons in Ireland, Dublin, Ireland.
  • White M; FutureNeuro SFI Research Centre, Dublin, Ireland.
  • Allen NM; School of Pharmacy and Biomolecular Sciences, The Royal College of Surgeons in Ireland, Dublin, Ireland.
  • Byrne S; Department of Paediatrics, National University of Ireland Galway, Galway University Hospital, Galway, Ireland.
  • Carton R; School of Pharmacy and Biomolecular Sciences, The Royal College of Surgeons in Ireland, Dublin, Ireland.
  • Comerford E; FutureNeuro SFI Research Centre, Dublin, Ireland.
  • Costello D; Our Lady's Children's Hospital Crumlin, Dublin, Ireland.
  • Doherty C; School of Pharmacy and Biomolecular Sciences, The Royal College of Surgeons in Ireland, Dublin, Ireland.
  • Dunleavey B; FutureNeuro SFI Research Centre, Dublin, Ireland.
  • El-Naggar H; School of Pharmacy and Biomolecular Sciences, The Royal College of Surgeons in Ireland, Dublin, Ireland.
  • Gangadharan N; Department of Neurology, Cork University Hospital & University College Cork, Cork, Ireland.
  • Heavin S; Department of Neurology, St James' Hospital, Dublin, Ireland.
  • Kearney H; Ergo IT Services, Dublin, Ireland.
  • Lench NJ; School of Pharmacy and Biomolecular Sciences, The Royal College of Surgeons in Ireland, Dublin, Ireland.
  • Lynch J; FutureNeuro SFI Research Centre, Dublin, Ireland.
  • McCormack M; Department of Neurology, Beaumont Hospital, Dublin, Ireland.
  • Regan MO; School of Pharmacy and Biomolecular Sciences, The Royal College of Surgeons in Ireland, Dublin, Ireland.
  • Podesta K; FutureNeuro SFI Research Centre, Dublin, Ireland.
  • Power K; School of Pharmacy and Biomolecular Sciences, The Royal College of Surgeons in Ireland, Dublin, Ireland.
  • Rogers AS; School of Pharmacy and Biomolecular Sciences, The Royal College of Surgeons in Ireland, Dublin, Ireland.
  • Steward CA; FutureNeuro SFI Research Centre, Dublin, Ireland.
  • Sweeney B; Department of Neurology, Beaumont Hospital, Dublin, Ireland.
  • Webb D; Congenica Ltd, Wellcome Genome Campus, Hinxton, Cambridge, UK.
  • Fitzsimons M; Department of Neurology, University Hospital Galway, Galway, Ireland.
  • Greally M; School of Pharmacy and Biomolecular Sciences, The Royal College of Surgeons in Ireland, Dublin, Ireland.
  • Delanty N; Our Lady's Children's Hospital Crumlin, Dublin, Ireland.
  • Cavalleri GL; Microsoft, Dublin, Ireland.
Eur J Hum Genet ; 28(8): 1066-1077, 2020 08.
Article em En | MEDLINE | ID: mdl-32238909

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Epilepsia / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Irlanda País de publicação: Reino Unido

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Epilepsia / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Irlanda País de publicação: Reino Unido