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Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability.
Snoeijen-Schouwenaars, Francesca M; van Ool, Jans S; Verhoeven, Judith S; van Mierlo, Petra; Braakman, Hilde M H; Smeets, Eric E; Nicolai, Joost; Schoots, Jeroen; Teunissen, Mariel W A; Rouhl, Rob P W; Tan, In Y; Yntema, Helger G; Brunner, Han G; Pfundt, Rolph; Stegmann, Alexander P; Kamsteeg, Erik-Jan; Schelhaas, Helenius J; Willemsen, Marjolein H.
Afiliación
  • Snoeijen-Schouwenaars FM; Department of Residential Care, Epilepsy Center Kempenhaeghe, Heeze, The Netherlands.
  • van Ool JS; Department of Residential Care, Epilepsy Center Kempenhaeghe, Heeze, The Netherlands.
  • Verhoeven JS; Academic Center for Epileptology Kempenhaeghe/Maastricht University Medical Center, Heeze, The Netherlands.
  • van Mierlo P; Academic Center for Epileptology Kempenhaeghe/Maastricht University Medical Center, Heeze, The Netherlands.
  • Braakman HMH; Academic Center for Epileptology Kempenhaeghe/Maastricht University Medical Center, Heeze, The Netherlands.
  • Smeets EE; Department of Human Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Nicolai J; Academic Center for Epileptology Kempenhaeghe/Maastricht University Medical Center, Heeze, The Netherlands.
  • Schoots J; Department of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Teunissen MWA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Rouhl RPW; Academic Center for Epileptology Kempenhaeghe/Maastricht University Medical Center, Maastricht, The Netherlands.
  • Tan IY; Department of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Yntema HG; Academic Center for Epileptology Kempenhaeghe/Maastricht University Medical Center, Maastricht, The Netherlands.
  • Brunner HG; School for Mental Health and Neurosciences, Maastricht University, Maastricht, The Netherlands.
  • Pfundt R; Department of Residential Care, Epilepsy Center Kempenhaeghe, Heeze, The Netherlands.
  • Stegmann AP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Kamsteeg EJ; Department of Human Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Schelhaas HJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Willemsen MH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Epilepsia ; 60(1): 155-164, 2019 01.
Article en En | MEDLINE | ID: mdl-30525188

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Epilepsia / Exoma / Secuenciación del Exoma / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Año: 2019 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Epilepsia / Exoma / Secuenciación del Exoma / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Año: 2019 Tipo del documento: Article