Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability.

导出 LinkOut

翻译打印收藏纠错

作者： Francesca M,Snoeijen-Schouwenaars ^[1] ; Jans S,van Ool ^[1] ; Judith S,Verhoeven ^[2] ; Petra,van Mierlo ^[2] ; Hilde M H,Braakman ^[2] ; Eric E,Smeets ^[3] ; Joost,Nicolai ^[2] ; Jeroen,Schoots ^[4] ; Mariel W A,Teunissen ^[5] ; Rob P W,Rouhl ^[6] ; In Y,Tan ^[4] ; Helger G,Yntema ^[6] ; Han G,Brunner ^[7] ; Rolph,Pfundt ^[1] ; Alexander P,Stegmann ^[5] ; Erik-Jan,Kamsteeg ^[3] ; Helenius J,Schelhaas ^[5] ; Marjolein H,Willemsen ^[5]

作者单位： Department of Residential Care, Epilepsy Center Kempenhaeghe, Heeze, The Netherlands. ^[1] Academic Center for Epileptology Kempenhaeghe/Maastricht University Medical Center, Heeze, The Netherlands. ^[2] Department of Human Genetics, Maastricht University Medical Center, Maastricht, The Netherlands. ^[3] Department of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands. ^[4] Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. ^[5] Academic Center for Epileptology Kempenhaeghe/Maastricht University Medical Center, Maastricht, The Netherlands. ^[6] School for Mental Health and Neurosciences, Maastricht University, Maastricht, The Netherlands. ^[7]

关键词 genetic diagnosis learning disability next generation sequencing seizures