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Cost of exome sequencing in epileptic encephalopathy: is it 'worth it'?

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第一作者： Eva B,Forman

第一单位： Department of Neurology and Neurophysiology, Temple Street Children's University Hospital, Dublin, Ireland.

作者： Eva B,Forman ^[1] ; Kathleen M,Gorman ^[1] ; Judith,Conroy ^[2] ; Neil,Arthur ^[3] ; Ciara,Grant ^[1] ; Sean,Ennis ^[2] ; Nicholas M,Allen ^[4] ; Sally Ann,Lynch ^[5] ; Mary D,King ^[6]

作者单位： Department of Neurology and Neurophysiology, Temple Street Children's University Hospital, Dublin, Ireland. ^[1] School of Medicine and Medical Science, Academic Centre on Rare Diseases, University College Dublin, Dublin, Ireland. ^[2] Institute of Chartered Accountants in Ireland, Dublin, Ireland. ^[3] Department of Paediatric, National University of Ireland, Galway, Galway University Hospital, Galway, Ireland. ^[4] School of Medicine and Medical Science, Academic Centre on Rare Diseases, University College Dublin, Dublin, Ireland.;Department of Clinical Genetics, Temple Street Children's University Hospital, Dublin, Ireland. ^[5] Department of Neurology and Neurophysiology, Temple Street Children's University Hospital, Dublin, Ireland.;School of Medicine and Medical Science, Academic Centre on Rare Diseases, University College Dublin, Dublin, Ireland. ^[6]

关键词 cost analysis early onset epileptic encephalopathy genetics whole exome sequencing