1FC3.1 Submicroscopic chromosomal aberrations in children with cerebral malformations and refractory epilepsy
European Journal of Paediatric Neurology(2011)
摘要
1FC2.6 DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues S.A. Robb1 *, J.C. McHugh2, M.C. Pitt2, C.A. Sewry1, S. Finlayson3, A.Y. Manzur1, C. De Vile4, S. Jayawant5, J. Palace3, D. Beeson6, F. Muntoni1. 1Dubowitz Neuromuscular Centre, Institute of child Health and Great Ormond Street Hospital, United Kingdom, 2Department of Clinical Neurophysiology, Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom, 3Department of Neurology, John Radcliffe Hospital, Oxford, United Kingdom, 4Department of Neurology, Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom, 5Department of Paediatric Neurology, Oxford Childrens’ Hospital, Oxford, United Kingdom, 6Neurosciences Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom
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关键词
submicroscopic chromosomal aberrations,cerebral malformations,chromosomal aberrations,refractory epilepsy
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