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- [2] Yield of diagnostic exome sequencing in 100 individuals with both epilepsy and an intellectual disability[J]. JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, 2016, 60 (7-8) : 810 - 810Snoeijen-Schouwenaars, F.论文数: 0 引用数: 0 h-index: 0机构: Kempenhaeghe, Heeze, Netherlands Kempenhaeghe, Heeze, NetherlandsTeunissen, M.论文数: 0 引用数: 0 h-index: 0机构: Kempenhaeghe, Heeze, Netherlands Kempenhaeghe, Heeze, NetherlandsSmeets, E.论文数: 0 引用数: 0 h-index: 0机构: Kempenhaeghe, Heeze, Netherlands Kempenhaeghe, Heeze, NetherlandsNicolai, J.论文数: 0 引用数: 0 h-index: 0机构: Kempenhaeghe, Heeze, Netherlands Kempenhaeghe, Heeze, NetherlandsVerhoeven, J.论文数: 0 引用数: 0 h-index: 0机构: Kempenhaeghe, Heeze, Netherlands Kempenhaeghe, Heeze, NetherlandsMierlo, P.论文数: 0 引用数: 0 h-index: 0机构: Kempenhaeghe, Heeze, Netherlands Kempenhaeghe, Heeze, NetherlandsRouhl, R.论文数: 0 引用数: 0 h-index: 0机构: Kempenhaeghe, Heeze, Netherlands Kempenhaeghe, Heeze, NetherlandsSchelhaas, J.论文数: 0 引用数: 0 h-index: 0机构: Kempenhaeghe, Heeze, Netherlands Kempenhaeghe, Heeze, NetherlandsWillemsen, M.论文数: 0 引用数: 0 h-index: 0机构: Kempenhaeghe, Heeze, Netherlands Kempenhaeghe, Heeze, Netherlands
- [3] Whole exome sequencing reduce diagnostic odyssey of patients with epilepsy and intellectual disability[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 612 - 613Minardi, R.论文数: 0 引用数: 0 h-index: 0机构: Ist Sci Neurol Bologna, IRCCS, UOC Neurol Clin, Bologna, Italy Ist Sci Neurol Bologna, IRCCS, UOC Neurol Clin, Bologna, ItalyLaura, L.论文数: 0 引用数: 0 h-index: 0机构: Ist Sci Neurol Bologna, IRCCS, UOC Neurol Clin, Bologna, Italy Univ Bologna, Dept Biomed & Neuromotor Sci, Bologna, Italy Ist Sci Neurol Bologna, IRCCS, UOC Neurol Clin, Bologna, ItalyPippucci, T.论文数: 0 引用数: 0 h-index: 0机构: Polyclin St Orsola Malpighi Univ Hosp, Med Genet Unit, Bologna, Italy Ist Sci Neurol Bologna, IRCCS, UOC Neurol Clin, Bologna, ItalyBaroni, M. C.论文数: 0 引用数: 0 h-index: 0机构: Univ Bologna, Dept Biomed & Surg Sci DIMEC, Bologna, Italy Ist Sci Neurol Bologna, IRCCS, UOC Neurol Clin, Bologna, ItalyStipa, C.论文数: 0 引用数: 0 h-index: 0机构: Ist Sci Neurol Bologna, IRCCS, UOC Neurol Clin, Bologna, Italy Ist Sci Neurol Bologna, IRCCS, UOC Neurol Clin, Bologna, ItalyMostacci, B.论文数: 0 引用数: 0 h-index: 0机构: Ist Sci Neurol Bologna, IRCCS, UOC Neurol Clin, Bologna, Italy Ist Sci Neurol Bologna, IRCCS, UOC Neurol Clin, Bologna, ItalySeveri, G.论文数: 0 引用数: 0 h-index: 0机构: Polyclin St Orsola Malpighi Univ Hosp, Med Genet Unit, Bologna, Italy Ist Sci Neurol Bologna, IRCCS, UOC Neurol Clin, Bologna, ItalyCarelli, V.论文数: 0 引用数: 0 h-index: 0机构: Ist Sci Neurol Bologna, IRCCS, UOC Neurol Clin, Bologna, Italy Univ Bologna, Dept Biomed & Neuromotor Sci, Bologna, Italy Ist Sci Neurol Bologna, IRCCS, UOC Neurol Clin, Bologna, ItalySeri, M.论文数: 0 引用数: 0 h-index: 0机构: Polyclin St Orsola Malpighi Univ Hosp, Med Genet Unit, Bologna, Italy Ist Sci Neurol Bologna, IRCCS, UOC Neurol Clin, Bologna, ItalyTinuper, P.论文数: 0 引用数: 0 h-index: 0机构: Ist Sci Neurol Bologna, IRCCS, UOC Neurol Clin, Bologna, Italy Univ Bologna, Dept Biomed & Neuromotor Sci, Bologna, Italy Ist Sci Neurol Bologna, IRCCS, UOC Neurol Clin, Bologna, ItalyBisulli, F.论文数: 0 引用数: 0 h-index: 0机构: Ist Sci Neurol Bologna, IRCCS, UOC Neurol Clin, Bologna, Italy Univ Bologna, Dept Biomed & Neuromotor Sci, Bologna, Italy Ist Sci Neurol Bologna, IRCCS, UOC Neurol Clin, Bologna, Italy
- [4] Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability[J]. EPILEPSIA, 2019, 60 (01) : 155 - 164Snoeijen-Schouwenaars, Francesca M.论文数: 0 引用数: 0 h-index: 0机构: Epilepsy Ctr Kempenhaeghe, Dept Residential Care, Heeze, Netherlands Epilepsy Ctr Kempenhaeghe, Dept Residential Care, Heeze, Netherlandsvan Ool, Jans S.论文数: 0 引用数: 0 h-index: 0机构: Epilepsy Ctr Kempenhaeghe, Dept Residential Care, Heeze, Netherlands Epilepsy Ctr Kempenhaeghe, Dept Residential Care, Heeze, NetherlandsVerhoeven, Judith S.论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Acad Ctr Epileptol Kempenhaeghe, Maastricht, Netherlands Epilepsy Ctr Kempenhaeghe, Dept Residential Care, Heeze, Netherlandsvan Mierlo, Petra论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Acad Ctr Epileptol Kempenhaeghe, Maastricht, Netherlands Epilepsy Ctr Kempenhaeghe, Dept Residential Care, Heeze, NetherlandsBraakman, Hilde M. H.论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Acad Ctr Epileptol Kempenhaeghe, Maastricht, Netherlands Epilepsy Ctr Kempenhaeghe, Dept Residential Care, Heeze, NetherlandsSmeets, Eric E.论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Human Genet, Maastricht, Netherlands Epilepsy Ctr Kempenhaeghe, Dept Residential Care, Heeze, NetherlandsNicolai, Joost论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Acad Ctr Epileptol Kempenhaeghe, Maastricht, Netherlands Maastricht Univ, Med Ctr, Dept Neurol, Maastricht, Netherlands Epilepsy Ctr Kempenhaeghe, Dept Residential Care, Heeze, NetherlandsSchoots, Jeroen论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Epilepsy Ctr Kempenhaeghe, Dept Residential Care, Heeze, NetherlandsTeunissen, Mariel W. A.论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Acad Ctr Epileptol Kempenhaeghe, Maastricht, Netherlands Epilepsy Ctr Kempenhaeghe, Dept Residential Care, Heeze, NetherlandsRouhl, Rob P. W.论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Neurol, Maastricht, Netherlands Maastricht Univ, Med Ctr, Acad Ctr Epileptol Kempenhaeghe, Maastricht, Netherlands Maastricht Univ, Sch Mental Hlth & Neurosci, Maastricht, Netherlands Epilepsy Ctr Kempenhaeghe, Dept Residential Care, Heeze, NetherlandsTan, In Y.论文数: 0 引用数: 0 h-index: 0机构: Epilepsy Ctr Kempenhaeghe, Dept Residential Care, Heeze, Netherlands Epilepsy Ctr Kempenhaeghe, Dept Residential Care, Heeze, NetherlandsYntema, Helger G.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Epilepsy Ctr Kempenhaeghe, Dept Residential Care, Heeze, NetherlandsBrunner, Han G.论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Human Genet, Maastricht, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Epilepsy Ctr Kempenhaeghe, Dept Residential Care, Heeze, NetherlandsPfundt, Rolph论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Epilepsy Ctr Kempenhaeghe, Dept Residential Care, Heeze, NetherlandsStegmann, Alexander P.论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Human Genet, Maastricht, Netherlands Epilepsy Ctr Kempenhaeghe, Dept Residential Care, Heeze, NetherlandsKamsteeg, Erik-Jan论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Epilepsy Ctr Kempenhaeghe, Dept Residential Care, Heeze, NetherlandsSchelhaas, Helenius J.论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Acad Ctr Epileptol Kempenhaeghe, Maastricht, Netherlands Epilepsy Ctr Kempenhaeghe, Dept Residential Care, Heeze, NetherlandsWillemsen, Marjolein H.论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Human Genet, Maastricht, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Epilepsy Ctr Kempenhaeghe, Dept Residential Care, Heeze, Netherlands
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M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, NetherlandsKleefstra, Tjitske论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, NetherlandsYntema, Helger G.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, NetherlandsKroes, Thessa论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, NetherlandsVulto-van Silfhout, Anneke T.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, NetherlandsKoolen, David A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlandsde Vries, Petra论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, NetherlandsGilissen, Christian论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlandsdel Rosario, Marisol论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, NetherlandsHoischen, Alexander论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, NetherlandsScheffer, Hans论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlandsde Vries, Bert B. A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, NetherlandsBrunner, Han G.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, NetherlandsVeltman, Joris A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, NetherlandsVissers, Lisenka E. L. 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