共 50 条
- [1] DIAGNOSTIC WHOLE EXOME SEQUENCING IN 100 INDIVIDUALS WITH BOTH EPILEPSY AND INTELLECTUAL DISABILITY[J]. EPILEPSIA, 2016, 57 : 119 - 119Snoeijen-Schouwenaars, F. M.论文数: 0 引用数: 0 h-index: 0机构: Kempenhaeghe, Acad Ctr Epileptol, Heeze, Netherlands Kempenhaeghe, Dept Residential Care, Sterksel, Netherlands Kempenhaeghe, Acad Ctr Epileptol, Heeze, Netherlandsvan Mierlo, P.论文数: 0 引用数: 0 h-index: 0机构: Kempenhaeghe, Acad Ctr Epileptol, Heeze, Netherlands Kempenhaeghe, Acad Ctr Epileptol, Heeze, NetherlandsVerhoeven, J.论文数: 0 引用数: 0 h-index: 0机构: Kempenhaeghe, Acad Ctr Epileptol, Heeze, Netherlands Kempenhaeghe, Acad Ctr Epileptol, Heeze, NetherlandsSmeets, E. J.论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Dept Human Genet, Med Ctr, Maastricht, Netherlands Kempenhaeghe, Acad Ctr Epileptol, Heeze, NetherlandsNicolai, J.论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Dept Neurol, Med Ctr, Maastricht, Netherlands Kempenhaeghe, Acad Ctr Epileptol, Heeze, NetherlandsKleefstra, T.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands Kempenhaeghe, Acad Ctr Epileptol, Heeze, NetherlandsRouhl, R.论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Dept Neurol, Med Ctr, Maastricht, Netherlands Kempenhaeghe, Acad Ctr Epileptol, Heeze, NetherlandsTan, I. Y.论文数: 0 引用数: 0 h-index: 0机构: Kempenhaeghe, Dept Residential Care, Sterksel, Netherlands Kempenhaeghe, Acad Ctr Epileptol, Heeze, NetherlandsYntema, H. G.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands Kempenhaeghe, Acad Ctr Epileptol, Heeze, NetherlandsKamsteeg, E. J.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands Kempenhaeghe, Acad Ctr Epileptol, Heeze, NetherlandsSchelhaas, H. J.论文数: 0 引用数: 0 h-index: 0机构: Kempenhaeghe, Acad Ctr Epileptol, Heeze, Netherlands Kempenhaeghe, Acad Ctr Epileptol, Heeze, NetherlandsWillemsen, M. H.论文数: 0 引用数: 0 h-index: 0机构: Kempenhaeghe, Acad Ctr Epileptol, Heeze, Netherlands Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands Kempenhaeghe, Acad Ctr Epileptol, Heeze, Netherlands
- [2] 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
- [3] Diagnostic yield of exome sequencing in patients with ultra-refractory epilepsy without intellectual disability[J]. EPILEPSIA, 2021, 62 : 218 - 218Doyle, Michael论文数: 0 引用数: 0 h-index: 0机构: Royal Coll Surg Ireland Collaborat Blackrock Clin, StAR MD Programme, Dublin, Ireland Royal Coll Surgeons Ireland, FutureNeuro SFI Res Ctr, Dublin, Ireland Beaumont Hosp, Dept Neurol, Epilepsy Programme, Dublin, Ireland Royal Coll Surg Ireland Collaborat Blackrock Clin, StAR MD Programme, Dublin, IrelandBenson, Katherine论文数: 0 引用数: 0 h-index: 0机构: Royal Coll Surgeons Ireland, FutureNeuro SFI Res Ctr, Dublin, Ireland Royal Coll Surg Ireland Collaborat Blackrock Clin, StAR MD Programme, Dublin, IrelandMoloney, Patrick B.论文数: 0 引用数: 0 h-index: 0机构: Royal Coll Surg Ireland Collaborat Blackrock Clin, StAR MD Programme, Dublin, Ireland Royal Coll Surgeons Ireland, FutureNeuro SFI Res Ctr, Dublin, Ireland Beaumont Hosp, Dept Neurol, Epilepsy Programme, Dublin, Ireland Royal Coll Surg Ireland Collaborat Blackrock Clin, StAR MD Programme, Dublin, IrelandCarton, Robert论文数: 0 引用数: 0 h-index: 0机构: Royal Coll Surgeons Ireland, FutureNeuro SFI Res Ctr, Dublin, Ireland Royal Coll Surg Ireland Collaborat Blackrock Clin, StAR MD Programme, Dublin, IrelandKearney, Hugh论文数: 0 引用数: 0 h-index: 0机构: Royal Coll Surgeons Ireland, FutureNeuro SFI Res Ctr, Dublin, Ireland Beaumont Hosp, Dept Neurol, Epilepsy Programme, Dublin, Ireland Royal Coll Surg Ireland Collaborat Blackrock Clin, StAR MD Programme, Dublin, IrelandEl-Naggar, Hany论文数: 0 引用数: 0 h-index: 0机构: Royal Coll Surgeons Ireland, FutureNeuro SFI Res Ctr, Dublin, Ireland Beaumont Hosp, Dept Neurol, Epilepsy Programme, Dublin, Ireland Royal Coll Surg Ireland Collaborat Blackrock Clin, StAR MD Programme, Dublin, IrelandWiddess-Walsh, Peter论文数: 0 引用数: 0 h-index: 0机构: Beaumont Hosp, Dept Neurol, Epilepsy Programme, Dublin, Ireland Royal Coll Surg Ireland Collaborat Blackrock Clin, StAR MD Programme, Dublin, IrelandCavalleri, Gianpiero L.论文数: 0 引用数: 0 h-index: 0机构: Royal Coll Surgeons Ireland, FutureNeuro SFI Res Ctr, Dublin, Ireland Royal Coll Phys Ireland, Sch Pharm & Biomol Sci, Dublin, Ireland Royal Coll Surg Ireland Collaborat Blackrock Clin, StAR MD Programme, Dublin, IrelandDelanty, Norman论文数: 0 引用数: 0 h-index: 0机构: Royal Coll Surgeons Ireland, FutureNeuro SFI Res Ctr, Dublin, Ireland Beaumont Hosp, Dept Neurol, Epilepsy Programme, Dublin, Ireland Royal Coll Phys Ireland, Sch Pharm & Biomol Sci, Dublin, Ireland Royal Coll Surg Ireland Collaborat Blackrock Clin, StAR MD Programme, Dublin, Ireland
- [4] Diagnostic yield of exome sequencing in patients with ultra-refractory epilepsy without intellectual disability[J]. IRISH JOURNAL OF MEDICAL SCIENCE, 2022, 191 (SUPPL 3) : S72 - S72Doyle, Michael论文数: 0 引用数: 0 h-index: 0机构: Beaumont Hosp, Dublin, Ireland Future Neuro SFI Res Ctr, Dublin, Ireland Royal Coll Surgeons Ireland, Dublin, Ireland Beaumont Hosp, Dublin, IrelandBenson, Katherine论文数: 0 引用数: 0 h-index: 0机构: Future Neuro SFI Res Ctr, Dublin, Ireland Royal Coll Surgeons Ireland, Dublin, Ireland Beaumont Hosp, Dublin, IrelandMoloney, Patrick论文数: 0 引用数: 0 h-index: 0机构: Beaumont Hosp, Dublin, Ireland Future Neuro SFI Res Ctr, Dublin, Ireland Royal Coll Surgeons Ireland, Dublin, Ireland Beaumont Hosp, Dublin, IrelandCarton, Robert论文数: 0 引用数: 0 h-index: 0机构: Future Neuro SFI Res Ctr, Dublin, Ireland Royal Coll Surgeons Ireland, Dublin, Ireland Beaumont Hosp, Dublin, IrelandKearney, Hugh论文数: 0 引用数: 0 h-index: 0机构: Beaumont Hosp, Dublin, Ireland Future Neuro SFI Res Ctr, Dublin, Ireland Royal Coll Surgeons Ireland, Dublin, Ireland Beaumont Hosp, Dublin, IrelandEl Naggar, Hany论文数: 0 引用数: 0 h-index: 0机构: Beaumont Hosp, Dublin, Ireland Beaumont Hosp, Dublin, IrelandWiddess-Walsh, Peter论文数: 0 引用数: 0 h-index: 0机构: Beaumont Hosp, Dublin, Ireland Beaumont Hosp, Dublin, IrelandCavalleri, Gianpiero论文数: 0 引用数: 0 h-index: 0机构: Future Neuro SFI Res Ctr, Dublin, Ireland Royal Coll Surgeons Ireland, Dublin, Ireland Beaumont Hosp, Dublin, IrelandDelanty, Norman论文数: 0 引用数: 0 h-index: 0机构: Beaumont Hosp, Dublin, Ireland Future Neuro SFI Res Ctr, Dublin, Ireland Royal Coll Surgeons Ireland, Dublin, Ireland Beaumont Hosp, Dublin, Ireland
- [5] 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
- [6] Exome sequencing of 100 patients with intellectual disability[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1390 - 1391Levchenko, O.论文数: 0 引用数: 0 h-index: 0机构: Med Genet Res Ctr, Moscow, Russia Med Genet Res Ctr, Moscow, RussiaDadali, E.论文数: 0 引用数: 0 h-index: 0机构: Med Genet Res Ctr, Moscow, Russia Pirogov Russian Natl Res Med Univ, Dept Mol & Cellular Genet, Biomed Fac, Moscow, Russia Med Genet Res Ctr, Moscow, RussiaBessonova, L.论文数: 0 引用数: 0 h-index: 0机构: Med Genet Res Ctr, Moscow, Russia Med Genet Res Ctr, Moscow, RussiaDemina, N.论文数: 0 引用数: 0 h-index: 0机构: Med Genet Res Ctr, Moscow, Russia Med Genet Res Ctr, Moscow, RussiaRudenskaya, G.论文数: 0 引用数: 0 h-index: 0机构: Med Genet Res Ctr, Moscow, Russia Med Genet Res Ctr, Moscow, RussiaMatyushchenko, G.论文数: 0 引用数: 0 h-index: 0机构: Med Genet Res Ctr, Moscow, Russia Med Genet Res Ctr, Moscow, RussiaMarkova, T.论文数: 0 引用数: 0 h-index: 0机构: Med Genet Res Ctr, Moscow, Russia Med Genet Res Ctr, Moscow, RussiaAnisimova, I.论文数: 0 引用数: 0 h-index: 0机构: Med Genet Res Ctr, Moscow, Russia Med Genet Res Ctr, Moscow, RussiaSemenova, N.论文数: 0 引用数: 0 h-index: 0机构: Med Genet Res Ctr, Moscow, Russia Med Genet Res Ctr, Moscow, RussiaSchagina, O.论文数: 0 引用数: 0 h-index: 0机构: Med Genet Res Ctr, Moscow, Russia Med Genet Res Ctr, Moscow, RussiaRyzhkova, O.论文数: 0 引用数: 0 h-index: 0机构: Med Genet Res Ctr, Moscow, Russia Med Genet Res Ctr, Moscow, RussiaZinchenko, R.论文数: 0 引用数: 0 h-index: 0机构: Med Genet Res Ctr, Moscow, Russia Pirogov Russian Natl Res Med Univ, Dept Mol & Cellular Genet, Biomed Fac, Moscow, Russia Med Genet Res Ctr, Moscow, RussiaGalkina, V.论文数: 0 引用数: 0 h-index: 0机构: Med Genet Res Ctr, Moscow, Russia Med Genet Res Ctr, Moscow, RussiaVoinova, V.论文数: 0 引用数: 0 h-index: 0机构: Pirogov Russian Natl Res Med Univ, Res & Clin Inst Pediat, Moscow, Russia Med Genet Res Ctr, Moscow, RussiaLavrov, A.论文数: 0 引用数: 0 h-index: 0机构: Med Genet Res Ctr, Moscow, Russia Pirogov Russian Natl Res Med Univ, Dept Mol & Cellular Genet, Biomed Fac, Moscow, Russia Med Genet Res Ctr, Moscow, Russia
- [7] Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability[J]. JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, 2021, 65 (06) : 577 - 588Taskiran, E. Z.论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Dept Med Genet, Fac Med, Ankara, Turkey Hacettepe Univ, Dept Med Genet, Fac Med, Ankara, TurkeyKaraosmanoglu, B.论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Dept Med Genet, Fac Med, Ankara, Turkey Hacettepe Univ, Dept Med Genet, Fac Med, Ankara, TurkeyKosukcu, C.论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Dept Med Genet, Fac Med, Ankara, Turkey Hacettepe Univ, Dept Med Genet, Fac Med, Ankara, TurkeyUrel-Demir, G.论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Fac Med, Dept Pediat Genet, Dept Pediat, TR-06100 Ankara, Turkey Hacettepe Univ, Dept Med Genet, Fac Med, Ankara, TurkeyAkgun-Dogan, O.论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Fac Med, Dept Pediat Genet, Dept Pediat, TR-06100 Ankara, Turkey Hacettepe Univ, Dept Med Genet, Fac Med, Ankara, TurkeySimsek-Kiper, P. o.论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Fac Med, Dept Pediat Genet, Dept Pediat, TR-06100 Ankara, Turkey Hacettepe Univ, Dept Med Genet, Fac Med, Ankara, TurkeyAlikasifoglu, M.论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Dept Med Genet, Fac Med, Ankara, Turkey Hacettepe Univ, Dept Med Genet, Fac Med, Ankara, TurkeyBoduroglu, K.论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Fac Med, Dept Pediat Genet, Dept Pediat, TR-06100 Ankara, Turkey Hacettepe Univ, Dept Med Genet, Fac Med, Ankara, TurkeyUtine, G. E.论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Fac Med, Dept Pediat Genet, Dept Pediat, TR-06100 Ankara, Turkey Hacettepe Univ, Dept Med Genet, Fac Med, Ankara, Turkey
- [8] Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability[J]. NEW ENGLAND JOURNAL OF MEDICINE, 2012, 367 (20): : 1921 - 1929de Ligt, Joep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, NetherlandsWillemsen, Marjolein H.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, Netherlandsvan Bon, Bregje W. 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. 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, Netherlands
- [9] The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing[J]. BMC MEDICAL GENOMICS, 2020, 13 (01)Wang, Jun论文数: 0 引用数: 0 h-index: 0机构: Capital Inst Pediat, Affiliated Childrens Hosp, Dept Neurol, Beijing 100020, Peoples R China Capital Inst Pediat, Affiliated Childrens Hosp, Dept Neurol, Beijing 100020, Peoples R ChinaWang, Yan论文数: 0 引用数: 0 h-index: 0机构: Capital Inst Pediat, Affiliated Childrens Hosp, Dept Neurol, Beijing 100020, Peoples R China Capital Inst Pediat, Affiliated Childrens Hosp, Dept Neurol, Beijing 100020, Peoples R ChinaWang, Liwen论文数: 0 引用数: 0 h-index: 0机构: Capital Inst Pediat, Affiliated Childrens Hosp, Dept Neurol, Beijing 100020, Peoples R China Capital Inst Pediat, Affiliated Childrens Hosp, Dept Neurol, Beijing 100020, Peoples R ChinaChen, Wang Yang论文数: 0 引用数: 0 h-index: 0机构: Kaiumph Med Diagnost Co Ltd, Beijing 100102, Peoples R China Capital Inst Pediat, Affiliated Childrens Hosp, Dept Neurol, Beijing 100020, Peoples R ChinaSheng, Min论文数: 0 引用数: 0 h-index: 0机构: Kaiumph Med Diagnost Co Ltd, Beijing 100102, Peoples R China Capital Inst Pediat, Affiliated Childrens Hosp, Dept Neurol, Beijing 100020, Peoples R China
- [10] The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing[J]. BMC Medical Genomics, 13Jun Wang论文数: 0 引用数: 0 h-index: 0机构: Affiliated Children’s Hospital of Capital Institute of Pediatrics,Department of NeurologyYan Wang论文数: 0 引用数: 0 h-index: 0机构: Affiliated Children’s Hospital of Capital Institute of Pediatrics,Department of NeurologyLiwen Wang论文数: 0 引用数: 0 h-index: 0机构: Affiliated Children’s Hospital of Capital Institute of Pediatrics,Department of NeurologyWang Yang Chen论文数: 0 引用数: 0 h-index: 0机构: Affiliated Children’s Hospital of Capital Institute of Pediatrics,Department of NeurologyMin Sheng论文数: 0 引用数: 0 h-index: 0机构: Affiliated Children’s Hospital of Capital Institute of Pediatrics,Department of Neurology