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- [1] 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
- [2] 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
- [3] Reanalysis of whole exome sequencing data in patients with epilepsy and intellectual disability/mental retardation[J]. GENE, 2019, 700 : 168 - 175Li, Jinliang论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R China Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R ChinaGao, Kai论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R China Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R ChinaYan, Huifang论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R China Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R ChinaXiangwei, Wenshu论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R China Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R ChinaLiu, Nana论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R China Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R ChinaWang, Tianshuang论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R China Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R ChinaXu, Han论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R China Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R ChinaLin, Zehong论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R China Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R ChinaXie, Han论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R China Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R ChinaWang, Jingmin论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R China Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R ChinaWu, Ye论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R China Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R ChinaJiang, Yuwu论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R China Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R China
- [4] The benefits of whole exome sequencing data reanalysis in Intellectual disability[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1392 - 1392Fattahi, Z.论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranBabanejad, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranPeymani, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranBeheshtian, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranLarti, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranKahrizi, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranNajmabadi, H.论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran
- [5] 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
- [6] 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
- [7] Medical exome sequencing vs whole exome sequencing in the diagnosis of intellectual disability[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 228 - 228Nava, C.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, France UPMC, Grp Rech Clin GRC Deficience Intellectuelle & Aut, Paris, France UPMC Univ Paris 06, Sorbonne Univ, Inst Cerveau & Moelle Epiniere, CNRS,UMR 7225,INSERM,U1127,ICM, Paris, France Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, FranceKeren, B.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, France Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, FranceMignot, C.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, France UPMC, Grp Rech Clin GRC Deficience Intellectuelle & Aut, Paris, France Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, FranceJulien, B.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, France Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, FranceEstrade, C.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, France Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, FranceKaragic, S.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, France Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, FranceLafitte, A.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, France Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, FranceLejeune, E.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, France Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, FranceMach, C.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, France Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, FranceOlin, V.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, France Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, FranceCourtin, T.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, France Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, FranceAfenjar, A.论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, APHP, Dept Genet, Paris, France Hop La Pitie Salpetriere, Ctr Reference Deficiences Intellectuelles Causes, Paris, France Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, FranceDoummar, D.论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, APHP, Serv Neuropediat, Paris, France Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, FranceMoutard, M.论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, APHP, Serv Neuropediat, Paris, France Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, Francede Villemeur, T. Billette论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, APHP, Serv Neuropediat, Paris, France Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, FranceNougues, M.论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, APHP, Serv Neuropediat, Paris, France Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, FranceValence, S.论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, APHP, Serv Neuropediat, Paris, France Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, FranceHeron, B.论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, APHP, Serv Neuropediat, Paris, France Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, FranceRodriguez-Levi, D.论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, APHP, Serv Neuropediat, Paris, France Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, FranceBurglen, L.论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, APHP, Dept Genet, Paris, France Hop Armand Trousseau, Ctr Reference Malformat & Malad Congenit Cervelet, Paris, France Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, FranceWhalen, S.论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, APHP, Dept Genet, Paris, France Hop Armand Trousseau, Ctr Reference Malformat & Malad Congenit Cervelet, Paris, France Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, FranceHaye, D.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, France Hop La Pitie Salpetriere, Ctr Reference Deficiences Intellectuelles Causes, Paris, France Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, FranceHeide, S.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, France UPMC, Grp Rech Clin GRC Deficience Intellectuelle & Aut, Paris, France Hop La Pitie Salpetriere, Ctr Reference Deficiences Intellectuelles Causes, Paris, France Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, FranceCharles, P.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, France UPMC, Grp Rech Clin GRC Deficience Intellectuelle & Aut, Paris, France Hop La Pitie Salpetriere, Ctr Reference Deficiences Intellectuelles Causes, Paris, France Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, FranceMarey, I.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, France UPMC, Grp Rech Clin GRC Deficience Intellectuelle & Aut, Paris, France Hop La Pitie Salpetriere, Ctr Reference Deficiences Intellectuelles Causes, Paris, France Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, FranceDepienne, C.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, France UPMC Univ Paris 06, Sorbonne Univ, Inst Cerveau & Moelle Epiniere, CNRS,UMR 7225,INSERM,U1127,ICM, Paris, France Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, FranceHeron, D.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, France UPMC, Grp Rech Clin GRC Deficience Intellectuelle & Aut, Paris, France Hop La Pitie Salpetriere, Ctr Reference Deficiences Intellectuelles Causes, Paris, France Hop La Pitie Salpetriere, APHP, Dept Genet, Paris, France
- [8] 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
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