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- [2] Protocadherin 19 mutations in girls with infantile-onset epilepsy[J]. NEUROLOGY, 2010, 75 (07) : 646 - 653Marini, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Pediat Hosp A Meyer, Child Neurol Unit, Florence, Italy Univ Florence, Pediat Hosp A Meyer, Child Neurol Unit, Florence, ItalyMei, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Pediat Hosp A Meyer, Child Neurol Unit, Florence, Italy Univ Florence, Pediat Hosp A Meyer, Child Neurol Unit, Florence, ItalyParmeggiani, L.论文数: 0 引用数: 0 h-index: 0机构: Serv Neuropsichiat Infantile, Bolzano, Italy Univ Florence, Pediat Hosp A Meyer, Child Neurol Unit, Florence, ItalyNorci, V.论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Pediat Hosp A Meyer, Child Neurol Unit, Florence, Italy Univ Florence, Pediat Hosp A Meyer, Child Neurol Unit, Florence, ItalyCalado, E.论文数: 0 引用数: 0 h-index: 0机构: Hosp Dona Estefania, Paediat Neurol Unit, Lisbon, Portugal Univ Florence, Pediat Hosp A Meyer, Child Neurol Unit, Florence, ItalyFerrari, A.论文数: 0 引用数: 0 h-index: 0机构: Fdn Stella Maris, IRCCS, Child Neurol & Psychiat Unit, Calambrone Pisa, Italy Univ Florence, Pediat Hosp A Meyer, Child Neurol Unit, Florence, ItalyMoreira, A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Dona Estefania, Paediat Neurol Unit, Lisbon, Portugal Univ Florence, Pediat Hosp A Meyer, Child Neurol Unit, Florence, ItalyPisano, T.论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Pediat Hosp A Meyer, Child Neurol Unit, Florence, Italy Univ Florence, Pediat Hosp A Meyer, Child Neurol Unit, Florence, ItalySpecchio, N.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Bambino Gesu, Neurol Unit, Rome, Italy Univ Florence, Pediat Hosp A Meyer, Child Neurol Unit, Florence, ItalyVigevano, F.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Bambino Gesu, Neurol Unit, Rome, Italy Univ Florence, Pediat Hosp A Meyer, Child Neurol Unit, Florence, ItalyBattaglia, D.论文数: 0 引用数: 0 h-index: 0机构: Catholic Univ, Pediat Neurol Unit, Rome, Italy Univ Florence, Pediat Hosp A Meyer, Child Neurol Unit, Florence, Italy论文数: 引用数: h-index:机构:
- [3] PROTOCADHERIN 19 MUTATIONS IN GIRLS WITH INFANTILE-ONSET EPILEPSY Reply from the Authors[J]. NEUROLOGY, 2011, 76 (13) : 1194 - 1194Marini, Carla论文数: 0 引用数: 0 h-index: 0Guerrini, Renzo论文数: 0 引用数: 0 h-index: 0
- [4] De novo mutations in epilepsy[J]. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2011, 53 (09): : 806 - 807论文数: 引用数: h-index:机构:Matsumoto, Naomichi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 232, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 232, Japan
- [5] De Novo Mutations in YWHAG Cause Early-Onset Epilepsy[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2017, 101 (02) : 300 - 310Guella, Ilaria论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Ctr Appl Neurogenet, Vancouver, BC V5R 6H8, Canada Univ British Columbia, Ctr Appl Neurogenet, Vancouver, BC V5R 6H8, CanadaMcKenzie, Marna B.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Ctr Appl Neurogenet, Vancouver, BC V5R 6H8, Canada Univ British Columbia, Ctr Appl Neurogenet, Vancouver, BC V5R 6H8, CanadaEvans, Daniel M.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Ctr Appl Neurogenet, Vancouver, BC V5R 6H8, Canada Univ British Columbia, Ctr Appl Neurogenet, Vancouver, BC V5R 6H8, CanadaBuerki, Sarah E.论文数: 0 引用数: 0 h-index: 0机构: Inselspital Bern, Univ Childrens Hosp, Dept Neuropediat Dev & Rehabil, CH-3010 Bern, Switzerland Univ British Columbia, Ctr Appl Neurogenet, Vancouver, BC V5R 6H8, CanadaToyota, Eric B.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Pediat, Div Neurol, Vancouver, BC V6H 3V4, Canada British Columbia Childrens Hosp, Vancouver, BC V6H 3V4, Canada Univ British Columbia, Ctr Appl Neurogenet, Vancouver, BC V5R 6H8, CanadaVan Allen, Margot I.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, Canada Univ British Columbia, Ctr Appl Neurogenet, Vancouver, BC V5R 6H8, CanadaSuri, Mohnish论文数: 0 引用数: 0 h-index: 0机构: Nottingham Univ Hosp NHS Trust, Reg Clin Genet Serv, Nottingham NG5 1PB, England Univ British Columbia, Ctr Appl Neurogenet, Vancouver, BC V5R 6H8, CanadaElmslie, Frances论文数: 0 引用数: 0 h-index: 0机构: St Georges Univ Hosp NHS Fdn Trust, South West Thames Reg Genet Serv, London SW17 0QT, England Univ British Columbia, Ctr Appl Neurogenet, Vancouver, BC V5R 6H8, CanadaSimon, Marleen E. H.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, Netherlands Univ British Columbia, Ctr Appl Neurogenet, Vancouver, BC V5R 6H8, Canadavan Gassen, Koen L. I.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, Netherlands Univ British Columbia, Ctr Appl Neurogenet, Vancouver, BC V5R 6H8, CanadaHeron, Delphine论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Dept Genet, F-75651 Paris, France Hop La Pitie Salpetriere, AP HP, Ctr Reference Deficiences Intellectuelles Causes, F-75651 Paris, France Univ British Columbia, Ctr Appl Neurogenet, Vancouver, BC V5R 6H8, CanadaKeren, Boris论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Dept Genet, F-75651 Paris, France Hop La Pitie Salpetriere, AP HP, Ctr Reference Deficiences Intellectuelles Causes, F-75651 Paris, France Univ British Columbia, Ctr Appl Neurogenet, Vancouver, BC V5R 6H8, CanadaNava, Caroline论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Dept Genet, F-75651 Paris, France Hop La Pitie Salpetriere, AP HP, Ctr Reference Deficiences Intellectuelles Causes, F-75651 Paris, France Univ British Columbia, Ctr Appl Neurogenet, Vancouver, BC V5R 6H8, CanadaConnolly, Mary B.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Pediat, Div Neurol, Vancouver, BC V6H 3V4, Canada British Columbia Childrens Hosp, Vancouver, BC V6H 3V4, Canada Univ British Columbia, Ctr Appl Neurogenet, Vancouver, BC V5R 6H8, CanadaDemos, Michelle论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Pediat, Div Neurol, Vancouver, BC V6H 3V4, Canada British Columbia Childrens Hosp, Vancouver, BC V6H 3V4, Canada Univ British Columbia, Ctr Appl Neurogenet, Vancouver, BC V5R 6H8, CanadaFarrer, Matthew J.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Ctr Appl Neurogenet, Vancouver, BC V5R 6H8, Canada Univ British Columbia, Ctr Appl Neurogenet, Vancouver, BC V5R 6H8, Canada
- [6] Novel and de novo mutation of PCDH19 in Girls Clustering Epilepsy[J]. BRAIN AND BEHAVIOR, 2019, 9 (12):论文数: 引用数: h-index:机构:Liu, Jing论文数: 0 引用数: 0 h-index: 0机构: Shandong Univ, Qilu Hosp, Dept Pediat, 107 Cultural West Rd, Jinan 250012, Shandong, Peoples R China Shandong Univ, Qilu Hosp, Dept Pediat, 107 Cultural West Rd, Jinan 250012, Shandong, Peoples R ChinaSu, Quanping论文数: 0 引用数: 0 h-index: 0机构: Shandong Univ, Linyi Peoples Hosp, Cent Lab, Linyi, Shandong, Peoples R China Shandong Univ, Qilu Hosp, Dept Pediat, 107 Cultural West Rd, Jinan 250012, Shandong, Peoples R China论文数: 引用数: h-index:机构:Yang, Xiaofan论文数: 0 引用数: 0 h-index: 0机构: Shandong Univ, Qilu Hosp, Dept Pediat, 107 Cultural West Rd, Jinan 250012, Shandong, Peoples R China Shandong Univ, Qilu Hosp, Dept Pediat, 107 Cultural West Rd, Jinan 250012, Shandong, Peoples R ChinaXu, Liyun论文数: 0 引用数: 0 h-index: 0机构: Shandong Univ, Linyi Peoples Hosp, Dept Pediat, Linyi, Shandong, Peoples R China Shandong Univ, Qilu Hosp, Dept Pediat, 107 Cultural West Rd, Jinan 250012, Shandong, Peoples R ChinaTong, Lili论文数: 0 引用数: 0 h-index: 0机构: Shandong Univ, Qilu Hosp, Dept Pediat, 107 Cultural West Rd, Jinan 250012, Shandong, Peoples R China Shandong Univ, Qilu Hosp, Dept Pediat, 107 Cultural West Rd, Jinan 250012, Shandong, Peoples R ChinaLi, Baomin论文数: 0 引用数: 0 h-index: 0机构: Shandong Univ, Qilu Hosp, Dept Pediat, 107 Cultural West Rd, Jinan 250012, Shandong, Peoples R China Shandong Univ, Qilu Hosp, Dept Pediat, 107 Cultural West Rd, Jinan 250012, Shandong, Peoples R China
- [7] INFANTILE ONSET FOCAL EPILEPSY AND EPILEPTIC ENCEPHALOPATHIES ASSOCIATED WITH PCDH19 GENE MUTATIONS: NEW DE NOVO AND FAMILIAL MUTATIONS[J]. EPILEPSIA, 2010, 51 : 1 - 1Marini, C.论文数: 0 引用数: 0 h-index: 0机构: Pediat Hosp A Meyer, Neurol Unit, Florence, Italy Pediat Hosp A Meyer, Neurol Unit, Florence, ItalyMei, D.论文数: 0 引用数: 0 h-index: 0机构: Pediat Hosp A Meyer, Neurol Unit, Florence, Italy Pediat Hosp A Meyer, Neurol Unit, Florence, ItalyParmeggiani, L.论文数: 0 引用数: 0 h-index: 0机构: Azienda Sanitaria Bolzano, Servizio Interaziendale Neuropsichiat Infantil Ad, Bolzano, Italy Pediat Hosp A Meyer, Neurol Unit, Florence, ItalyNorci, V论文数: 0 引用数: 0 h-index: 0机构: Pediat Hosp A Meyer, Neurol Unit, Florence, Italy Pediat Hosp A Meyer, Neurol Unit, Florence, ItalyCalado, E.论文数: 0 引用数: 0 h-index: 0机构: Hosp Dona Estefania, Pediat Neurol Unit, Lisbon, Portugal Pediat Hosp A Meyer, Neurol Unit, Florence, ItalyMoreira, A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Dona Estefania, Pediat Neurol Unit, Lisbon, Portugal Pediat Hosp A Meyer, Neurol Unit, Florence, ItalyFerrari, A.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Fdn Stella Maris, Neurol & Psychiat Unit, Pisa, Italy Pediat Hosp A Meyer, Neurol Unit, Florence, ItalyPisano, T.论文数: 0 引用数: 0 h-index: 0机构: Pediat Hosp A Meyer, Neurol Unit, Florence, Italy Pediat Hosp A Meyer, Neurol Unit, Florence, ItalyBattaglia, D.论文数: 0 引用数: 0 h-index: 0机构: Policlin Univ Gemelli, Rome, Italy Pediat Hosp A Meyer, Neurol Unit, Florence, Italy论文数: 引用数: h-index:机构:
- [8] Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations[J]. EPILEPSIA, 2011, 52 (07) : 1251 - 1257Specchio, Nicola论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Div Neurol, Neurol Unit, Dept Neurosci,IRCCS, I-00165 Rome, Italy Bambino Gesu Pediat Hosp, Div Neurol, Neurol Unit, Dept Neurosci,IRCCS, I-00165 Rome, ItalyMarini, Carla论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Pediat Hosp A Meyer, Child Neurol Unit & Labs, Florence, Italy Bambino Gesu Pediat Hosp, Div Neurol, Neurol Unit, Dept Neurosci,IRCCS, I-00165 Rome, ItalyTerracciano, Alessandra论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, IRCCS, Unit Mol Med Neuromuscular & Neurodegenerat Dis, Dept Neurosci, I-00165 Rome, Italy Bambino Gesu Pediat Hosp, Div Neurol, Neurol Unit, Dept Neurosci,IRCCS, I-00165 Rome, ItalyMei, Davide论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Pediat Hosp A Meyer, Child Neurol Unit & Labs, Florence, Italy Bambino Gesu Pediat Hosp, Div Neurol, Neurol Unit, Dept Neurosci,IRCCS, I-00165 Rome, ItalyTrivisano, Marina论文数: 0 引用数: 0 h-index: 0机构: Univ Foggia, Clin Nervous Syst Dis, Foggia, Italy Bambino Gesu Pediat Hosp, Div Neurol, Neurol Unit, Dept Neurosci,IRCCS, I-00165 Rome, ItalySicca, Federico论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris, Child Neurol & Psychiat Unit, Pisa, Italy Bambino Gesu Pediat Hosp, Div Neurol, Neurol Unit, Dept Neurosci,IRCCS, I-00165 Rome, ItalyFusco, Lucia论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Div Neurol, Neurol Unit, Dept Neurosci,IRCCS, I-00165 Rome, ItalyCusmai, Raffaella论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Div Neurol, Neurol Unit, Dept Neurosci,IRCCS, I-00165 Rome, Italy论文数: 引用数: h-index:机构:Dalla Bernardina, Bernardo论文数: 0 引用数: 0 h-index: 0机构: Univ Verona, Child Neuropsychiat Unit, I-37100 Verona, Italy Bambino Gesu Pediat Hosp, Div Neurol, Neurol Unit, Dept Neurosci,IRCCS, I-00165 Rome, ItalyBertini, Enrico论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, IRCCS, Unit Mol Med Neuromuscular & Neurodegenerat Dis, Dept Neurosci, I-00165 Rome, Italy Bambino Gesu Pediat Hosp, Div Neurol, Neurol Unit, Dept Neurosci,IRCCS, I-00165 Rome, Italy论文数: 引用数: h-index:机构:Vigevano, Federico论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Div Neurol, Neurol Unit, Dept Neurosci,IRCCS, I-00165 Rome, Italy
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