학술논문
'학술논문'
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Academic Journal
Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R.; Zhou, Yijing; Bosch, Danielle G. M.; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K.; Perez-Jurado, Luis A.; Aznar-Lain, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Pourova, Radka Kremlikova; Sedlacek, Zdenek; Keena, Beth A.; March, Michael E.; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J.; Harr, Margaret H.; Lemire, Gabrielle; Boycott, Kym M.; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J.; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J.; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B.; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M.; Motazacker, Mahdi M.; Martinez-Agosto, Julian A.; Rabani, Ahna M.; McCormick, Elizabeth M.; Falk, Marni J.; Ruggiero, Sarah M.; Helbig, Ingo; Moller, Rikke S.; Tessarollo, Lino; Ardori, Francesco Tomassoni; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M.; Ganapathi, Mythily; Gelb, Bruce D.; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sebastien; Jizi, Khadije; Bruel, Ange-Line; Quelin, Chloe; Misra, Vinod K.; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gokhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna C. E.; Thompson, Michelle L.; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C.; Shashi, Vandana; Higginbotham, Edward J.; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoit; Mau-Them, Frederic Tran; Moya, Luis Fernandez Garcia; Garcia-Minaur, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O.; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlene; Habdallah, Hamza Hadj; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Veronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K.; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert B. A.; van Slegtenhorst, Marjon A.; Brooks, Alice S.; Cogne, Benjamin; Rambaud, Thomas; Tumer, Zeynep; Zackai, Elaine H.; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon
Awamleh Z; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON, M5G 1×8, Canada.; Choufani S; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON, M5G 1×8, Canada.; Wu W; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON, M5G 1×8, Canada.; Rots D; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands.; Dingemans AJM; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands.; Nadif Kasri N; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands.; Boronat S; Department of Pediatrics, Hospital del Santa Creu y Sant Pau, Barcelona, Spain.; Ibañez-Mico S; Department of Pediatric Neurology, Hospital Virgen de la Arrixaca, Murcia, Madrid, Spain.; Cuesta Herraiz L; Department of Pediatric Neurology, Hospital de Manises, Valencia, Spain.; Ferrer I; Department of Genetics, Consorcio Hospital General de Valencia, Valencia, Spain.; Martínez Carrascal A; Department of Pediatrics, Hospital de Requena, Valencia, Spain.; Pérez-Jurado LA; Genetics Unit, Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM) and CIBERER, Barcelona, Spain.; Aznar Lain G; Genetics Unit, Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM) and CIBERER, Barcelona, Spain.; Ortigoza-Escobar JD; Movement Disorders Unit, Institut de Recerca Sant Joan de Déu, CIBERER-ISCIII and European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; de Vries BBA; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands.; Koolen DA; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands. david.koolen@radboudumc.nl.; Weksberg R; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON, M5G 1×8, Canada. rweksb@sickkids.ca.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, the Hospital for Sick Children, University of Toronto, Toronto, ON, M5G 1×8, Canada. rweksb@sickkids.ca.
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: PubMed not MEDLINE; MEDLINE
Academic Journal
Awamleh Z; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON, M5G 1×8, Canada.; Choufani S; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON, M5G 1×8, Canada.; Wu W; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON, M5G 1×8, Canada.; Rots D; Department of Human Genetics, Radboud university medical center, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands.; Dingemans AJM; Department of Human Genetics, Radboud university medical center, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands.; Nadif Kasri N; Department of Human Genetics, Radboud university medical center, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands.; Boronat S; Department of Pediatrics, Hospital del Santa Creu y Sant Pau, Barcelona, Spain.; Ibañez-Mico S; Department of Pediatric Neurology, Hospital Virgen de la Arrixaca, Murcia, Madrid, Spain.; Cuesta Herraiz L; Department of Pediatric Neurology, Hospital de Manises, Valencia, Spain.; Ferrer I; Department of Genetics, Consorcio Hospital General de Valencia, Valencia, Spain.; Martínez Carrascal A; Department of Pediatrics, Hospital de Requena, Valencia, Spain.; Pérez-Jurado LA; Genetics Unit, Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM) and CIBERER, Barcelona, Spain.; Aznar Lain G; Genetics Unit, Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM) and CIBERER, Barcelona, Spain.; Ortigoza-Escobar JD; Movement Disorders Unit, Institut de Recerca Sant Joan de Déu, CIBERER-ISCIII and European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; de Vries BBA; Department of Human Genetics, Radboud university medical center, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands.; Koolen DA; Department of Human Genetics, Radboud university medical center, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands. david.koolen@radboudumc.nl.; Weksberg R; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON, M5G 1×8, Canada. rweksb@sickkids.ca.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, the Hospital for Sick Children, University of Toronto, Toronto, ON, M5G 1×8, Canada. rweksb@sickkids.ca.
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Academic Journal
Aznar-Lain, Gemma; Fernandez-Mayoralas, Daniel M.; Caicoya, Anne G.; Rocamora, Rodrigo; Perez-Jurado, Luis A.
Academic Journal
Neurología, Vol 35, Iss 5, Pp 340-341 (2020)
Academic Journal
Neurología (English Edition), Vol 35, Iss 5, Pp 340-341 (2020)
Academic Journal
De Giorgis, V.; Pasca, L.; Varesio, C.; Aznar-Lain, G.; Bibic, I.; Bibic, V.; Darra, F.; Dianin, A.; Dressler, A.; Jonsson, H.; Komulainen-Ebrahim, J.; Kverneland, M.; Molteberg, E.; Ragona, F.; de Saint-Martin, A.; Cross, J.H.; Baumgartner, T.; Bjellvi, J.; Brunklaus, A.; Buttle, J.; Pereira, C.D.; Fonseca Samões, A.R.; Freri, E.; Guglielmetti, M.; Hallböök, T.; Karandiene, J.; Kotulska, K.; Lo Barco, T.; Malenica, M.; Messana, T.; Neubauer, D.; Eleni, P.; Papadopoulou, M.; Quintas, S.; Volpi, L.; TrimmelSchwahofer, P.; Ruiz, S.G.-R.
In: Epilepsia Open . (Epilepsia Open, 2024)
Academic Journal
Estévez-Arias, B.; Yépez, V.; Ortez, C.; Carrera-Garcia, L.; Exposito-Escudero, J.; Codina, A.; Aznar-Lain, G.; Diaz, A.; Jou, C.; Nascimento, A.; De Benito, D Natera
In Neuromuscular Disorders October 2023 33 Supplement 1:S125-S125
Academic Journal
In Neurología (English Edition) June 2020 35(5):340-341
Academic Journal
Estevez-Arias, B.; Yepez, V.; Ortez, C.; Carrera-Garcia, L.; Exposito-Escudero, J.; Codina, A.; Aznar-Lain, G.; Diaz, A.; Jou, C.; Nascimento, A.; De Benito, D. Natera
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