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1دورية أكاديمية
المؤلفون: Erin L Heinzen, Adam C O'Neill, Xiaolin Zhu, Andrew S Allen, Melanie Bahlo, Jamel Chelly, Ming Hui Chen, William B Dobyns, Saskia Freytag, Renzo Guerrini, Richard J Leventer, Annapurna Poduri, Stephen P Robertson, Christopher A Walsh, Mengqi Zhang, Epi4K Consortium, Epilepsy Phenome/Genome Project
المصدر: PLoS Genetics, Vol 14, Iss 5, p e1007281 (2018)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Koko, Mahmoud, Motelow, Joshua E, Stanley, Kate E, Bobbili, Dheeraj R, Dhindsa, Ryan S, May, Patrick, Canadian Epilepsy Network, Epi4K Consortium, Epilepsy Phenome/Genome Project, EpiPGX Consortium, EuroEPINOMICS-CoGIE Consortium
المصدر: Epilepsia. 63(3)
مصطلحات موضوعية: Canadian Epilepsy Network, Epi4K Consortium, Epilepsy Phenome/Genome Project, EpiPGX Consortium, EuroEPINOMICS-CoGIE Consortium, Humans, Epilepsy, Generalized, Genetic Predisposition to Disease, gamma-Aminobutyric Acid, Receptors, GABA-A, Case-Control Studies, Exome Sequencing, GABRG2, GABAA receptors, GGE, familial epilepsy, sporadic epilepsy, Human Genome, Genetics, Prevention, Clinical Research, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, GABA(A) receptors, GABRG2, Clinical Sciences, Neurology & Neurosurgery
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/41w3t8d2
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3دورية أكاديمية
المصدر: European journal of human genetics : EJHG. 25(7)
مصطلحات موضوعية: Epi4K Consortium, EuroEPINOMICS-RES Consortium, Epilepsy Phenome Genome Project, Humans, Spasms, Infantile, Genetic Predisposition to Disease, Gene Frequency, Linkage Disequilibrium, Polymorphism, Genetic, Infant, Genome-Wide Association Study, Lennox Gastaut Syndrome, Pediatric, Neurosciences, Genetics, Brain Disorders, Epilepsy, Neurodegenerative, Aetiology, 2.1 Biological and endogenous factors, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/82j6m40z
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4دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
5
المؤلفون: Allen, Andrew S., Berkovic, Samuel F., Bridgers, Joshua, Cossette, Patrick, Dlugos, Dennis, Epstein, Michael P., Glauser, Tracy, Goldstein, David B., Heinzen, Erin L., Jiang, Yu, Johnson, Michael R., Kuzniecky, Ruben, Lowenstein, Daniel H., Marson, Anthony G., Mefford, Heather C., O'Brien, Terence J., Ottman, Ruth, Petrou, Steven, Petrovski, Slavé, Poduri, Annapurna, Ren, Zhong, Scheffer, Ingrid E., Sherr, Elliott, Wang, Quanli, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna A., Klein, Karl Martin, Koeleman, Bobby, Komarek, Vladimir, Krause, Roland, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Møller, Rikke S., Muhle, Hiltrud, Pal, Deb, Epi4K Consortium, Epilepsy Phenome Genome Project, EuroEPINOMICS-RES Consortium
مصطلحات موضوعية: Multicenter Study, Genetics, Journal Article, Genetics(clinical)
وصف الملف: image/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_____10691::8d472801f9268703b4301b8cf8b12335
https://dspace.library.uu.nl/handle/1874/356607 -
6دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
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7
المصدر: American journal of human genetics, vol 95, iss 4
مصطلحات موضوعية: Male, Type I, Neurodegenerative, Infantile, Synaptic Transmission, Medical and Health Sciences, Spasms, Cohort Studies, Receptors, Genetics, Humans, 2.1 Biological and endogenous factors, Gene Regulatory Networks, Exome, Protein Interaction Maps, Aetiology, Dynamin I, Epi4K Consortium, Pediatric, Genetics & Heredity, Epilepsy, Lennox Gastaut Syndrome, GABA-B, Neurosciences, Infant, Ryanodine Receptor Calcium Release Channel, EuroEPINOMICS-RES Consortium, Biological Sciences, Newborn, Brain Disorders, Fatty Acid Synthase, Mutation, Female, Epilepsy Phenome/Genome Project
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______325::f3e8f36ae5e4e6e7ca5a92de71239c1e
https://escholarship.org/uc/item/4805b6c0 -
8مورد إلكتروني
المصدر: Annals of neurology; vol 78, iss 2, 323-328; 0364-5134
مصطلحات الفهرس: Epilepsy Phenome/Genome Project Epi4K Consortium, Humans, Spasms, Infantile, Cohort Studies, Sequence Analysis, DNA, Parents, Adult, Child, Preschool, Infant, Newborn, Female, Male, DNA Copy Number Variations, Exome, Lennox Gastaut Syndrome, Genetics, Clinical Research, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Human Genome, Pediatric, Neurodegenerative, Neurosciences, Epilepsy, 2.1 Biological and endogenous factors, Aetiology, Clinical Sciences, Neurology & Neurosurgery, article
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9دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
10دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.