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1دورية أكاديميةUltra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
المؤلفون: Collaborative, Epi25, Feng, Yen-Chen Anne, Howrigan, Daniel P, Abbott, Liam E, Tashman, Katherine, Cerrato, Felecia, Singh, Tarjinder, Heyne, Henrike, Byrnes, Andrea, Churchhouse, Claire, Watts, Nick, Solomonson, Matthew, Lal, Dennis, Heinzen, Erin L, Dhindsa, Ryan S, Stanley, Kate E, Cavalleri, Gianpiero L, Hakonarson, Hakon, Helbig, Ingo, Krause, Roland, May, Patrick, Weckhuysen, Sarah, Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M, Cossette, Patrick, Cotsapas, Chris, De Jonghe, Peter, Dixon-Salazar, Tracy, Guerrini, Renzo, Kwan, Patrick, Marson, Anthony G, Stewart, Randy, Depondt, Chantal, Dlugos, Dennis J, Scheffer, Ingrid E, Striano, Pasquale, Freyer, Catharine, McKenna, Kevin, Regan, Brigid M, Bellows, Susannah T, Leu, Costin, Bennett, Caitlin A, Johns, Esther MC, Macdonald, Alexandra, Shilling, Hannah, Burgess, Rosemary, Weckhuysen, Dorien, Bahlo, Melanie, O’Brien, Terence J, Todaro, Marian, Stamberger, Hannah, Andrade, Danielle M, Sadoway, Tara R, Mo, Kelly, Krestel, Heinz, Gallati, Sabina, Papacostas, Savvas S, Kousiappa, Ioanna, Tanteles, George A, Štěrbová, Katalin, Vlčková, Markéta, Sedláčková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S, Knake, Susanne, Kunz, Wolfram S, Zsurka, Gábor, Elger, Christian E, Bauer, Jürgen, Rademacher, Michael, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, van Baalen, Andreas, von Spiczak, Sarah, Stephani, Ulrich, Afawi, Zaid, Korczyn, Amos D, Kanaan, Moien, Canavati, Christina, Kurlemann, Gerhard, Müller-Schlüter, Karen, Kluger, Gerhard, Häusler, Martin, Blatt, Ilan, Lemke, Johannes R, Krey, Ilona, Weber, Yvonne G, Wolking, Stefan, Becker, Felicitas, Hengsbach, Christian, Rau, Sarah, Maisch, Ana F, Steinhoff, Bernhard J, Schulze-Bonhage, Andreas, Schubert-Bast, Susanne, Schreiber, Herbert
المصدر: American Journal of Human Genetics. 105(2)
مصطلحات موضوعية: Clinical Research, Human Genome, Neurosciences, Epilepsy, Biotechnology, Genetics, Neurodegenerative, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Neurological, Case-Control Studies, DNA Mutational Analysis, Exome, Genetic Markers, Genetic Predisposition to Disease, Genetic Variation, Humans, Phenotype, Exome Sequencing, Epi25 Collaborative. Electronic address: s.berkovic@unimelb.edu.au, Epi25 Collaborative, burden analysis, epilepsy, epileptic encephalopathy, exome, seizures, sequencing, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/0wz3s560Test
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2دورية أكاديمية
المؤلفون: Myers, Candace T, Stong, Nicholas, Mountier, Emily I, Helbig, Katherine L, Freytag, Saskia, Sullivan, Joseph E, Ben Zeev, Bruria, Nissenkorn, Andreea, Tzadok, Michal, Heimer, Gali, Shinde, Deepali N, Rezazadeh, Arezoo, Regan, Brigid M, Oliver, Karen L, Ernst, Michelle E, Lippa, Natalie C, Mulhern, Maureen S, Ren, Zhong, Poduri, Annapurna, Andrade, Danielle M, Bird, Lynne M, Bahlo, Melanie, Berkovic, Samuel F, Lowenstein, Daniel H, Scheffer, Ingrid E, Sadleir, Lynette G, Goldstein, David B, Mefford, Heather C, Heinzen, Erin L
المصدر: American journal of human genetics. 101(4)
مصطلحات موضوعية: Humans, Epilepsy, Spasms, Infantile, Calcineurin, Severity of Illness Index, Cohort Studies, Sequence Analysis, DNA, Synaptic Transmission, Mutation, Adolescent, Adult, Child, Child, Preschool, Infant, Infant, Newborn, Female, Male, Young Adult, Exome, Lennox Gastaut Syndrome, Neurodevelopmental Disorders, PPP3CA, calcineurin, de novo mutation, developmental and epileptic encephalopathy, epilepsy, Brain Disorders, Neurodegenerative, Pediatric, Genetics, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Neurological, Good Health and Well Being, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/16r971fqTest
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3دورية أكاديمية
المؤلفون: Lowther, Chelsea, Costain, Gregory, Stavropoulos, Dimitri J, Melvin, Rebecca, Silversides, Candice K, Andrade, Danielle M, So, Joyce, Faghfoury, Hanna, Lionel, Anath C, Marshall, Christian R, Scherer, Stephen W, Bassett, Anne S
المصدر: Genetics in Medicine. 17(2)
مصطلحات موضوعية: Biological Sciences, Genetics, Schizophrenia, Behavioral and Social Science, Mental Health, Pediatric, Intellectual and Developmental Disabilities (IDD), Neurosciences, Epilepsy, Neurodegenerative, Brain Disorders, Autism, Aetiology, 2.1 Biological and endogenous factors, Adult, Aged, Chromosome Breakpoints, Chromosome Deletion, Chromosome Disorders, Chromosomes, Human, Pair 15, Cohort Studies, Female, Genetic Association Studies, Homozygote, Humans, Inheritance Patterns, Intellectual Disability, Male, Middle Aged, Pedigree, Phenotype, Placenta Previa, Pregnancy, Prevalence, Seizures, assortative mating, CHRNA7, KLF13, penetrance, TRPM1, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/0kr9p6kxTest