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1دورية أكاديمية
المؤلفون: Galer, Peter D, Ganesan, Shiva, Lewis-Smith, David, McKeown, Sarah E, Pendziwiat, Manuela, Helbig, Katherine L, Ellis, Colin A, Rademacher, Annika, Smith, Lacey, Poduri, Annapurna, Seiffert, Simone, von Spiczak, Sarah, Muhle, Hiltrud, van Baalen, Andreas, Group, NCEE Study, Investigators, EPGP, Consortium, EuroEPINOMICS-RES, Network, Genomics Research and Innovation, Thomas, Rhys H, Krause, Roland, Weber, Yvonne, Helbig, Ingo
المصدر: American Journal of Human Genetics. 107(4)
مصطلحات موضوعية: Biological Sciences, Genetics, Neurodegenerative, Epilepsy, Prevention, Neurosciences, Brain Disorders, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Child, Preschool, Cohort Studies, Female, GABA Plasma Membrane Transport Proteins, Gene Expression, Gene Ontology, Humans, Male, Munc18 Proteins, Mutation, NAV1.1 Voltage-Gated Sodium Channel, Phenotype, Seizures, Semantics, Shab Potassium Channels, Spasms, Infantile, Speech Disorders, Terminology as Topic, Exome Sequencing, NCEE Study Group, EPGP Investigators, EuroEPINOMICS-RES Consortium, Genomics Research and Innovation Network, Human Phenotype Ontology, childhood epilepsies, computational phenotypes, developmental and epileptic encephalopathies, electronic medical records, neurogenetic disorders, whole-exome sequencing, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/1jp636w4
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2دورية 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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3دورية أكاديمية
المؤلفون: Appenzeller, Silke, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Dimova, Petia, Djémié, Tania, Gormley, Padhraig, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna, Klein, Karl Martin, Koeleman, Bobby, Komarek, Vladimir, Krause, Roland, Kuhlenbäumer, Gregor, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R, Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Møller, Rikke S, Muhle, Hiltrud, Pal, Deb, Palotie, Aarno, Pendziwiat, Manuela, Robbiano, Angela, Roelens, Filip, Rosenow, Felix, Selmer, Kaja, Serratosa, Jose M, Sisodiya, Sanjay, Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weber, Yvonne, Weckhuysen, Sarah, Zara, Federico, Abou-Khalil, Bassel, Alldredge, Brian K, Andermann, Eva, Andermann, Frederick, Amron, Dina, Bautista, Jocelyn F, Berkovic, Samuel F, Bluvstein, Judith, Boro, Alex, Cascino, Gregory, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P, Fiol, Miguel, Fountain, Nathan B, French, Jacqueline, Friedman, Daniel, Geller, Eric B, Glauser, Tracy, Glynn, Simon, Haas, Kevin, Haut, Sheryl R, Hayward, Jean, Helmers, Sandra L, Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E, Knowlton, Robert C, Kossoff, Eric H, Kuperman, Rachel, Kuzniecky, Ruben, Lowenstein, Daniel H, McGuire, Shannon M, Motika, Paul V, Novotny, Edward J, Ottman, Ruth, Paolicchi, Juliann M, Parent, Jack, Park, Kristen, Poduri, Annapurna, Sadleir, Lynette, Scheffer, Ingrid E, Shellhaas, Renée A, Sherr, Elliott, Shih, Jerry J, Singh, Rani, Sirven, Joseph, Smith, Michael C, Sullivan, Joe, Thio, Liu Lin
المصدر: American Journal of Human Genetics. 95(4)
مصطلحات موضوعية: Genetics, Pediatric, Neurosciences, Epilepsy, Brain Disorders, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Cohort Studies, Dynamin I, Exome, Fatty Acid Synthase, Type I, Female, Gene Regulatory Networks, Humans, Infant, Newborn, Lennox Gastaut Syndrome, Male, Mutation, Protein Interaction Maps, Receptors, GABA-B, Ryanodine Receptor Calcium Release Channel, Spasms, Infantile, Synaptic Transmission, EuroEPINOMICS-RES Consortium, Epilepsy Phenome/Genome Project, Epi4K Consortium, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/4805b6c0
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المؤلفون: Lal, D., May, P., Perez-Palma, E., Samocha, K. E., Kosmicki, J. A., Robinson, E. B., Moller, R. S., Krause, R., Nurnberg, P., Weckhuysen, S., De Jonghe, P., Guerrini, R., Niestroj, L. M., Du, J., Marini, C., Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D. C., Depienne, C., Helbig, I., Hjalgrim, H., Hoffman-Zacharska, D., Jahn, J., Klein, K. M., Koeleman, B. P. C., Komarek, V., Leguern, E., Lehesjoki, A. -E., Lemke, J. R., Lerche, H., Linnankivi, T., Muhle, H., Pal, D. K., Palotie, A., Rosenow, F., Schubert-Bast, S., Selmer, K., Serratosa, J. M., Stephani, U., Sterbova, K., Striano, P., Suls, A., Talvik, T., Von Spiczak, S., Weber, Y. G., Zara, F., Ware, J. S., Kurki, M., Gormley, P., Tang, S., Wu, S., Biskup, S., Poduri, A., Neubauer, B. A., Helbig, K. L., Majithia, A. R., Daly, M. J.
المساهمون: EuroEPINOMICS-RES Consortium, Centre of Excellence in Complex Disease Genetics, Aarno Palotie / Principal Investigator, Institute for Molecular Medicine Finland, Genomics of Neurological and Neuropsychiatric Disorders, University of Helsinki, Department of Medical and Clinical Genetics, Medicum, HUS Helsinki and Uusimaa Hospital District, Wellcome Trust
المصدر: Genome medicine
Genome Medicine, Vol 12, Iss 1, Pp 1-12 (2020)
Genome Medicine
Lal, D, May, P, Perez-Palma, E, Samocha, K E, Kosmicki, J A, Robinson, E B, Møller, R S, Krause, R, Nürnberg, P, Weckhuysen, S, De Jonghe, P, Guerrini, R, Niestroj, L M, Du, J, Marini, C, Ware, J S, Kurki, M, Gormley, P, Tang, S, Wu, S, Biskup, S, Poduri, A, Neubauer, B A, Koeleman, B P C, Helbig, K L, Weber, Y G, Helbig, I, Majithia, A R, Palotie, A, Daly, M J & EuroEPINOMICS RES Consortium 2020, ' Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders ', Genome Medicine, vol. 12, 28 . https://doi.org/10.1186/s13073-020-00725-6مصطلحات موضوعية: Candidate gene, lcsh:QH426-470, Developmental Disabilities, Mutation, Missense, Sequence Homology, lcsh:Medicine, ORTHOLOGS, Computational biology, Conservation, Gene family, Missense variants, Neurodevelopmental disorders, Paralogs, Biology, 03 medical and health sciences, MULTIPLE SEQUENCE ALIGNMENT, PHYLOGENETIC TREES, Genetics, Missense mutation, Ensembl, Molecular Biology, Gene, Genetics (clinical), Phylogeny, 030304 developmental biology, 0303 health sciences, 0604 Genetics, Phylogenetic tree, Research, 030305 genetics & heredity, lcsh:R, 1184 Genetics, developmental biology, physiology, 1103 Clinical Sciences, EuroEPINOMICS-RES Consortium, Human genetics, lcsh:Genetics, Genetic Loci, DE-NOVO MUTATIONS, Multigene Family, Molecular Medicine, Human medicine, Orthologous Gene, Genome-Wide Association Study
وصف الملف: application/pdf
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المؤلفون: Siekierska, Aleksandra, Stamberger, Hannah, Deconinck, Tine, Oprescu, Stephanie N., Partoens, Michèle, Zhang, Yifan, Sourbron, Jo, Adriaenssens, Elias, Mullen, Patrick, Wiencek, Patrick, Hardies, Katia, Lee, Jeong-Soo, Giong, Hoi-Khoanh, Distelmaier, Felix, Elpeleg, Orly, Helbig, Katherine L., Hersh, Joseph, Isikay, Sedat, Jordan, Elizabeth, Karaca, Ender, Kecskes, Angela, Lupski, James R., Kovacs-Nagy, Reka, May, Patrick, Narayanan, Vinodh, Pendziwiat, Manuela, Ramsey, Keri, Rangasamy, Sampathkumar, Shinde, Deepali N., Spiegel, Ronen, Timmerman, Vincent, von Spiczak, Sarah, Helbig, Ingo, Weckhuysen, Sarah, Francklyn, Christopher, Antonellis, Anthony, de Witte, Peter, Partoens, Michele, Balak, Chris, Belnap, Newell, Claasen, Ana, Courtright, Amanda, de Both, Matt, Huentelman, Matthew J., Naymik, Marcus, Richholt, Ryan, Siniard, Ashley L., Szelinger, Szabolcs, Craig, David W., Schrauwen, Isabelle, Afawi, Zaid, Balling, Rudi, Baulac, Stephanie, Barisic, Nina, Caglayan, Hande S., Craiu, Dana, Guerrero-Lopez, Rosa, Guerrini, Renzo, Hjalgrim, Helle, Jahn, Johanna, Klein, Karl Martin, Leguern, Eric, Lemke, Johannes R., Lerche, Holger, Marini, Carla, Moller, Rikke S., Muhle, Hiltrud, Rosenow, Felix, Serratosa, Jose, Suls, Arvid, Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Zara, Federico, De Jonghe, Peter
المساهمون: C4RCD Research Group, AR working group of the EuroEPINOMICS RES Consortium, HKÜ, Sağlık Bilimleri Yüksekokulu, Fizyoterapi ve Rehabilitasyon Bölümü
المصدر: Nature Communications
Nature communications
Siekierska, A, Stamberger, H, Deconinck, T, Oprescu, S N, Partoens, M, Zhang, Y, Sourbron, J, Adriaenssens, E, Mullen, P, Wiencek, P, Hardies, K, Lee, J S, Giong, H K, Distelmaier, F, Elpeleg, O, Helbig, K L, Hersh, J, Isikay, S, Jordan, E, Karaca, E, Kecskes, A, Lupski, J R, Kovacs-Nagy, R, May, P, Narayanan, V, Pendziwiat, M, Ramsey, K, Rangasamy, S, Shinde, D N, Spiegel, R, Timmerman, V, von Spiczak, S, Helbig, I, C4RCD Research Group, Møller, R S, Hjalgrim, H, AR working group of the EuroEPINOMICS RES Consortium, Weckhuysen, S, Francklyn, C, Antonellis, A, de Witte, P A M & De Jonghe, P 2019, ' Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish ', Nature Communications, vol. 10, 708 . https://doi.org/10.1038/s41467-018-07953-w
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)مصطلحات موضوعية: 0301 basic medicine, Male, Models, Molecular, Microcephaly, TRANSFER-RNA-SYNTHETASE, ILAE COMMISSION, MUTATIONS CAUSE, ONSET, GENES, HYPOMYELINATION, BIOGENESIS, PHENOTYPE, TRNA(VAL), MECHANISM, General Physics and Astronomy, 02 engineering and technology, chemistry.chemical_compound, Gene Knockout Techniques, Loss of Function Mutation, lcsh:Science, Zebrafish, Genetics, Brain Diseases, Multidisciplinary, biology, 021001 nanoscience & nanotechnology, Phenotype, 3. Good health, Pedigree, ddc, Complementation, Female, 0210 nano-technology, Engineering sciences. Technology, Valine-tRNA Ligase, In silico, Science, General Biochemistry, Genetics and Molecular Biology, Article, Cell Line, 03 medical and health sciences, Prosencephalon, medicine, Animals, Humans, Genetic Predisposition to Disease, Allele, Gene, Biology, Alleles, AR working group of the EuroEPINOMICS RES Consortium, Epilepsy, Aminoacyl tRNA synthetase, fungi, General Chemistry, Fibroblasts, biology.organism_classification, medicine.disease, Disease Models, Animal, 030104 developmental biology, chemistry, C4RCD Research Group, Neurodevelopmental Disorders, lcsh:Q, Human medicine
وصف الملف: application/pdf; pdf; Electronic
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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