المؤلفون: Kadoh, Daisuke, Kato, Mitsuhiro, Sakamoto, Makoto, So, Hiroto

مصطلحات موضوعية: High Energy Physics - Theory, High Energy Physics - Lattice

URL الوصول: http://arxiv.org/abs/2501.14260

المؤلفون: van der Laan, Liselot, Silva, Ananília, Kleinendorst, Lotte, Rooney, Kathleen, Haghshenas, Sadegheh, Lauffer, Peter, Alanay, Yasemin, Bhai, Pratibha, Brusco, Alfredo, de Munnik, Sonja, de Vries, Bert B.A., Vega, Angelica Delgado, Engelen, Marc, Herkert, Johanna C., Hochstenbach, Ron, Hopman, Saskia, Kant, Sarina G., Kira, Ryutaro, Kato, Mitsuhiro, Keren, Boris, Kroes, Hester Y., Levy, Michael A., Lock-Hock, Ngu, Maas, Saskia M., Mancini, Grazia M.S., Marcelis, Carlo, Matsumoto, Naomichi, Mizuguchi, Takeshi, Mussa, Alessandro, Mignot, Cyril, Närhi, Anu, Nordgren, Ann, Pfundt, Rolph, Polstra, Abeltje M., Trajkova, Slavica, van Bever, Yolande, José van den Boogaard, Marie, van der Smagt, Jasper J., Barakat, Tahsin Stefan, Alders, Mariëlle, Mannens, Marcel M.A.M., Sadikovic, Bekim, van Haelst, Mieke M., Henneman, Peter

المصدر: van der Laan , L , Silva , A , Kleinendorst , L , Rooney , K , Haghshenas , S , Lauffer , P , Alanay , Y , Bhai , P , Brusco , A , de Munnik , S , de Vries , B B A , Vega , A D , Engelen , M , Herkert , J C , Hochstenbach , R , Hopman , S , Kant , S G , Kira , R , Kato , M , Keren , B , Kroes , H Y , Levy , M A , ....

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/cbc3d29e-20f6-4c73-a278-a49f7040b8be
https://doi.org/10.1016/j.xhgg.2024.100380
https://pure.eur.nl/ws/files/180480699/1-s2.0-S2666247724001209-main.pdf
http://www.scopus.com/inward/record.url?scp=85209580203&partnerID=8YFLogxK

المؤلفون: Conti, Valerio, Giubbolini, Simone, Barrick, Rebekah, Bergant, Gaber, Writzl, Karin, Bijlsma, Emilia, Brunet, Theresa, Cacheiro, Pilar, Mei, Davide, Devlin, Anita, Hoffer, Mariëtte, Machol, Keren, Mannaioni, Guido, Sakamoto, Masamune, Menezes, Manoj, Courtin, Thomas, Sherr, Elliott, Parra, Riccardo, Richardson, Ruth, Roscioli, Tony, Scala, Marcello, von Stülpnagel, Celina, Smedley, Damian, Torella, Annalaura, Tohyama, Jun, Koichihara, Reiko, Hamada, Keisuke, Ogata, Kazuhiro, Suzuki, Takashi, Sugie, Atsushi, van der Smagt, Jasper, van Gassen, Koen, Valence, Stephanie, Vittery, Emma, Malone, Stephen, Kato, Mitsuhiro, Matsumoto, Naomichi, Ratto, Gian, Guerrini, Renzo, Vetro, Annalisa, Pelorosso, Cristiana, Balestrini, Simona, Masi, Alessio, Hambleton, Sophie, Argilli, Emanuela

المصدر: American Journal of Human Genetics. 110(8)

مصطلحات موضوعية: abnormal myelination, epilepsy, epileptic encephalopathy, hemolytic anemia, infantile spasms, ion channels, leak cation currents, osmotic stress, white matter abnormality, Humans, Brain Diseases, Ion Channels, Brain, Intellectual Disability, Phenotype

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4bb0k2qj

المؤلفون: Asano, Masako, Kato, Mitsuhiro

مصطلحات موضوعية: High Energy Physics - Theory

URL الوصول: http://arxiv.org/abs/2207.00131

المؤلفون: Kato, Mitsuhiro, Nishii, Kanji, Noumi, Toshifumi, Takeuchi, Toshiaki, Zhou, Siyi

مصطلحات موضوعية: High Energy Physics - Theory, General Relativity and Quantum Cosmology, High Energy Physics - Phenomenology

URL الوصول: http://arxiv.org/abs/2102.09746

المؤلفون: Bayam, Efil, Tilly, Peggy, Collins, Stephan C, Rivera Alvarez, José, Kannan, Meghna, Tonneau, Lucile, Brivio, Elena, Rinaldi, Bruno, Lecat, Romain, Schwaller, Noémie, Cotellessa, Ludovica, Maddirevula, Sateesh, Monteiro, Fabiola, Guardia, Carlos M, Kitajima, João Paulo, Kok, Fernando, Kato, Mitsuhiro, Hamed, Ahlam A A, Salih, Mustafa A, Al Tala, Saeed, Hashem, Mais O, Tada, Hiroko, Saitsu, Hirotomo, Stabile, Mariano, Giacobini, Paolo, Friant, Sylvie, Yüksel, Zafer, Nakashima, Mitsuko, Alkuraya, Fowzan S, Yalcin, Binnaz, Godin, Juliette D

المساهمون: ATIP Avenir, Fondation Fyssen, Agence Nationale de la Recherche, Fondation Jerome Lejeune, Institut National de la Santé et de la Recherche Médicale, Fondation pour la Recherche Médicale, Centre National de la Recherche Scientifique, University of Strasbourg, HHS | NIH | National Institute of Environmental Health Sciences, Ministère de l'Enseignement supérieur, de la Recherche et de l'Innovation, MEXT | Japan Society for the Promotion of Science, Japan Agency for Medical Research and Development, Takeda Science Foundation, Hamamatsu University School of Medicine, Ministry of Health, Labor, and Welfare, Japan, Burgundy Regional Council

المصدر: EMBO Molecular Medicine ; volume 17, issue 1, page 129-168 ; ISSN 1757-4684

الاتاحة: https://doi.org/10.1038/s44321-024-00178-z
https://www.embopress.org/doi/epdf/10.1038/s44321-024-00178-z
https://www.embopress.org/doi/full/10.1038/s44321-024-00178-z

المؤلفون: van der Laan, Liselot, Silva, Ananília, Kleinendorst, Lotte, Rooney, Kathleen, Haghshenas, Sadegheh, Lauffer, Peter, Alanay, Yasemin, Bhai, Pratibha, Brusco, Alfredo, de Munnik, Sonja, de Vries, Bert B.A., Vega, Angelica Delgado, Engelen, Marc, Herkert, Johanna C., Hochstenbach, Ron, Hopman, Saskia, Kant, Sarina G., Kira, Ryutaro, Kato, Mitsuhiro, Keren, Boris, Kroes, Hester Y., Levy, Michael A., Lock-Hock, Ngu, Maas, Saskia M., Mancini, Grazia M.S., Marcelis, Carlo, Matsumoto, Naomichi, Mizuguchi, Takeshi, Mussa, Alessandro, Mignot, Cyril, Närhi, Anu, Nordgren, Ann, Pfundt, Rolph, Polstra, Abeltje M., Trajkova, Slavica, van Bever, Yolande, José van den Boogaard, Marie, van der Smagt, Jasper J., Barakat, Tahsin Stefan, Alders, Mariëlle, Mannens, Marcel M.A.M., Sadikovic, Bekim, van Haelst, Mieke M., Henneman, Peter

المساهمون: HUSLAB, Department of Medical and Clinical Genetics, HUS Helsinki and Uusimaa Hospital District

مصطلحات موضوعية: CUL3, DNA methylation, episignature, genotype-phenotype correlation, intellectual disability, NEDAUS, Biomedicine, Genetics, developmental biology, physiology

وصف الملف: application/pdf

Relation: We would like to thank the participants described in this study. Funding for this study was provided in part by the Government of Canada through Genome Canada and the Ontario Genomics Institute (OGI-188) . L.v.d.L. received the AR&D Travel Grant from Amsterdam UMC, which provided financial support for this work. T.S.B. was supported by the Netherlands Organisation for Scientific Research (ZonMw Vidi, grant 09150172110002) and acknowledges ongoing support from EpilepsieNL and CURE Epilepsy. N.M. and T.M. were supported by the Takeda Science Foundation, with additional support for T.M. from JSPS KAKENHI under grant nos. JP23K27568 and JP23K18278.; http://hdl.handle.net/10138/588621; 85209580203; 001364279900001

الاتاحة: http://hdl.handle.net/10138/588621

المؤلفون: Conecker, Gabrielle, Xia, Maya Y., Hecker, Jay Etta, Achkar, Christelle, Cukiert, Cristine, Devries, Seth, Donner, Elizabeth, Fitzgerald, Mark, Gardella, Elena, Hammer, Michael, Hegde, Anaita, Hu, Chunhui, Kato, Mitsuhiro, Luo, Tian, Schreiber, John M., Wang, Yi, Kooistra, Tammy, Oudin, Madeleine, Waldrop, Kayla, Youngquist, J. Tyler, Zhang, Dennis, Wirrell, Elaine, Perry, M. Scott

المصدر: Conecker , G , Xia , M Y , Hecker , J E , Achkar , C , Cukiert , C , Devries , S , Donner , E , Fitzgerald , M , Gardella , E , Hammer , M , Hegde , A , Hu , C , Kato , M , Luo , T , Schreiber , J M , Wang , Y , Kooistra , T , Oudin , M , Waldrop , K , Youngquist , J T , Zhang , D , Wirrell , E & Perry , M S 2024 , ' ....

مصطلحات موضوعية: developmental and epileptic encephalopathy, early intervention, multidisciplinary care, phenotypes, severity, Prognosis, NAV1.6 Voltage-Gated Sodium Channel/genetics, Comorbidity, Humans, Consensus, Epilepsy/epidemiology, Delphi Technique, Neurodevelopmental Disorders/epidemiology

وصف الملف: application/pdf

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/b9f6fe24-2a31-4574-88c1-6de27432753f
https://doi.org/10.1111/epi.17991
https://findresearcher.sdu.dk/ws/files/277642169/Open_Access_Version.pdf

المؤلفون: Tokorodani, Chiho, Nishiuchi, Ritsuo, Miya, Fuyuki, Kobayashi, Katsuhiro, Kato, Mitsuhiro

المصدر: Brain and Development Case Reports ; volume 2, issue 4, page 100044 ; ISSN 2950-2217

الاتاحة: https://doi.org/10.1016/j.bdcasr.2024.100044
https://api.elsevier.com/content/article/PII:S2950221724000400?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2950221724000400?httpAccept=text/plain

المؤلفون: Suzuki, Kenta, Suzuki, Yuichi, Yamada, Mika, Nodera, Maki, Miya, Fuyuki, Kato, Mitsuhiro, Hosoya, Mitsuaki

المصدر: Brain and Development Case Reports ; volume 2, issue 4, page 100048 ; ISSN 2950-2217

الاتاحة: https://doi.org/10.1016/j.bdcasr.2024.100048
https://api.elsevier.com/content/article/PII:S2950221724000448?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2950221724000448?httpAccept=text/plain

المؤلفون: Sasaki, Kasumi, Nakashima, Mitsuko, Fujii, Yuji, Itamura, Shinji, Saitsu, Hirotomo, Kato, Mitsuhiro

المصدر: Brain and Development Case Reports ; volume 2, issue 4, page 100043 ; ISSN 2950-2217

الاتاحة: https://doi.org/10.1016/j.bdcasr.2024.100043
https://api.elsevier.com/content/article/PII:S2950221724000394?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2950221724000394?httpAccept=text/plain

المؤلفون: Conecker, Gabrielle, Xia, Maya Y., Hecker, Jay Etta, Achkar, Christelle, Cukiert, Cristine, Devries, Seth, Donner, Elizabeth, Fitzgerald, Mark P., Gardella, Elena, Hammer, Michael, Hegde, Anaita, Hu, Chunhui, Kato, Mitsuhiro, Luo, Tian, Schreiber, John M., Wang, Yi, Kooistra, Tammy, Oudin, Madeleine, Waldrop, Kayla, Youngquist, J. Tyler, Zhang, Dennis, Wirrell, Elaine, Perry, M. Scott

المصدر: Conecker , G , Xia , M Y , Hecker , J E , Achkar , C , Cukiert , C , Devries , S , Donner , E , Fitzgerald , M P , Gardella , E , Hammer , M , Hegde , A , Hu , C , Kato , M , Luo , T , Schreiber , J M , Wang , Y , Kooistra , T , Oudin , M , Waldrop , K , Youngquist , J T , Zhang , D , Wirrell , E & Perry , M S 2024 , ....

مصطلحات موضوعية: developmental and epileptic encephalopathy, function of variant, heterogeneity, phenotypes, sodium channel blockers

وصف الملف: application/pdf

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/63649c22-2f64-4799-b9ec-f4f920a9e484
https://doi.org/10.1111/epi.17992
https://findresearcher.sdu.dk/ws/files/276348014/Open_Access_Version.pdf

المؤلفون: Kalantari, Silvia, Carlston, Colleen, Alsaleh, Norah, Abdel-Salam, Ghada M. H., Alkuraya, Fowzan, Kato, Mitsuhiro, Matsumoto, Naomichi, Miyatake, Satoko, Yamamoto, Tatsuya, Fares-Taie, Lucas, Rozet, Jean-Michel, Chassaing, Nicolas, Vincent, Catherine, Kang-Bellin, Anjeung, Mcwalter, Kirsty, Bupp, Caleb, Palen, Emily, Wagner, Monisa D., Niceta, Marcello, Cesario, Claudia, Milone, Roberta, Kaplan, Julie, Wadman, Erin, Dobyns, William B., Filges, Isabel

المساهمون: Université de Lille, CHU Lille, University Hospital Basel Basel, Boston Children's Hospital, National Research Centre Giza, Egypt, King Faisal Specialist Hospital and Resarch Centre Riyadh, Saudi Arabia KFSHRC, Yokohama City University YCU, Hirosaki University, Imagine - Institut des maladies génétiques (IHU) Imagine - U1163, Centre Hospitalier Universitaire de Toulouse CHU Toulouse, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364, GeneDx Gaithersburg, MD, USA, Spectrum Health Grand Rapids, Geisinger Autism & Developmental Medicine Institute Danville, PA, USA ADMI, IRCCS Ospedale Pediatrico Bambino Gesù = Bambino Gesù Children’s Hospital, IRCCS Fondazione Stella Maris Pisa, Nemours/Alfred I. du Pont Hospital for Children, University of Minnesota System UMN, Université de Bâle = University of Basel = Basel Universität Unibas

مصطلحات موضوعية: brain anomalies, hydrocephalus, intellectual disability, KIF4A, kinesinopathies, kinesins

وصف الملف: application/octet-stream; application/rdf+xml; charset=utf-8; application/pdf

Relation: American Journal of Medical Genetics Part A; Am J Med Genet A; http://hdl.handle.net/20.500.12210/115587

الاتاحة: https://hdl.handle.net/20.500.12210/115587

المؤلفون: den Hoed, Joery, de Boer, Elke, Voisin, Norine, Dingemans, Alexander, Guex, Nicolas, Wiel, Laurens, Nellaker, Christoffer, Amudhavalli, Shivarajan, Banka, Siddharth, Bena, Frederique, Ben-Zeev, Bruria, Bonagura, Vincent, Bruel, Ange-Line, Brunet, Theresa, Brunner, Han, Chew, Hui, Chrast, Jacqueline, Cimbalistienė, Loreta, Coon, Hilary, Délot, Emmanuèlle, Démurger, Florence, Denommé-Pichon, Anne-Sophie, Depienne, Christel, Donnai, Dian, Dyment, David, Elpeleg, Orly, Faivre, Laurence, Gilissen, Christian, Granger, Leslie, Haber, Benjamin, Hachiya, Yasuo, Abedi, Yasmin, Hanebeck, Jennifer, Hehir-Kwa, Jayne, Horist, Brooke, Itai, Toshiyuki, Jackson, Adam, Jewell, Rosalyn, Jones, Kelly, Joss, Shelagh, Kashii, Hirofumi, Kato, Mitsuhiro, Kattentidt-Mouravieva, Anja, Kok, Fernando, Kotzaeridou, Urania, Krishnamurthy, Vidya, Kučinskas, Vaidutis, Kuechler, Alma, Lavillaureix, Alinoë, Liu, Pengfei, Manwaring, Linda, Matsumoto, Naomichi, Mazel, Benoît, McWalter, Kirsty, Meiner, Vardiella, Mikati, Mohamad, Miyatake, Satoko, Mizuguchi, Takeshi, Moey, Lip, Mohammed, Shehla, Mor-Shaked, Hagar, Mountford, Hayley, Newbury-Ecob, Ruth, Odent, Sylvie, Orec, Laura, Osmond, Matthew, Palculict, Timothy, Parker, Michael, Petersen, Andrea, Pfundt, Rolph, Preikšaitienė, Eglė, Radtke, Kelly, Ranza, Emmanuelle, Rosenfeld, Jill, Santiago-Sim, Teresa, Schwager, Caitlin, Sinnema, Margje, Snijders Blok, Lot, Spillmann, Rebecca, Stegmann, Alexander, Thiffault, Isabelle, Tran, Linh, Vaknin-Dembinsky, Adi, Vedovato-Dos-Santos, Juliana, Schrier Vergano, Samantha, Vilain, Eric, Vitobello, Antonio, Wagner, Matias, Waheeb, Androu, Willing, Marcia, Zuccarelli, Britton, Kini, Usha, Newbury, Dianne, Kleefstra, Tjitske, Reymond, Alexandre, Fisher, Simon, Vissers, Lisenka

المصدر: American Journal of Human Genetics. 108(2)

مصطلحات موضوعية: HPO-based analysis, SATB1, cell-based functional assays, de novo variants, intellectual disability, neurodevelopmental disorders, seizures, teeth abnormalities, Chromatin, Female, Genetic Association Studies, Haploinsufficiency, Humans, Male, Matrix Attachment Region Binding Proteins, Models, Molecular, Mutation, Mutation, Missense, Neurodevelopmental Disorders, Protein Binding, Protein Domains, Transcription, Genetic

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/70f7n18h

المؤلفون: Iwama, Kazuhiro, Kato, Mitsuhiro, Uchiyama, Yuri, Sakamoto, Masamune, Miyamoto, Ryosuke, Izumi, Yuishin, Ohashi, Kei, Hattori, Ayako, Yoshida, Noboru, Azuma, Yoshiteru, Watanabe, Akito, Ikeda, Chizuru, Shimizu-Motohashi, Yuko, Kusabiraki, Shohei, Nakagawa, Eiji, Sasaki, Masayuki, Sugai, Kenji, Ohori, Sachiko, Tsuchida, Naomi, Hamanaka, Kohei, Koshimizu, Eriko, Fujita, Atsushi, Nakashima, Mitsuko, Miyatake, Satoko, Sengoku, Toru, Ogata, Kazuhiro, Saitoh, Shinji, Saitsu, Hirotomo, Ito, Shuichi, Mizuguchi, Takeshi, Matsumoto, Naomichi

المساهمون: MEXT | Japan Society for the Promotion of Science, MEXT | Japan Science and Technology Agency, Takeda Science Foundation

المصدر: Journal of Human Genetics ; ISSN 1434-5161 1435-232X

الاتاحة: https://doi.org/10.1038/s10038-025-01316-2
https://www.nature.com/articles/s10038-025-01316-2.pdf
https://www.nature.com/articles/s10038-025-01316-2

المؤلفون: Fatima, Ambrin, Hoeber, Jan, 1986, Schuster, Jens, Assistant Professor, 1972, Koshimizu, Eriko, Gonzalez, Carolina Maya, Keren, Boris, Mignot, Cyril, Akram, Talia, Ali, Zafar, Miyatake, Satoko, Tanigawa, Junpei, Koike, Takayoshi, Kato, Mitsuhiro, Murakami, Yoshiko, Abdullah, Uzma, Ali, Muhammad Akhtar, Fadoul, Rein, Laan, Loora, Castillejo-Lopez, Casimiro, Liik, Maarika, Jin, Zhe, Birnir, Bryndis, Matsumoto, Naomichi, Baig, Shahid M., Klar, Joakim, PhD, 1974, Dahl, Niklas

المصدر: American Journal of Human Genetics. 108(4):739-748

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-442185
https://doi.org/10.1016/j.ajhg.2021.02.015
https://uu.diva-portal.org/smash/get/diva2:1554595/FULLTEXT01.pdf

المؤلفون: Kato, Mitsuhiro, Sakamoto, Makoto, So, Hiroto

المصدر: Prog Theor Exp Phys (2018)

مصطلحات موضوعية: High Energy Physics - Theory, High Energy Physics - Lattice

URL الوصول: http://arxiv.org/abs/1809.02379

المؤلفون: Bayam, Efil, Tilly, Peggy, Collins, Stephan C, Rivera Alvarez, José, Kannan, Meghna, Tonneau, Lucile, Brivio, Elena, Rinaldi, Bruno, Lecat, Romain, Schwaller, Noémie, Cotellessa, Ludovica, Maddirevula, Sateesh, Monteiro, Fabiola, Guardia, Carlos M, Kitajima, João Paulo, Kok, Fernando, Kato, Mitsuhiro, Hamed, Ahlam A A, Salih, Mustafa A, Al Tala, Saeed

المصدر: EMBO Molecular Medicine; Jan2025, Vol. 17 Issue 1, p129-168, 40p

المؤلفون: Stevelink, Remi, Campbell, Ciarán, Chen, Siwei, Abou-Khalil, Bassel, Adesoji, Oluyomi M., Afawi, Zaid, Amadori, Elisabetta, Anderson, Alison, Anderson, Joseph, Andrade, Danielle M., Annesi, Grazia, Auce, Pauls, Avbersek, Andreja, Bahlo, Melanie, Baker, Mark D., Balagura, Ganna, Balestrini, Simona, Barba, Carmen, Barboza, Karen, Bartolomei, Fabrice, Bast, Thomas, Baum, Larry, Baumgartner, Tobias, Baykan, Betül, Bebek, Nerses, Becker, Albert J., Becker, Felicitas, Bennett, Caitlin A., Berghuis, Bianca, Berkovic, Samuel F., Beydoun, Ahmad, Bianchini, Claudia, Bisulli, Francesca, Blatt, Ilan, Bobbili, Dheeraj R., Borggraefe, Ingo, Bosselmann, Christian, Braatz, Vera, Bradfield, Jonathan P., Brockmann, Knut, Brody, Lawrence C., Buono, Russell J., Busch, Robyn M., Caglayan, Hande, Campbell, Ellen, Canafoglia, Laura, Canavati, Christina, Cascino, Gregory D., Castellotti, Barbara, Catarino, Claudia B., Cavalleri, Gianpiero L., Cerrato, Felecia, Chassoux, Francine, Cherny, Stacey S., Cheung, Ching-Lung, Chinthapalli, Krishna, Chou, I-Jun, Chung, Seo-Kyung, Churchhouse, Claire, Clark, Peggy O., Cole, Andrew J., Compston, Alastair, Coppola, Antonietta, Cosico, Mahgenn, Cossette, Patrick, Craig, John J., Cusick, Caroline, Daly, Mark J., Davis, Lea K., de Haan, Gerrit-Jan, Delanty, Norman, Depondt, Chantal, Derambure, Philippe, Devinsky, Orrin, Di Vito, Lidia, Dlugos, Dennis J., Doccini, Viola, Doherty, Colin P., El-Naggar, Hany, Elger, Christian E., Ellis, Colin A., Eriksson, Johan G., Faucon, Annika, Feng, Yen-Chen A., Ferguson, Lisa, Ferraro, Thomas N., Ferri, Lorenzo, Feucht, Martha, Fitzgerald, Mark, Fonferko-Shadrach, Beata, Fortunato, Francesco, Franceschetti, Silvana, Franke, Andre, French, Jacqueline A., Freri, Elena, Gagliardi, Monica, Gambardella, Antonio, Geller, Eric B., Giangregorio, Tania, Gjerstad, Leif, Glauser, Tracy, Goldberg, Ethan, Goldman, Alicia, Granata, Tiziana, Greenberg, David A., Guerrini, Renzo, Gupta, Namrata, Haas, Kevin F., Hakonarson, Hakon, Hallmann, Kerstin, Hassanin, Emadeldin, Hegde, Manu, Heinzen, Erin L., Helbig, Ingo, Hengsbach, Christian, Heyne, Henrike O., Hirose, Shinichi, Hirsch, Edouard, Hjalgrim, Helle, Howrigan, Daniel P., Hucks, Donald, Hung, Po-Cheng, Iacomino, Michele, Imbach, Lukas L., Inoue, Yushi, Ishii, Atsushi, Jamnadas-Khoda, Jennifer, Jehi, Lara, Johnson, Michael R., Kälviäinen, Reetta, Kamatani, Yoichiro, Kanaan, Moien, Kanai, Masahiro, Kantanen, Anne-Mari, Kara, Bülent, Kariuki, Symon M., Kasperavi'i'te, Dalia, Kasteleijn-Nolst Trenite, Dorothee, Kato, Mitsuhiro, Kegele, Josua, Kesim, Yes'im, Khoueiry-Zgheib, Nathalie, King, Chontelle, Kirsch, Heidi E., Klein, Karl M., Kluger, Gerhard, Knake, Susanne, Knowlton, Robert C., Koeleman, Bobby P. C., Korczyn, Amos D., Koupparis, Andreas, Kousiappa, Ioanna, Krause, Roland, Krenn, Martin, Krestel, Heinz, Krey, Ilona, Kunz, Wolfram S., Kurki, Mitja I., Kurlemann, Gerhard, Kuzniecky, Ruben, Kwan, Patrick, Labate, Angelo, Lacey, Austin, Lal, Dennis, Landoulsi, Zied, Lau, Yu-Lung, Lauxmann, Stephen, Leech, Stephanie L., Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Lesca, Gaetan, Leu, Costin, Lewin, Naomi, Lewis-Smith, David, Li, Gloria H.-Y., Li, Qingqin S., Licchetta, Laura, Lin, Kuang-Lin, Lindhout, Dick, Linnankivi, Tarja, Lopes-Cendes, Iscia, Lowenstein, Daniel H., Lui, Colin H. T., Madia, Francesca, Magnusson, Sigurdur, Marson, Anthony G., May, Patrick, McGraw, Christopher M., Mei, Davide, Mills, James L., Minardi, Raffaella, Mirza, Nasir, Møller, Rikke S., Molloy, Anne M., Montomoli, Martino, Mostacci, Barbara, Muccioli, Lorenzo, Muhle, Hiltrud, Müller-Schlüter, Karen, Najm, Imad M., Nasreddine, Wassim, Neale, Benjamin M., Neubauer, Bernd, Newton, Charles R. J. C., Nöthen, Markus M., Nothnagel, Michael, Nürnberg, Peter, O'Brien, Terence J., Okada, Yukinori, Ólafsson, Elías, Oliver, Karen L., Özkara, C'ig'dem, Palotie, Aarno, Pangilinan, Faith, Papacostas, Savvas S., Parrini, Elena, Pato, Carlos N., Pato, Michele T., Pendziwiat, Manuela, Petrovski, Slavé, Pickrell, William O., Pinsky, Rebecca, Pippucci, Tommaso, Poduri, Annapurna, Pondrelli, Federica, Powell, Rob H. W., Privitera, Michael, Rademacher, Annika, Radtke, Rodney, Ragona, Francesca, Rau, Sarah, Rees, Mark I., Regan, Brigid M., Reif, Philipp S., Rhelms, Sylvain, Riva, Antonella, Rosenow, Felix, Ryvlin, Philippe, Saarela, Anni, Sadleir, Lynette G., Sander, Josemir W., Sander, Thomas, Scala, Marcello, Scattergood, Theresa, Schachter, Steven C., Schankin, Christoph J., Scheffer, Ingrid E., Schmitz, Bettina, Schoch, Susanne, Schubert-Bast, Susanne, Schulze-Bonhage, Andreas, Scudieri, Paolo, Sham, Pak, Sheidley, Beth R., Shih, Jerry J., Sills, Graeme J., Sisodiya, Sanjay M., Smith, Michael C., Smith, Philip E., Sonsma, Anja C. M., Speed, Doug, Sperling, Michael R., Stefansson, Hreinn, Stefansson, Kári, Steinhoff, Bernhard J., Stephani, Ulrich, Stewart, William C., Stipa, Carlotta, Striano, Pasquale, Stroink, Hans, Strzelczyk, Adam, Surges, Rainer, Suzuki, Toshimitsu, Tan, K. Meng, Taneja, R. S., Tanteles, George A., Taubøll, Erik, Thio, Liu Lin, Thomas, G. Neil, Thomas, Rhys H., Timonen, Oskari, Tinuper, Paolo, Todaro, Marian, Topalo'lu, P'nar, Tozzi, Rossana, Tsai, Meng-Han, Tumiene, Birute, Turkdogan, Dilsad, Unnsteinsdóttir, Unnur, Utkus, Algirdas, Vaidiswaran, Priya, Valton, Luc, van Baalen, Andreas, Vetro, Annalisa, Vining, Eileen P. G., Visscher, Frank, von Brauchitsch, Sophie, von Wrede, Randi, Wagner, Ryan G., Weber, Yvonne G., Weckhuysen, Sarah, Weisenberg, Judith, Weller, Michael, Widdess-Walsh, Peter, Wolff, Markus, Wolking, Stefan, Wu, David, Yamakawa, Kazuhiro, Yang, Wanling, Yap'c', Zuhal, Yücesan, Emrah, Zagaglia, Sara, Zahnert, Felix, Zara, Federico, Zhou, Wei, Zimprich, Fritz, Zsurka, Gábor, Zulfiqar Ali, Quratulain

وصف الملف: application/pdf

Relation: https://orca.cardiff.ac.uk/id/eprint/168241/1/Complex%20Epilepsies.%20Genome%20s41588-023-01485-w.pdf; Stevelink, Remi, Campbell, Ciarán, Chen, Siwei, Abou-Khalil, Bassel, Adesoji, Oluyomi M., Afawi, Zaid, Amadori, Elisabetta, Anderson, Alison, Anderson, Joseph, Andrade, Danielle M., Annesi, Grazia, Auce, Pauls, Avbersek, Andreja, Bahlo, Melanie, Baker, Mark D., Balagura, Ganna, Balestrini, Simona, Barba, Carmen, Barboza, Karen, Bartolomei, Fabrice, Bast, Thomas, Baum, Larry, Baumgartner, Tobias, Baykan, Betül, Bebek, Nerses, Becker, Albert J., Becker, Felicitas, Bennett, Caitlin A., Berghuis, Bianca, Berkovic, Samuel F., Beydoun, Ahmad, Bianchini, Claudia, Bisulli, Francesca, Blatt, Ilan, Bobbili, Dheeraj R., Borggraefe, Ingo, Bosselmann, Christian, Braatz, Vera, Bradfield, Jonathan P., Brockmann, Knut, Brody, Lawrence C., Buono, Russell J., Busch, Robyn M., Caglayan, Hande, Campbell, Ellen, Canafoglia, Laura, Canavati, Christina, Cascino, Gregory D., Castellotti, Barbara, Catarino, Claudia B., Cavalleri, Gianpiero L., Cerrato, Felecia, Chassoux, Francine, Cherny, Stacey S., Cheung, Ching-Lung, Chinthapalli, Krishna, Chou, I-Jun, Chung, Seo-Kyung, Churchhouse, Claire, Clark, Peggy O., Cole, Andrew J., Compston, Alastair, Coppola, Antonietta, Cosico, Mahgenn, Cossette, Patrick, Craig, John J., Cusick, Caroline, Daly, Mark J., Davis, Lea K., de Haan, Gerrit-Jan, Delanty, Norman, Depondt, Chantal, Derambure, Philippe, Devinsky, Orrin, Di Vito, Lidia, Dlugos, Dennis J., Doccini, Viola, Doherty, Colin P., El-Naggar, Hany, Elger, Christian E., Ellis, Colin A., Eriksson, Johan G., Faucon, Annika, Feng, Yen-Chen A., Ferguson, Lisa, Ferraro, Thomas N., Ferri, Lorenzo, Feucht, Martha, Fitzgerald, Mark, Fonferko-Shadrach, Beata, Fortunato, Francesco, Franceschetti, Silvana, Franke, Andre, French, Jacqueline A., Freri, Elena, Gagliardi, Monica, Gambardella, Antonio, Geller, Eric B., Giangregorio, Tania, Gjerstad, Leif, Glauser, Tracy, Goldberg, Ethan, Goldman, Alicia, Granata, Tiziana, Greenberg, David A., Guerrini, Renzo, Gupta, Namrata, Haas, Kevin F., Hakonarson, Hakon, Hallmann, Kerstin, Hassanin, Emadeldin, Hegde, Manu, Heinzen, Erin L., Helbig, Ingo, Hengsbach, Christian, Heyne, Henrike O., Hirose, Shinichi, Hirsch, Edouard, Hjalgrim, Helle, Howrigan, Daniel P., Hucks, Donald, Hung, Po-Cheng, Iacomino, Michele, Imbach, Lukas L., Inoue, Yushi, Ishii, Atsushi, Jamnadas-Khoda, Jennifer, Jehi, Lara, Johnson, Michael R., Kälviäinen, Reetta, Kamatani, Yoichiro, Kanaan, Moien, Kanai, Masahiro, Kantanen, Anne-Mari, Kara, Bülent, Kariuki, Symon M., Kasperavi'i'te, Dalia, Kasteleijn-Nolst Trenite, Dorothee, Kato, Mitsuhiro, Kegele, Josua, Kesim, Yes'im, Khoueiry-Zgheib, Nathalie, King, Chontelle, Kirsch, Heidi E., Klein, Karl M., Kluger, Gerhard, Knake, Susanne, Knowlton, Robert C., Koeleman, Bobby P. C., Korczyn, Amos D., Koupparis, Andreas, Kousiappa, Ioanna, Krause, Roland, Krenn, Martin, Krestel, Heinz, Krey, Ilona, Kunz, Wolfram S., Kurki, Mitja I., Kurlemann, Gerhard, Kuzniecky, Ruben, Kwan, Patrick, Labate, Angelo, Lacey, Austin, Lal, Dennis, Landoulsi, Zied, Lau, Yu-Lung, Lauxmann, Stephen, Leech, Stephanie L., Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Lesca, Gaetan, Leu, Costin, Lewin, Naomi, Lewis-Smith, David, Li, Gloria H.-Y., Li, Qingqin S., Licchetta, Laura, Lin, Kuang-Lin, Lindhout, Dick, Linnankivi, Tarja, Lopes-Cendes, Iscia, Lowenstein, Daniel H., Lui, Colin H. T., Madia, Francesca, Magnusson, Sigurdur, Marson, Anthony G., May, Patrick, McGraw, Christopher M., Mei, Davide, Mills, James L., Minardi, Raffaella, Mirza, Nasir, Møller, Rikke S., Molloy, Anne M., Montomoli, Martino, Mostacci, Barbara, Muccioli, Lorenzo, Muhle, Hiltrud, Müller-Schlüter, Karen, Najm, Imad M., Nasreddine, Wassim, Neale, Benjamin M., Neubauer, Bernd, Newton, Charles R. J. C., Nöthen, Markus M., Nothnagel, Michael, Nürnberg, Peter, O'Brien, Terence J., Okada, Yukinori, Ólafsson, Elías, Oliver, Karen L., Özkara, C'ig'dem, Palotie, Aarno, Pangilinan, Faith, Papacostas, Savvas S., Parrini, Elena, Pato, Carlos N., Pato, Michele T., Pendziwiat, Manuela, Petrovski, Slavé, Pickrell, William O., Pinsky, Rebecca, Pippucci, Tommaso, Poduri, Annapurna, Pondrelli, Federica, Powell, Rob H. W., Privitera, Michael, Rademacher, Annika, Radtke, Rodney, Ragona, Francesca, Rau, Sarah, Rees, Mark I., Regan, Brigid M., Reif, Philipp S., Rhelms, Sylvain, Riva, Antonella, Rosenow, Felix, Ryvlin, Philippe, Saarela, Anni, Sadleir, Lynette G., Sander, Josemir W., Sander, Thomas, Scala, Marcello, Scattergood, Theresa, Schachter, Steven C., Schankin, Christoph J., Scheffer, Ingrid E., Schmitz, Bettina, Schoch, Susanne, Schubert-Bast, Susanne, Schulze-Bonhage, Andreas, Scudieri, Paolo, Sham, Pak, Sheidley, Beth R., Shih, Jerry J., Sills, Graeme J., Sisodiya, Sanjay M., Smith, Michael C., Smith, Philip E. https://orca.cardiff.ac.uk/view/cardiffauthors/A031538K.html orcid:0000-0003-4250-2562 orcid:0000-0003-4250-2562, Sonsma, Anja C. M., Speed, Doug, Sperling, Michael R., Stefansson, Hreinn, Stefansson, Kári, Steinhoff, Bernhard J., Stephani, Ulrich, Stewart, William C., Stipa, Carlotta, Striano, Pasquale, Stroink, Hans, Strzelczyk, Adam, Surges, Rainer, Suzuki, Toshimitsu, Tan, K. Meng, Taneja, R. S., Tanteles, George A., Taubøll, Erik, Thio, Liu Lin, Thomas, G. Neil, Thomas, Rhys H. https://orca.cardiff.ac.uk/view/cardiffauthors/A124167S.html orcid:0000-0003-2062-8623 orcid:0000-0003-2062-8623, Timonen, Oskari, Tinuper, Paolo, Todaro, Marian, Topalo'lu, P'nar, Tozzi, Rossana, Tsai, Meng-Han, Tumiene, Birute, Turkdogan, Dilsad, Unnsteinsdóttir, Unnur, Utkus, Algirdas, Vaidiswaran, Priya, Valton, Luc, van Baalen, Andreas, Vetro, Annalisa, Vining, Eileen P. G., Visscher, Frank, von Brauchitsch, Sophie, von Wrede, Randi, Wagner, Ryan G., Weber, Yvonne G., Weckhuysen, Sarah, Weisenberg, Judith, Weller, Michael, Widdess-Walsh, Peter, Wolff, Markus, Wolking, Stefan, Wu, David, Yamakawa, Kazuhiro, Yang, Wanling, Yap'c', Zuhal, Yücesan, Emrah, Zagaglia, Sara, Zahnert, Felix, Zara, Federico, Zhou, Wei, Zimprich, Fritz, Zsurka, Gábor and Zulfiqar Ali, Quratulain 2023. GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture. Nature Genetics 55 (9) , pp. 1471-1482. 10.1038/s41588-023-01485-w https://doi.org/10.1038/s41588-023-01485-w file https://orca.cardiff.ac.uk/id/eprint/168241/1/Complex%20Epilepsies.%20Genome%20s41588-023-01485-w.pdf

الاتاحة: https://orca.cardiff.ac.uk/id/eprint/168241/
https://doi.org/10.1038/s41588-023-01485-w
https://orca.cardiff.ac.uk/id/eprint/168241/1/Complex%20Epilepsies.%20Genome%20s41588-023-01485-w.pdf

المؤلفون: Yamamoto, Kaoru, Baba, Shimpei, Saito, Takashi, Nakagawa, Eiji, Sugai, Kenji, Iwasaki, Masaki, Fujita, Atsushi, Fukuda, Hiromi, Mizuguchi, Takeshi, Kato, Mitsuhiro, Matsumoto, Naomichi, Sasaki, Masayuki

المساهمون: Japan Agency for Medical Research and Development

المصدر: Epilepsia Open ; volume 8, issue 2, page 651-658 ; ISSN 2470-9239 2470-9239

الاتاحة: http://dx.doi.org/10.1002/epi4.12705
https://onlinelibrary.wiley.com/doi/pdf/10.1002/epi4.12705
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/epi4.12705