-
1دورية أكاديمية
المؤلفون: Berkovic, Andrea M.Aff1, Aff2, IDs11869024016213_cor1, Stadler, CarlaAff1, Aff2, Fusé, Victoria S.Aff1, Aff2, Picone, NatashaAff3, Aff4, Ibarlucía, Daniela, Juliarena, Maria P.Aff1, Aff2
المصدر: Air Quality, Atmosphere & Health: An International Journal. :1-9
-
2دورية أكاديمية
المؤلفون: M. Criel, A. Vandermeulen, K. Vanhove, C. Van De Kerkhove, K. Nackaerts, M. Lambrecht, P. Berkovic
المصدر: Current Problems in Cancer: Case Reports, Vol 2, Iss , Pp 100035- (2020)
مصطلحات موضوعية: Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
-
3دورية أكاديمية
المؤلفون: Christy W. LaFlamme, Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie J. Russ-Hall, Amy L. Schneider, Emily S. Bonkowski, Edith P. Almanza Fuerte, Talia J. Allan, Miranda Perez-Galey Zalusky, Joy Goffena, Sophia B. Gibson, Denis M. Nyaga, Nico Lieffering, Malavika Hebbar, Emily V. Walker, Daniel Darnell, Scott R. Olsen, Pandurang Kolekar, Mohamed Nadhir Djekidel, Wojciech Rosikiewicz, Haley McConkey, Jennifer Kerkhof, Michael A. Levy, Raissa Relator, Dorit Lev, Tally Lerman-Sagie, Kristen L. Park, Marielle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Genevieve, Gaetan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L. Tedder, Sachin Gupta, Elizabeth A. Jones, Monika Weisz-Hubshman, Shamika Ketkar, Hongzheng Dai, Kim C. Worley, Jill A. Rosenfeld, Hsiao-Tuan Chao, Undiagnosed Diseases Network, Geoffrey Neale, Gemma L. Carvill, University of Washington Center for Rare Disease Research, Zhaoming Wang, Samuel F. Berkovic, Lynette G. Sadleir, Danny E. Miller, Ingrid E. Scheffer, Bekim Sadikovic, Heather C. Mefford
المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-21 (2024)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
-
4دورية أكاديمية
المؤلفون: Mathew Wallis, Simon D. Bodek, Jacob Munro, Haloom Rafehi, Mark F. Bennett, Zimeng Ye, Amy Schneider, Fiona Gardiner, Giulia Valente, Emma Murdoch, Eloise Uebergang, Jacquie Hunter, Chloe Stutterd, Aamira Huq, Lucinda Salmon, Ingrid Scheffer, Dhamidhu Eratne, Stephen Meyn, Chun Y. Fong, Tom John, Saul Mullen, Susan M. White, Natasha J. Brown, George McGillivray, Jesse Chen, Chris Richmond, Andrew Hughes, Emma Krzesinski, Andrew Fennell, Brian Chambers, Renee Santoreneos, Anna Le Fevre, Michael S. Hildebrand, Melanie Bahlo, John Christodoulou, Martin Delatycki, Samuel F. Berkovic
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
مصطلحات موضوعية: Rare disease, Genome sequencing, Mosaicism, Genotype, Phenotype, Undiagnosed disease, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
-
5دورية أكاديمية
المؤلفون: LaFlamme, Christy W.Aff1, Aff2, Rastin, CassandraAff3, Aff4, Sengupta, Soham, Pennington, Helen E.Aff1, Aff5, Russ-Hall, Sophie J., Schneider, Amy L., Bonkowski, Emily S., Almanza Fuerte, Edith P., Allan, Talia J., Zalusky, Miranda Perez-Galey, Goffena, Joy, Gibson, Sophia B.Aff7, Aff8, Nyaga, Denis M., Lieffering, Nico, Hebbar, Malavika, Walker, Emily V., Darnell, Daniel, Olsen, Scott R., Kolekar, Pandurang, Djekidel, Mohamed Nadhir, Rosikiewicz, Wojciech, McConkey, Haley, Kerkhof, Jennifer, Levy, Michael A., Relator, Raissa, Lev, Dorit, Lerman-Sagie, TallyAff14, Aff15, Park, Kristen L., Alders, Marielle, Cappuccio, GerardaAff18, Aff19, Chatron, NicolasAff20, Aff21, Demain, Leigh, Genevieve, David, Lesca, GaetanAff20, Aff21, Roscioli, TonyAff24, Aff25, Aff26, Sanlaville, DamienAff20, Aff21, Tedder, Matthew L., Gupta, Sachin, Jones, Elizabeth A.Aff22, Aff29, Weisz-Hubshman, MonikaAff30, Aff31, Ketkar, Shamika, Dai, Hongzheng, Worley, Kim C., Rosenfeld, Jill A., Chao, Hsiao-TuanAff30, Aff32, Aff33, Aff34, Aff35, Aff36, Neale, Geoffrey, Carvill, Gemma L., Wang, ZhaomingAff11, Aff38, Berkovic, Samuel F., Sadleir, Lynette G., Miller, Danny E.Aff7, Aff39, Aff40, Scheffer, Ingrid E.Aff6, Aff41, Aff42, Sadikovic, BekimAff3, Aff4, IDs41467024501596_cor55, Mefford, Heather C.Aff1, IDs41467024501596_cor56
المصدر: Nature Communications. 15(1)
-
6دورية أكاديمية
المؤلفون: Wallis, MathewAff1, Aff9, Aff10, Bodek, Simon D.Aff1, Aff16, IDs13023024032975_cor2, Munro, JacobAff2, Aff3, Rafehi, HaloomAff2, Aff3, Bennett, Mark F.Aff2, Aff3, Aff4, Ye, Zimeng, Schneider, Amy, Gardiner, Fiona, Valente, Giulia, Murdoch, Emma, Uebergang, EloiseAff1, Aff7, Hunter, Jacquie, Stutterd, ChloeAff1, Aff6, Aff7, Aff8, Huq, AamiraAff1, Aff18, Salmon, LucindaAff1, Aff11, Scheffer, IngridAff1, Aff4, Aff5, Eratne, DhamidhuAff1, Aff4, Aff12, Meyn, Stephen, Fong, Chun Y., John, TomAff1, Aff16, Aff19, Mullen, SaulAff1, Aff4, White, Susan M.Aff6, Aff7, Aff8, Brown, Natasha J.Aff6, Aff7, Aff8, McGillivray, GeorgeAff6, Aff13, Chen, Jesse, Richmond, Chris, Hughes, AndrewAff1, Aff16, Krzesinski, Emma, Fennell, AndrewAff1, Aff17, Chambers, BrianAff1, Aff16, Santoreneos, ReneeAff1, Aff6, Le Fevre, AnnaAff1, Aff2, Aff6, Hildebrand, Michael S., Bahlo, MelanieAff2, Aff3, Christodoulou, JohnAff6, Aff7, Aff8, Delatycki, MartinAff1, Aff6, Aff7, Aff8, Berkovic, Samuel F.Aff1, Aff4
المصدر: Orphanet Journal of Rare Diseases. 19(1)
-
7دورية أكاديمية
المؤلفون: Males, Ivan, Boban, Zvonimir, Kumric, MarkoAff3, Aff4, Vrdoljak, JosipAff3, Aff4, Berkovic, Karlotta, Pogorelic, ZenonAff5, Aff6, IDs4159802463513x_cor6, Bozic, JoskoAff2, Aff3, IDs4159802463513x_cor7
المصدر: Scientific Reports. 14(1)
-
8دورية أكاديمية
المؤلفون: Ivan Males, Zvonimir Boban, Marko Kumric, Josip Vrdoljak, Karlotta Berkovic, Zenon Pogorelic, Josko Bozic
المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
مصطلحات موضوعية: Acute appendicitis, Appendectomy, Machine learning, Pediatric surgery, Children, Medicine, Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
-
9دورية أكاديمية
المؤلفون: Russell Nightscales, Zhibin Chen, Sarah Barnard, Clarissa Auvrez, Gerard Tao, Shobi Sivathamboo, Caitlin Bennett, Maria Rychkova, Wendyl D'Souza, Samuel F. Berkovic, John‐Paul Nicolo, Terence J. O'Brien, Piero Perucca, Ingrid E. Scheffer, Patrick Kwan
المصدر: Epilepsia Open, Vol 9, Iss 2, Pp 602-612 (2024)
مصطلحات موضوعية: diagnosis, Lennox‐Gastaut syndrome, multicenter study, video‐EEG monitoring, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2470-9239
-
10دورية أكاديمية
المؤلفون: Krey, Ilona, Platzer, Konrad, Esterhuizen, Alina, Berkovic, Samuel, Helbig, Ingo, Hildebrand, Michael, Lerche, Holger, Møller, Rikke, Poduri, Annapurna, Sadleir, Lynette, Sisodiya, Sanjay, Weckhuysen, Sarah, Wilmshurst, Jo, Weber, Yvonne, Lemke, Johannes, Cross, J, Lowenstein, Daniel, Mefford, Heathea, Perucca, Piero, Tan, Nigel, Caglayan, Hande, Helbig, Katherine, Singh, Gagandeep
المصدر: Epileptic Disorders: international epilepsy journal with videotape. 24(5)
مصطلحات موضوعية: genetic epilepsy, next-generation sequencing, genetic counseling genetic testing, variant of uncertain significance, precision medicine, Diagnostic Techniques and Procedures, Epilepsy, Genetic Testing, Humans
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/25f6t716