المؤلفون: Malavika Hebbar, Nawaf Al-Taweel, Inderpal Gill, Cyrus Boelman, Richard A. Dean, Samuel J. Goodchild, Janette Mezeyova, Noah Gregory Shuart, J. P. Johnson, James Lee, Aspasia Michoulas, Linda L. Huh, Linlea Armstrong, Mary B. Connolly, Michelle K. Demos

المصدر: BMC Neurology, Vol 24, Iss 1, Pp 1-7 (2024)

مصطلحات موضوعية: SCN8A, Developmental and Epileptic Encephalopathy, Epilepsy, Seizure, Electrophysiological study, Variant of Uncertain significance, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1471-2377Test

الوصول الحر: https://doaj.org/article/43583f46e51b463e9cf44723adcab993Test

المؤلفون: Malavika Hebbar, Nawaf Al-Taweel, Inderpal Gill, Cyrus Boelman, Richard A. Dean, Samuel J. Goodchild, Janette Mezeyova, Noah Gregory Shuart, J. P. Johnson, James Lee, Aspasia Michoulas, Linda L. Huh, Linlea Armstrong, Mary B. Connolly, Michelle K. Demos

مصطلحات موضوعية: Medicine, Genetics, Neuroscience, Mental Health, Hematology, SCN8A, Developmental and Epileptic Encephalopathy, Epilepsy, Seizure, Electrophysiological study, Variant of Uncertain significance, Exome sequencing, Loss-of-function, Gain-of-function

العلاقة: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Expanding_the_genotype-phenotype_spectrum_in_SCN8A-related_disorders/25017879Test

الإتاحة: https://doi.org/10.6084/m9.figshare.25017879.v1Test
https://figshare.com/articles/journal_contribution/Additional_file_1_of_Expanding_the_genotype-phenotype_spectrum_in_SCN8A-related_disorders/25017879Test

المؤلفون: Hebbar, Malavika, Al-Taweel, Nawaf, Gill, Inderpal, Boelman, Cyrus, Dean, Richard A., Goodchild, Samuel J., Mezeyova, Janette, Shuart, Noah Gregory, Johnson, J. P., Lee, James, Michoulas, Aspasia, Huh, Linda L., Armstrong, Linlea, Connolly, Mary B., Demos, Michelle K.

المساهمون: Epilepsy Research Fund, Alva Foundation, US National Human Genome Research Institute, Canada Excellence Research Chair

المصدر: BMC Neurology ; volume 24, issue 1 ; ISSN 1471-2377

مصطلحات موضوعية: Neurology (clinical), General Medicine

الإتاحة: https://doi.org/10.1186/s12883-023-03478-yTest

المؤلفون: Michail Michoulas, Ioannis Akkizidis

المصدر: Risk Management Magazine, Vol 18, Iss 1, Pp 43-46 (2023)

مصطلحات موضوعية: csrbb, irrbb, eba, Risk in industry. Risk management, HD61

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2612-3665Test; https://doaj.org/toc/2724-2153Test

الوصول الحر: https://doaj.org/article/37aadf21aa1a4c7bb2b0e021b210baa3Test

المؤلفون: Buchhalter, Jeffrey R, D'Alfonso, Sabrina, Connolly, Mary, Fung, Ernest, Michoulas, Aspasia, Sinasac, David, Singer, Rachel, Smith, Jacklyn, Singh, Narender, Rho, Jong M

المصدر: Epilepsia Open. 2(3)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Brain Disorders, Neurodegenerative, Pediatric, Nutrition, Epilepsy, Neurosciences, Clinical Research, Beta‐hydroxybutyrate, Child, Ketogenic diet, Ketone, Clinical sciences, Biological psychology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8bj5r6dqTest

المؤلفون: Hebbar, M, Al-Taweel, N, Gill, I, Boelman, C, Dean, RA, Goodchild, SJ, Mezeyova, J, Shuart, NG, Johnson, JP, Lee, J, Michoulas, A, Huh, LL, Armstrong, L, Connolly, MB, Demos, M

المصدر: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ; volume 48, issue s3, page S53-S53 ; ISSN 0317-1671 2057-0155

مصطلحات موضوعية: Neurology (clinical), Neurology, General Medicine

الإتاحة: https://doi.org/10.1017/cjn.2021.396Test
https://www.cambridge.org/core/services/aop-cambridge-core/content/view/S0317167121003966Test

المؤلفون: Michelle Demos, Ilaria Guella, Conrado DeGuzman, Marna B. McKenzie, Sarah E. Buerki, Daniel M. Evans, Eric B. Toyota, Cyrus Boelman, Linda L. Huh, Anita Datta, Aspasia Michoulas, Kathryn Selby, Bruce H. Bjornson, Gabriella Horvath, Elena Lopez-Rangel, Clara D. M. van Karnebeek, Ramona Salvarinova, Erin Slade, Patrice Eydoux, Shelin Adam, Margot I. Van Allen, Tanya N. Nelson, Corneliu Bolbocean, Mary B. Connolly, Matthew J. Farrer

المصدر: Frontiers in Neurology, Vol 10 (2019)

مصطلحات موضوعية: targeted WES, early-onset epilepsy, diagnostic yield, cost estimation, Canada, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fneur.2019.00434/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/87c4911416cb4db6b35cb0e08dc098b1Test

المؤلفون: Demos, Michelle, Guella, Ilaria, DeGuzman, Conrado, McKenzie, Marna B, Buerki, Sarah E, Evans, Daniel M, Toyota, Eric B, Boelman, Cyrus, Huh, Linda L, Datta, Anita, Michoulas, Aspasia, Selby, Kathryn, Bjornson, Bruce H, Horvath, Gabriella, Lopez-Rangel, Elena, van Karnebeek, Clara D M, Salvarinova, Ramona, Slade, Erin, Eydoux, Patrice, Adam, Shelin, Van Allen, Margot I, Nelson, Tanya N, Bolbocean, Corneliu, Connolly, Mary B, Farrer, Matthew J

المصدر: Demos, Michelle; Guella, Ilaria; DeGuzman, Conrado; McKenzie, Marna B; Buerki, Sarah E; Evans, Daniel M; Toyota, Eric B; Boelman, Cyrus; Huh, Linda L; Datta, Anita; Michoulas, Aspasia; Selby, Kathryn; Bjornson, Bruce H; Horvath, Gabriella; Lopez-Rangel, Elena; van Karnebeek, Clara D M; Salvarinova, Ramona; Slade, Erin; Eydoux, Patrice; Adam, Shelin; Van Allen, Margot I; Nelson, Tanya N; Bolbocean, Corneliu; Connolly, Mary B; Farrer, Matthew J (2019). Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy. Frontiers in Neurology:10:434.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/181899/1/fneur-10-00434.pdfTest; info:pmid/31164858; urn:issn:1664-2295

الإتاحة: https://doi.org/10.5167/uzh-18189910.3389/fneur.2019.00434Test
https://www.zora.uzh.ch/id/eprint/181899Test/
https://www.zora.uzh.ch/id/eprint/181899/1/fneur-10-00434.pdfTest

المؤلفون: Lagacé, M, Michoulas, A, Demos, M, Connolly, M

المصدر: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ; volume 49, issue s1, page S7-S7 ; ISSN 0317-1671 2057-0155

مصطلحات موضوعية: Neurology (clinical), Neurology, General Medicine

الإتاحة: https://doi.org/10.1017/cjn.2022.104Test
https://www.cambridge.org/core/services/aop-cambridge-core/content/view/S0317167122001044Test

المؤلفون: Tarailo-Graovac, Maja, Shyr, Casper, Ross, Colin J, Horvath, Gabriella A, Salvarinova, Ramona, Ye, Xin C, Zhang, Lin-Hua, Bhavsar, Amit P, Lee, Jessica J Y, Drögemöller, Britt I, Abdelsayed, Mena, Alfadhel, Majid, Armstrong, Linlea, Baumgartner, Matthias R, Burda, Patricie, Connolly, Mary B, Cameron, Jessie, Demos, Michelle, Dewan, Tammie, Dionne, Janis, Evans, A Mark, Friedman, Jan M, Garber, Ian, Lewis, Suzanne, Ling, Jiqiang, Mandal, Rupasri, Mattman, Andre, McKinnon, Margaret, Michoulas, Aspasia, Metzger, Daniel

المصدر: Tarailo-Graovac, Maja; Shyr, Casper; Ross, Colin J; Horvath, Gabriella A; Salvarinova, Ramona; Ye, Xin C; Zhang, Lin-Hua; Bhavsar, Amit P; Lee, Jessica J Y; Drögemöller, Britt I; Abdelsayed, Mena; Alfadhel, Majid; Armstrong, Linlea; Baumgartner, Matthias R; Burda, Patricie; Connolly, Mary B; Cameron, Jessie; Demos, Michelle; Dewan, Tammie; Dionne, Janis; Evans, A Mark; Friedman, Jan M; Garber, Ian; Lewis, Suzanne; Ling, Jiqiang; Mandal, Rupasri; Mattman, Andre; McKinnon, Margaret; Michoulas, Aspasia; Metzger, Daniel; et al (2016). Exome sequencing and the management of neurometabolic disorders. New England Journal of Medicine, 374(23):2246-2255.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/132706/1/ZORA132706.pdfTest; info:pmid/27276562; urn:issn:0028-4793

الإتاحة: https://doi.org/10.5167/uzh-13270610.1056/NEJMoa1515792Test
https://www.zora.uzh.ch/id/eprint/132706Test/
https://www.zora.uzh.ch/id/eprint/132706/1/ZORA132706.pdfTest