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1دورية أكاديمية
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
العلاقة: https://www.frontiersin.org/article/10.3389/fneur.2019.00434/fullTest; https://doaj.org/toc/1664-2295Test; https://doaj.org/article/87c4911416cb4db6b35cb0e08dc098b1Test
الإتاحة: https://doi.org/10.3389/fneur.2019.00434Test
https://doaj.org/article/87c4911416cb4db6b35cb0e08dc098b1Test -
2دورية أكاديمية
المؤلفون: Katrine M. Johannesen, Elena Gardella, Alejandra C. Encinas, Anna‐Elina Lehesjoki, Tarja Linnankivi, Michael B. Petersen, Ida C. B. Lund, Susanne Blichfeldt, Maria J. Miranda, Deb K. Pal, Karine Lascelles, Peter Procopis, Alessandro Orsini, Alice Bonuccelli, Thea Giacomini, Ingo Helbig, Christina D. Fenger, Sanjay M. Sisodiya, Laura Hernandez‐Hernandez, S. Krithika, Melissa Rumple, Silvia Masnada, Marialuisa Valente, Cristina Cereda, Lucio Giordano, Patrizia Accorsi, Sarah E. Bürki, Margherita Mancardi, Christian Korff, Renzo Guerrini, Sarah Spiczak, Dorota Hoffman‐Zacharska, Tomasz Mazurczak, Antonietta Coppola, Salvatore Buono, Marilena Vecchi, Michael F. Hammer, Costanza Varesio, Pierangelo Veggiotti, Dennis Lal, Tobias Brünger, Federico Zara, Pasquale Striano, Guido Rubboli, Rikke S. Møller
مصطلحات موضوعية: epilepsy, epilepsy genetics, intellectual disability, SCN8A, voltage‐gated sodium channels
العلاقة: 10779/aru.23779716.v1; https://figshare.com/articles/journal_contribution/The_spectrum_of_intermediate_SCN_8A_related_epilepsy/23779716Test
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المؤلفون: Sarah E. Bürki
المصدر: Zeitschrift für Epileptologie. 34:81-85
مصطلحات موضوعية: Gynecology, medicine.medical_specialty, business.industry, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::21ebdfaf87e545963573263feba11b5cTest
https://doi.org/10.1007/s10309-020-00380-2Test -
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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
مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, targeted WES, early-onset epilepsy, diagnostic yield, cost estimation, Canada
الإتاحة: https://doi.org/10.3389/fneur.2019.00434.s003Test
https://figshare.com/articles/dataset/Table_3_Diagnostic_Yield_and_Treatment_Impact_of_Targeted_Exome_Sequencing_in_Early-Onset_Epilepsy_docx/8157572Test