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

Relation: https://www.frontiersin.org/article/10.3389/fneur.2019.00434/full; https://doaj.org/toc/1664-2295; https://doaj.org/article/87c4911416cb4db6b35cb0e08dc098b1

الاتاحة: https://doi.org/10.3389/fneur.2019.00434
https://doaj.org/article/87c4911416cb4db6b35cb0e08dc098b1

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

Relation: 10779/aru.23779716.v1; https://figshare.com/articles/journal_contribution/The_spectrum_of_intermediate_SCN_8A_related_epilepsy/23779716

الاتاحة: https://figshare.com/articles/journal_contribution/The_spectrum_of_intermediate_SCN_8A_related_epilepsy/23779716

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::21ebdfaf87e545963573263feba11b5c
https://doi.org/10.1007/s10309-020-00380-2

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

Relation: https://figshare.com/articles/dataset/Table_2_Diagnostic_Yield_and_Treatment_Impact_of_Targeted_Exome_Sequencing_in_Early-Onset_Epilepsy_xlsx/8157569

الاتاحة: https://doi.org/10.3389/fneur.2019.00434.s002
https://figshare.com/articles/dataset/Table_2_Diagnostic_Yield_and_Treatment_Impact_of_Targeted_Exome_Sequencing_in_Early-Onset_Epilepsy_xlsx/8157569