المؤلفون: Karen L. Oliver, Ingrid E. Scheffer, Colin A. Ellis, Bronwyn E. Grinton, Samuel F. Berkovic, Melanie Bahlo, Zaid Afawi, Dina Amrom, Eva Andermann, Jocelyn F. Bautista, Susannah T. Bellows, Judith Bluvstein, Gregory D. Cascino, Seo-Kyung Chung, Patrick Cossette, Sarah W. Curtis, Norman Delanty, Orrin Devinsky, Dennis Dlugos, Michael P. Epstein, Catharine Freyer, Micheline Gravel, Rebekah V. Harris, Erin L. Heinzen, Olivia J. Henry, Heidi E. Kirsch, Robert C. Knowlton, Eric H. Kossoff, Rebecca Loeb, Daniel H. Lowenstein, Anthony G. Marson, Heather C. Mefford, Paul V. Motika, Terence J. O'Brien, Ruth Ottman, Juliann M. Paolicchi, Slave Petrovski, William O. Pickrell, Mark I. Rees, Lynette G. Sadleir, Jerry J. Shih, Rani K. Singh, Michael C. Smith, Philip E.M. Smith, Rhys H. Thomas, Judith Weisenberg, Peter Widdess-Walsh, Melodie R. Winawer

المصدر: EBioMedicine, Vol 109, Iss , Pp 105404- (2024)

مصطلحات موضوعية: Epilepsy genetics, Familial epilepsies, Genetic modifiers, Polygenic risk, GEFS+, GABRG2, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352396424004407; https://doaj.org/toc/2352-3964

URL الوصول: https://doaj.org/article/0d0f5424442d4240b5c116f34ead7cf1

المؤلفون: Olivia J. Henry, Tommy Stödberg, Sofia Båtelson, Chiara Rasi, Henrik Stranneheim, Anna Wedell

المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 7, Pp n/a-n/a (2023)

مصطلحات موضوعية: deep phenotyping, epilepsy, human phenotype ontology, precision medicine, whole exome sequencing, whole genome sequencing, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/1e9bbd3ec36b4ec1abfd346beee3915d

المؤلفون: Francesca Bisulli, Caterina Tonon, Giorgia Bernabè, Sabina Cevoli, Ilaria Cani, Umberto Pensato, Gloria Stofella, Lilia Volpi, Simone Vidale, Francesca Ceccaroni, Lorenzo Ferri, Roberto Michelucci, Olivia J. Henry, Rocco Liguori, Lorenzo Muccioli, Paolo Tinuper, Giacomo Fornaro, Maria Tappatà, Elena Pasini, Pietro Cortelli

المساهمون: Muccioli L., Pensato U., Bernabe G., Ferri L., Tappata M., Volpi L., Cani I., Henry O.J., Ceccaroni F., Cevoli S., Stofella G., Pasini E., Fornaro G., Tonon C., Vidale S., Liguori R., Tinuper P., Michelucci R., Cortelli P., Bisulli F.

المصدر: Journal of Neurology

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Neurology, Constitutional symptoms, medicine.medical_treatment, Encephalopathy, Clinical Neurology, 03 medical and health sciences, 0302 clinical medicine, Intravenous Immunoglobulin Therapy, medicine, Humans, Adverse effect, Aged, Retrospective Studies, Mechanical ventilation, IVig, Brain Diseases, Original Communication, Respiratory distress, business.industry, SARS-CoV-2, Immunoglobulins, Intravenous, medicine.disease, encephalopathy, 030104 developmental biology, Delirium, Female, Neurology (clinical), medicine.symptom, business, Covid-19, 030217 neurology & neurosurgery

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d7c6d7f851128d0495caa9b18d03006
https://hdl.handle.net/11585/781325

المؤلفون: Mark F. Bennett, Michael S. Hildebrand, Sayaka Kayumi, Mark A. Corbett, Sachin Gupta, Zimeng Ye, Michael Krivanek, Rosemary Burgess, Olivia J. Henry, John A. Damiano, Amber Boys, Jozef Gécz, Melanie Bahlo, Ingrid E. Scheffer, Samuel F. Berkovic

المصدر: Neurology: Genetics
article-version (Version of Record) 3

مصطلحات موضوعية: Neurology (clinical), Article, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bbbddd570cd9dcf54fd7c0a98e4d56d
https://doi.org/10.1212/nxg.0000000000000652