المؤلفون: Raviglione, F, Douzgou, S, Scala, M, Mingarelli, A, D'Arrigo, Stefano, Freri, Elena, Darra ,F, Giglio, S, Bonaglia, MC, Pantaleoni, Chiara, Mastrangelo, M, Epifanio, R, Elia, M, Saletti, Veronica, Morlino, Sara, De Liso, P, Pavaine, J, Spaccini, L, Cattaneo, E, Gardella, E, Møller, RS, Marchese, F, Colonna, C, Gandioli, C, Gobbi, G, Ram, D, Palumbo, O, Carella, M, Germano, M, Tonduti, D, De Angelis, D, Caputo, D, Bergonzini, P, Novara, F, Zuffardi, O, Verrotti, A, Orsini, A, Bonuccelli, A, De Muto, MC, Trivisano, M, Vigevano, F, Granata, Tiziana, Bernardina, BD, Tranchina, A, Striano, P

مصطلحات موضوعية: Epilepsy, Seizures, EEG, Electro-clinical phenotype, Therapy, MEF2C, ADGRV1

العلاقة: https://zenodo.org/communities/bestaTest; https://zenodo.org/record/6200696Test; https://doi.org/10.5281/zenodo.6200696Test; oai:zenodo.org:6200696

الإتاحة: https://doi.org/10.5281/zenodo.6200696Test
https://doi.org/10.1016/j.seizure.2021.03.025Test
https://doi.org/10.5281/zenodo.6200695Test
https://zenodo.org/record/6200696Test

المؤلفون: Sau Wai Cheung, Katia Rocchetti, Chiara Pantaleoni, Pawel Stankiewicz, Maria Clara Bonaglia, Roberto Ciccone, Stefano D'Arrigo, Jeffrey R Hughes, Mary Bertrand, Thomy de Ravel, Nicola Brunetti-Pierri, Erika Della Mina, Christian P. Schaaf, Zhilian Xia, Naftha Jelluma, Orsetta Zuffardi, Renato Borgatti, Claudia A. L. Ruivenkamp, Parul Jayakar, Serena Belli, Alex R. Paciorkowski, V. Reid Sutton

المساهمون: Clinical sciences, Medical Genetics, BRUNETTI PIERRI, Nicola, Paciorkowski, Ar, Ciccone, R, Mina, Ed, Bonaglia, Mc, Borgatti, R, Schaaf, Cp, Sutton, Vr, Xia, Z, Jelluma, N, Ruivenkamp, C, Bertrand, M, de Ravel, Tj, Jayakar, P, Belli, S, Rocchetti, K, Pantaleoni, C, D'Arrigo, S, Hughes, J, Cheung, Sw, Zuffardi, O, Stankiewicz, P.

المصدر: European Journal of Human Genetics, 19(1), 102-107

مصطلحات موضوعية: Adult, Male, Child, preschool, comparative genomic hybridization, Rett syndrome, Biology, Article, Epilepsy/genetics, Epilepsy, Chromosomes, Human, Pair 14/genetics, Gene Duplication, Intellectual disability, Gene duplication, Genetics, medicine, Humans, Nerve Tissue Proteins/genetics, Forkhead Transcription Factors/genetics, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Infant, medicine.disease, Hypotonia, Intellectual Disability/genetics, FOXG1, Language Development Disorders/genetics, Speech delay, Female, medicine.symptom, FOXG1 developmental delay speech delay infantile spasms array CGH rett-syndrome copy number deletion family males haploinsufficiency microduplication microarray features patient, Haploinsufficiency, Developmental Disabilities/genetics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::200fbc29c64dcd4037a7753420903068Test
https://hdl.handle.net/1887/108675Test