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Scientific Reports|November 20, 2018
Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescentsRandi Hagerman, Sebastien Jacquemont, Elizabeth Berry-Kravis, et al.Neuro-Oncology|January 15, 2016
Von Hippel-Lindau disease: an evaluation of natural history and functional disabilityAlberto Feletti, Mariagiulia Anglani, Bruno Scarpa, et al.Human Genetics|April 10, 2003
Connexin 26 35delG does not represent a mutational hotspotCaryn R Rothrock, Alessandra Murgia, Edi L Sartorato, et al.European Journal of Human Genetics : EJHG|August 9, 2012
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathyStephanie Fehr, Meredith Wilson, Jenny Downs, et al.Journal of Human Genetics|May 30, 2020
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotypeFederica Cesca, Elisa Bettella, Roberta Polli, et al.Genes|March 28, 2020
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES)Emanuela Leonardi, Mariagrazia Bellini, Maria C Aspromonte, et al.Neuroradiology|June 18, 2018
Rhinencephalon changes in tuberous sclerosis complexRenzo Manara, Davide Brotto, Samuela Bugin, et al.Medical Dosimetry : Official Journal of the American Association of Medical Dosimetrists|August 25, 2016
Technical solutions to reduce mediastinal irradiation in young patients undergoing treatment for lymphomas: Preliminary experienceMichaela Benassi, Luana Di Murro, Barbara Tolu, et al.Metabolic Brain Disease|November 28, 2017
Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohortRaffaele Falsaperla, Maria Stella Vari, Irene Toldo, et al.Acta Oncologica (Stockholm, Sweden)|August 19, 2017
Oligometastatic cancer: stereotactic ablative radiotherapy for patients affected by isolated body metastasisAndrea Lancia, Gianluca Ingrosso, Alessandra Carosi, et al.Pageof 7