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Brain & Development|April 14, 2009
Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteriaR Artuso, M A Mencarelli, R Polli, et al.Journal of Medical Genetics|July 7, 2009
Novel FOXG1 mutations associated with the congenital variant of Rett syndromeM A Mencarelli, A Spanhol-Rosseto, R Artuso, et al.Epilepsia|March 20, 2015
Epilepsy in Rett syndrome--lessons from the Rett networked databaseAndreea Nissenkorn, Rachel S Levy-Drummer, Ori Bondi, et al.European Journal of Medical Genetics|April 24, 2012
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardationE K Bijlsma, A Collins, F T Papa, et al.Orphanet Journal of Rare Diseases|June 11, 2011
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patientsLucia Micale, Bartolomeo Augello, Carmela Fusco, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 2, 2024
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathyPleuntje J van der Sluijs, Sébastien Moutton, Alexander J M Dingemans, et al.Pageof 6