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Children (Basel, Switzerland)|September 28, 2023
Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured SurveySilvia Leoncini, Lidia Boasiako, Diego Lopergolo, et al.Research in Developmental Disabilities|February 13, 2013
Changing the perspective on early development of Rett syndromePeter B Marschik, Walter E Kaufmann, Jeff Sigafoos, et al.Journal of Child Neurology|January 10, 2008
Polydactyly with ectodermal defect, osteopenia, and mental delayRaffaella Zannolli, Sabrina Buoni, Massimo Viviano, et al.Brain & Development|December 19, 2006
Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and GRaffaella Zannolli, Sabrina Buoni, Francesca Macucci, et al.Scientific Reports|July 13, 2025
Rare variants modulating phenotype in NF1 carriersElena Pasquinelli, Giulia Casamassima, Giulia Brunelli, et al.Human Mutation|December 23, 2006
Italian Rett database and biobankKatia Sampieri, Ilaria Meloni, Elisa Scala, et al.American Journal of Medical Genetics. Part A|October 31, 2007
MECP2 deletions and genotype-phenotype correlation in Rett syndromeElisa Scala, Ilaria Longo, Federica Ottimo, et al.European Psychiatry : the Journal of the Association of European Psychiatrists|July 20, 2023
Autism with co-occurring epilepsy care pathway in EuropeMaria A Mendez, Roberto Canitano, Bethany Oakley, et al.American Journal of Human Genetics|June 24, 2008
FOXG1 is responsible for the congenital variant of Rett syndromeFrancesca Ariani, Giuseppe Hayek, Dalila Rondinella, et al.Annals of Neurology|December 15, 2010
Rett syndrome: revised diagnostic criteria and nomenclatureJeffrey L Neul, Walter E Kaufmann, Daniel G Glaze, et al.Pageof 7