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Clinical Genetics|November 2, 2025
Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies-30 Years' Experience From a Third Level CenterGiulia Bruna Marchetti, Erica Rosina, Camilla Meossi, et al.American Journal of Medical Genetics. Part A|November 6, 2025
Genotypes and Phenotypes of Patients With TSPEAR-Related Disorder: Evidence of a Predominant Dental PhenotypeDebora Vergani, Lucia Tiberi, Annarita Giliberti, et al.Acta Neurologica Scandinavica|August 16, 2018
Electroclinical features of epilepsy monosomy 1p36 syndrome and their implicationsAlberto Verrotti, Marco Greco, Gaia Varriale, et al.European Journal of Medical Genetics|September 27, 2023
How pain affect real life of children and adults with achondroplasia: A systematic reviewRoberta Onesimo, Elisabetta Sforza, Maria Francesca Bedeschi, et al.European Journal of Medical Genetics|November 24, 2015
Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndromeAlessandro Mussa, Stefania Di Candia, Silvia Russo, et al.Human Mutation|July 11, 2008
A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardationVera M Kalscheuer, Luciana Musante, Cheng Fang, et al.Molecular Genetics & Genomic Medicine|December 2, 2023
Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective studyErica Rosina, Lidia Pezzani, Erika Apuril, et al.American Journal of Medical Genetics. Part A|October 18, 2022
Celiac disease prevalence and predisposing-HLA in a cohort of 93 Williams-Beuren syndrome patientsCecilia Ghisleni, Barbara Parma, Paola Cianci, et al.Journal of Human Genetics|February 12, 2020
Erratum to: Clinical and molecular characterization of Italian patients affected by Cohen syndromeEleni Katzaki, Chiara Pescucci, Vera Uliana, et al.Journal of Human Genetics|November 9, 2007
Clinical and molecular characterization of Italian patients affected by Cohen syndromeEleni Katzaki, Chiara Pescucci, Vera Uliana, et al.Pageof 19