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Molecular Syndromology|June 14, 2019
Novel Mutations and Unreported Clinical Features in KBG SyndromeEmanuela Scarano, Martina Tassone, Claudio Graziano, et al.Journal of Genetic Counseling|November 3, 2020
Preferences of Italian patients for return of secondary findings from clinical genome/exome sequencingLea Godino, Liliana Varesco, William Bruno, et al.The Canadian Journal of Cardiology|March 12, 2021
Coronary Artery Aneurysms in Patients With Marfan Syndrome: Frequent, Progressive, and RelevantElisabetta Mariucci, Lisa Bonori, Luigi Lovato, et al.Journal of Clinical Immunology|May 18, 2018
Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic VariantsElisa A Colombo, Nursel H Elcioglu, Claudio Graziano, et al.Developmental Medicine and Child Neurology|May 20, 2011
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotypeCaterina Garone, Tommaso Pippucci, Duccio M Cordelli, et al.Biomedicines|March 29, 2023
The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian PopulationBeatrice Spedicati, Aurora Santin, Giuseppe Giovanni Nardone, et al.Journal of the Neurological Sciences|October 10, 2017
A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophyGrazia Iannello, Claudio Graziano, Giovanna Cenacchi, et al.Journal of Community Genetics|January 11, 2025
Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method studyLea Godino, Enrico Ambrosini, Valeria Barili, et al.British Journal of Haematology|October 6, 2004
PRV-1, erythroid colonies and platelet Mpl are unrelated to thrombosis in essential thrombocythaemiaAlessandro M Vannucchi, Alberto Grossi, Alessandro Pancrazzi, et al.Gene|May 16, 2019
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disordersPamela Magini, Emanuela Scarano, Ilaria Donati, et al.Pageof 9