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Current Gene Therapy|February 24, 2026
Padlock Assay in Transthyretin Amyloidosis: A Feasibility StudyMaria Grazia Di Certo, Francesca Gabanella, Claudio Passananti, et al.
European Journal of Human Genetics : EJHG|November 6, 2014
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromasValentina Pinna, Valentina Lanari, Paola Daniele, et al.
European Journal of Human Genetics : EJHG|May 31, 2025
MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patientsMarco Fabiani, Caterina Micolonghi, Silvia Caroselli, et al.
European Heart Journal Supplements : Journal of the European Society of Cardiology|May 19, 2025
ANMCO position paper 'Hypertrophic cardiomyopathy: from diagnosis to treatment'Cristina Chimenti, Attilio Iacovoni, Andrea Montalto, et al.
Giornale Italiano Di Cardiologia (2006)|April 28, 2025
[ANMCO Position paper: Hypertrophic cardiomyopathy: from diagnosis to treatment]Cristina Chimenti, Attilio Iacovoni, Andrea Montalto, et al.
Research Square|May 25, 2026
A high-penetrance intergenic variant at 9p21 confers melanoma susceptibilityMaria Teresa Landi, Linh Bui-Raborn, Lorenza Pastorino, et al.
Clinical Genetics|February 19, 2025
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical ManagementGianluca Contrò, Maria Chiara Baroni, Stefano Giuseppe Caraffi, et al.
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