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Journal of Electrocardiology|January 7, 2019
Double de novo mutations in dilated cardiomyopathy with cardiac arrestIlenia Monaco, Rosa Santacroce, Graziapia Casavecchia, et al.
Pacing and Clinical Electrophysiology : PACE|February 24, 2026
Unmasking Brugada ECG Pattern in Myotonic Dystrophy Type 2 With an ANK2 VariantMaria d'Apolito, Maria Rosaria D'Apice, Francesco Santoro, et al.
Thrombosis and Haemostasis|November 13, 2002
Polymorphic changes in the 5' flanking region of factor VII have a combined effect on promoter strengthRama Kudaravalli, Theresa Tidd, Mirko Pinotti, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|July 27, 2015
Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsivenessRoberta Trunzo, Rosa Santacroce, Giovanna D'Andrea, et al.
Human Mutation|September 27, 2002
Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing lossAlessandro Ferraris, Eric Rappaport, Rosa Santacroce, et al.
International Journal of Molecular Sciences|September 27, 2025
Clinical and Genetic Heterogeneity of Factor XI Deficiency: Insights from a Southern Italian CohortRosa Santacroce, Giovanna D'Andrea, Giovanni Luca Tiscia, et al.
International Journal of Molecular Sciences|March 13, 2024
De Novo p.Asp3368Gly Variant of Dystrophin Gene Associated with X-Linked Dilated Cardiomyopathy and Skeletal Myopathy: Clinical Features and In Silico AnalysisMaria d'Apolito, Alessandra Ranaldi, Francesco Santoro, et al.
The Journal of Allergy and Clinical Immunology|June 12, 2017
Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedemaValeria Bafunno, Davide Firinu, Maria D'Apolito, et al.
Genes|July 29, 2023
A Novel KCNN2 Variant in a Family with Essential Tremor Plus: Clinical Characteristics and In Silico AnalysisMaria d'Apolito, Caterina Ceccarini, Rosa Savino, et al.
The Journal of Allergy and Clinical Immunology|June 1, 2024
DAB2IP associates with hereditary angioedema: Insights into the role of VEGF signaling in HAE pathophysiologyMaria D'Apolito, Rosa Santacroce, Daniel Osvaldo Vazquez, et al.
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