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BMC Pregnancy and Childbirth|September 1, 2019
Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduriaElvira Grandone, Pasquale Martinelli, Michela Villani, et al.
Gene|September 14, 2016
In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKURoberta Trunzo, Rosa Santacroce, Nan Shen, et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis|April 5, 2008
Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia A in southern ItalyRosa Santacroce, Rita Santoro, Francesco Sessa, et al.
Genes|February 25, 2023
A Novel DLG1 Variant in a Family with Brugada Syndrome: Clinical Characteristics and In Silico AnalysisMaria d'Apolito, Francesco Santoro, Rosa Santacroce, et al.
Genetic Testing and Molecular Biomarkers|September 1, 2009
Detection of new deletions in a group of Italian patients with Hemophilia A by multiplex ligation-dependent probe amplificationRosa Santacroce, Vittoria Longo, Valeria Bafunno, et al.
Clinical Immunology (Orlando, Fla.)|March 7, 2015
Characterization of patients with angioedema without wheals: the importance of F12 gene screeningDavide Firinu, Valeria Bafunno, Gennaro Vecchione, et al.
Clinical Biochemistry|December 4, 2013
Intra-familiar discordant PKU phenotype explained by mutation analysis in three pedigreesRoberta Trunzo, Rosa Santacroce, Giovanna D'Andrea, et al.
International Journal of Molecular Sciences|February 13, 2025
Genetic Background and Clinical Phenotype in an Italian Cohort with Inherited Arrhythmia Syndromes and Arrhythmogenic Cardiomyopathy (ACM): A Whole-Exome Sequencing StudyMaria d'Apolito, Francesco Santoro, Alessandra Ranaldi, et al.
American Journal of Hematology|October 21, 2004
Characterization of hemoglobin bassett (alpha94Asp-->Ala), a variant with very low oxygen affinityOsheiza Abdulmalik, Martin K Safo, Norma B Lerner, et al.
Clinical Biochemistry|June 25, 2013
Mutation analysis in hyperphenylalaninemia patients from South ItalyRoberta Trunzo, Rosa Santacroce, Giovanna D'Andrea, et al.
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