Orazio Palumbo - Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital

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个人简介

Orazio Palumbo currently works at the Division of Medical Genetics, IRCCS Ospedale Casa Sollievo della Sofferenza. Orazio does research in Genetics. T

研究兴趣

论文共 188 篇作者统计合作学者相似作者

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Variant Sub-Tiering, Disease-Gene Associations and Strictness of Clinical Criteria Improves the Interpretation of Variants of Uncertain Significance in Hereditary Cardiomyopathies and Rhythm Disorders

Marco Castori,Sandra Mastroianno, Andrea Fontana,Silvia Morlino, Grazia Nardella, Ester Di Muro, Pietro Palumbo, Maria Pia Leone, Riccardo Pracella,Orazio Palumbo,Antonio Petracca, Domenico Rosario Potenza,Massimo Carella,Giovanni De Luca, Carlo Coli, Raimondo Salvatore Massaro, Rosa De Santis, Lorenzo Vaccaro, Marcella Cesana, Davide Cacchiarelli, Massimiliano Copetti,Carmela Fusco,Giuseppe Di Stolfo

Journal of human geneticsno. 7 (2025): 349-358

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Long-Term Phenotypic Evolution in GRIN2A-Related Disorders: Electroclinical and Genetic Insights from Two Families with Extended Follow-Up

Ester Di Muro, Pietro Palumbo,Massimo Carella, Mario Benvenuto, Maria Rachele Bianchi, Umberto Costantino, Giovanni Di Maggio,Marco Castori, Giuseppe d'Orsi,Orazio Palumbo

Genesno. 3 (2025)

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Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency