Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease by Carmela Romano, Emanuele Morena, Simona Petrucci, Simona Petrucci, Selene Diamant, Martina Marconi, Lorena Travaglini, Ginevra Zanni, Maria Piane, Maria Piane, Marco Salvetti, Marco Salvetti, Silvia Romano, Giovanni Ristori, Giovanni Ristori

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Genomic Breakpoints’ Characterization of a Large <i>CHEK2</i> Duplication in an Italian Family with Hereditary Breast Cancer by Aldo Germani, Daniele Guadagnolo, Valentina Salvati, Caterina Micolonghi, Rita Mancini, Gioia Mastromoro, Soha Sadeghi, Simona Petrucci, Antonio Pizzuti, Maria Piane

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Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in Patients with Neuroendocrine Tumors by Antongiulio Faggiano, Beatrice Fazzalari, Nevena Mikovic, Flaminia Russo, Virginia Zamponi, Rossella Mazzilli, Vito Guarnieri, Maria Piane, Vincenzo Visco, Simona Petrucci

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Heterozygous Pathogenic Nonsense Variant in the <i>ATM</i> Gene in a Family with Unusually High Gastric Cancer Susceptibility by Daniele Guadagnolo, Gioia Mastromoro, Enrica Marchionni, Aldo Germani, Fabio Libi, Soha Sadeghi, Camilla Savio, Simona Petrucci, Laura De Marchis, Maria Piane, Antonio Pizzuti

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TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report by Francesco Cava, Ernesto Cristiano, Maria Beatrice Musumeci, Camilla Savio, Aldo Germani, Maria Lo Monaco, Simona Petrucci, Maria Rosaria Torrisi, Camillo Autore, Speranza Rubattu, Maria Piane

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Brain Connectivity Changes in Autosomal Recessive Parkinson Disease: A Model for the Sporadic Form. by Elena Makovac, Mara Cercignani, Laura Serra, Mario Torso, Barbara Spanò, Simona Petrucci, Lucia Ricciardi, Monia Ginevrino, Carlo Caltagirone, Anna Rita Bentivoglio, Enza Maria Valente, Marco Bozzali

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A dangerous food binge: a case report of hypokalemic periodic paralysis and review of current literature by Maria Carolina Colucci, Marica Fabiana Triolo, Simona Petrucci, Flaminia Pugnaloni, Massimiliano Corsino, Melania Evangelisti, Maria Cecilia D’Asdia, Giovanni Di Nardo, Matteo Garibaldi, Gianluca Terrin, Pasquale Parisi

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A New <i>SMAD4</i> Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome by Caterina Micolonghi, Maria Piane, Aldo Germani, Soha Sadeghi, Fabio Libi, Camilla Savio, Marco Fabiani, Rita Mancini, Danilo Ranieri, Antonio Pizzuti, Vito Domenico Corleto, Pasquale Parisi, Vincenzo Visco, Giovanni Di Nardo, Simona Petrucci

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A Novel Nonsense Pathogenic <i>TTN</i> Variant Identified in a Patient with Severe Dilated Cardiomyopathy by Caterina Micolonghi, Marco Fabiani, Erika Pagannone, Camilla Savio, Marta Ricci, Silvia Caroselli, Vittoria Gambioli, Beatrice Musumeci, Aldo Germani, Giacomo Tini, Camillo Autore, Antonio Pizzuti, Vincenzo Visco, Speranza Rubattu, Simona Petrucci, Maria Piane

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The role of genetic testing in suspected fulminant myocarditis: A case report by Raffaella Mistrulli, Caterina Micolonghi, Federico Follesa, Marco Fabiani, Erika Pagannone, Giulia D'Amati, Carla Giordano, Silvia Caroselli, Camilla Savio, Aldo Germani, Antonio Pizzuti, Vincenzo Visco, Simona Petrucci, Speranza Rubattu, Maria Piane, Camillo Autore

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Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature? by Salvatore Sciacchitano, Gian Paolo De Francesco, Maria Piane, Camilla Savio, Claudia De Vitis, Simona Petrucci, Valentina Salvati, Marina Goldoni, Marco Fabiani, Alvaro Mesoraca, Caterina Micolonghi, Barbara Torres, Annalisa Piccinetti, Roberto Pippi, Rita Mancini

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Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing by Damiano Magrì, Vittoria Mastromarino, Giovanna Gallo, Elisabetta Zachara, Federica Re, Piergiuseppe Agostoni, Dario Giordano, Speranza Rubattu, Maurizio Forte, Maria Cotugno, Maria Rosaria Torrisi, Simona Petrucci, Aldo Germani, Camilla Savio, Antonello Maruotti, Massimo Volpe, Camillo Autore, Maria Piane, Beatrice Musumeci

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Beyond <i>BRCA1</i> and <i>BRCA2</i>: Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers by Aldo Germani, Simona Petrucci, Laura De Marchis, Fabio Libi, Camilla Savio, Claudio Amanti, Adriana Bonifacino, Barbara Campanella, Carlo Capalbo, Augusto Lombardi, Stefano Maggi, Mauro Mattei, Mattia Falchetto Osti, Patrizia Pellegrini, Annarita Speranza, Gianluca Stanzani, Valeria Vitale, Antonio Pizzuti, Maria Rosaria Torrisi, Maria Piane

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Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease? by Francesco Cava, Caterina Micolonghi, Caterina Micolonghi, Maria Beatrice Musumeci, Simona Petrucci, Camilla Savio, Marco Fabiani, Giacomo Tini, Aldo Germani, Fabio Libi, Carla Rossi, Vincenzo Visco, Antonio Pizzuti, Antonio Pizzuti, Massimo Volpe, Massimo Volpe, Camillo Autore, Speranza Rubattu, Speranza Rubattu, Maria Piane, Maria Piane

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