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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Somatic NGS Analysis of DNA Damage Response (DDR) Genes <i>ATM</i>, <i>MRE11A</i>, <i>RAD50</i>, <i>NBN</i>, and <i>ATR</i> in Locally Advanced Rectal Cancer Treated with Neoadjuva... by Andrea Montori, Aldo Germani, Mario Ferri, Annalisa Milano, Teresa Valentina Ranalli, Maria Piane, Emanuela Pilozzi

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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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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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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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Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the PCNT gene associated with microcephalic osteodysplastic primordial dwarfi... by Maddalena Petraroli, Antonio Percesepe, Maria Piane, Francesca Ormitti, Eleonora Castellone, Margherita Gnocchi, Giulia Messina, Luca Bernardi, Viviana Dora Patianna, Susanna Maria Roberta Esposito, Maria Elisabeth Street

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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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