Showing 1 - 20 results of 27 for search 'Stefano Castellana', query time: 0.05s
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Multi-Sided Compression Performance Assessment of ABI SOLiD WES Data by Stefano Castellana, Tommaso Mazza
Published 2013-05-01
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High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEE. by Stefano Castellana, Caterina Fusilli, Gianluigi Mazzoccoli, Tommaso Biagini, Daniele Capocefalo, Massimo Carella, Angelo Luigi Vescovi, Tommaso Mazza
Published 2017-06-01
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Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the... by Luigia Cinque, Cristina Angeletti, Alfredo Orrico, Stefano Castellana, Lucia Ferrito, Cristina Ciuoli, Tommaso Mazza, Marco Castori, Vito Guarnieri
Published 2020-12-01
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Compound Phenotype Due to Recessive Variants in <i>LARP7</i> and <i>OTOG</i> Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing by Pietro Palumbo, Orazio Palumbo, Maria Pia Leone, Ester di Muro, Stefano Castellana, Luigi Bisceglia, Tommaso Mazza, Massimo Carella, Marco Castori
Published 2020-03-01
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Connecting the dots: A practical evaluation of web-tools for describing protein dynamics as networks by Francesco Petrizzelli, Tommaso Biagini, Salvatore Daniele Bianco, Salvatore Daniele Bianco, Niccolò Liorni, Niccolò Liorni, Alessandro Napoli, Stefano Castellana, Tommaso Mazza
Published 2022-10-01
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Are Gaming-Enabled Graphic Processing Unit Cards Convenient for Molecular Dynamics Simulation? by Tommaso Biagini, Francesco Petrizzelli, Mauro Truglio, Roberto Cespa, Alessandro Barbieri, Daniele Capocefalo, Stefano Castellana, Maria Florencia Tevy, Massimo Carella, Tommaso Mazza
Published 2019-05-01
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Transcriptome and Gene Fusion Analysis of Synchronous Lesions Reveals lncMRPS31P5 as a Novel Transcript Involved in Colorectal Cancer by Anna Panza, Stefano Castellana, Giuseppe Biscaglia, Ada Piepoli, Luca Parca, Annamaria Gentile, Anna Latiano, Tommaso Mazza, Francesco Perri, Angelo Andriulli, Orazio Palmieri
Published 2020-09-01
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KDM6A missense variants hamper H3 histone demethylation in lung squamous cell carcinoma by Tommaso Biagini, Francesco Petrizzelli, Salvatore Daniele Bianco, Niccolò Liorni, Alessandro Napoli, Stefano Castellana, Angelo Luigi Vescovi, Massimo Carella, Viviana Caputo, Tommaso Mazza
Published 2022-01-01
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Real-time, computer-aided, detection-assisted colonoscopy eliminates differences in adenoma detection rate between trainee and experienced endoscopists by Giuseppe Biscaglia, Francesco Cocomazzi, Marco Gentile, Ilaria Loconte, Alessia Mileti, Rosa Paolillo, Antonella Marra, Stefano Castellana, Tommaso Mazza, Alfredo Di Leo, Francesco Perri
Published 2022-05-01
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Whole Exome Sequencing Reveals a Novel <i>AUTS2</i> In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies by Pietro Palumbo, Ester Di Muro, Maria Accadia, Mario Benvenuto, Marilena Carmela Di Giacomo, Stefano Castellana, Tommaso Mazza, Marco Castori, Orazio Palumbo, Massimo Carella
Published 2021-02-01
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Mucosal Microbiota from Colorectal Cancer, Adenoma and Normal Epithelium Reveals the Imprint of <i>Fusobacterium nucleatum</i> in Cancerogenesis by Orazio Palmieri, Stefano Castellana, Anna Latiano, Tiziana Latiano, Annamaria Gentile, Anna Panza, Marianna Nardella, Davide Ciardiello, Tiziana Pia Latiano, Giuseppe Corritore, Tommaso Mazza, Francesco Perri, Giuseppe Biscaglia
Published 2023-04-01
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Phenotypic Variability of a Pathogenic PKP2 Mutation in an Italian Family Affected by Arrhythmogenic Cardiomyopathy and Juvenile Sudden Death: Considerations From Molecular Autopsy... by Maria Pia Leone, Pietro Palumbo, Johan Saenen, Sandra Mastroianno, Stefano Castellana, Cesare Amico, Tommaso Mazza, Domenico Rosario Potenza, Antonio Petracca, Marco Castori, Massimo Carella, Giuseppe Di Stolfo
Published 2021-05-01
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Exon-Trapping Assay Improves Clinical Interpretation of <i>COL11A1</i> and <i>COL11A2</i> Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia by Lucia Micale, Silvia Morlino, Annalisa Schirizzi, Emanuele Agolini, Grazia Nardella, Carmela Fusco, Stefano Castellana, Vito Guarnieri, Roberta Villa, Maria Francesca Bedeschi, Paola Grammatico, Antonio Novelli, Marco Castori
Published 2020-12-01
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Systematic Analysis of Mouse Genome Reveals Distinct Evolutionary and Functional Properties Among Circadian and Ultradian Genes by Stefano Castellana, Tommaso Mazza, Daniele Capocefalo, Nikolai Genov, Nikolai Genov, Tommaso Biagini, Caterina Fusilli, Felix Scholkmann, Felix Scholkmann, Angela Relógio, Angela Relógio, John B. Hogenesch, Gianluigi Mazzoccoli
Published 2018-08-01
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Novel <i>STAG1</i> Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder by Ester Di Muro, Pietro Palumbo, Mario Benvenuto, Maria Accadia, Marilena Carmela Di Giacomo, Sergio Manieri, Rosaria Abate, Maria Tagliente, Stefano Castellana, Tommaso Mazza, Massimo Carella, Orazio Palumbo
Published 2021-07-01
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The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically i... by Maria Pia Leone, Pietro Palumbo, Orazio Palumbo, Ester Di Muro, Massimiliano Chetta, Nicola Laforgia, Nicoletta Resta, Alessandro Stella, Stefano Castellana, Tommaso Mazza, Marco Castori, Massimo Carella, Nenad Bukvic
Published 2020-05-01
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