Hasil Pencarian - Carmelo Piscopo

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  1. 1
    Expanding the Phenotype of the CACNA1C-Associated Neurological Disorders in Children: Systematic Literature Review and Description of a Novel Mutation

    Expanding the Phenotype of the CACNA1C-Associated Neurological Disorders in Children: Systematic Literature Review and Description of a Novel Mutation oleh Lorenzo Cipriano, Raffaele Piscopo, Chiara Aiello, Antonio Novelli, Achille Iolascon, Carmelo Piscopo

    Diterbitkan 2024-04-01
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  2. 2
    An integration into the diagnostic workflow in a pediatric patient suspected of having Marfan syndrome

    An integration into the diagnostic workflow in a pediatric patient suspected of having Marfan syndrome oleh Maria Oro, Marina Tarsitano, Maria Rivieccio, Carmelo Piscopo, Maria Teresa Petti, Nenad Bukvic, Matteo Della Monica, Massimiliano Chetta

    Diterbitkan 2022-11-01
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  3. 3
    Case Report: A Novel Homozygous Missense Variant of FBN3 Supporting It Is a New Candidate Gene Causative of a Bardet–Biedl Syndrome–Like Phenotype

    Case Report: A Novel Homozygous Missense Variant of FBN3 Supporting It Is a New Candidate Gene Causative of a Bardet–Biedl Syndrome–Like Phenotype oleh Maria Luce Genovesi, Barbara Torres, Marina Goldoni, Eliana Salvo, Claudia Cesario, Massimo Majolo, Tommaso Mazza, Carmelo Piscopo, Laura Bernardini

    Diterbitkan 2022-07-01
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  4. 4
    Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship

    Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship oleh Achille Iolascon, Roberta Russo, Maria Rosaria Esposito, Roberta Asci, Carmelo Piscopo, Silverio Perrotta, Madeleine Fénéant-Thibault, Loïc Garçon, Jean Delaunay

    Diterbitkan 2010-05-01
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  5. 5
    De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review

    De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review oleh Maria Anna Siano, Ilaria De Maggio, Roberta Petillo, Dario Cocciadiferro, Emanuele Agolini, Massimo Majolo, Antonio Novelli, Matteo Della Monica, Carmelo Piscopo

    Diterbitkan 2022-03-01
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  6. 6
    A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis

    A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis oleh Achille Iolascon, Luigia De Falco, Franck Borgese, Maria Rosaria Esposito, Rosa Anna Avvisati, Pietro Izzo, Carmelo Piscopo, Helene Guizouarn, Andrea Biondani, Antonella Pantaleo, Lucia De Franceschi

    Diterbitkan 2009-08-01
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  7. 7
    Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review

    Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review oleh Aurora Arghir, Sorina Mihaela Papuc, Andreea‐Cristina Tutulan‐Cunita, Alina Erbescu, Sara Loddo, Silvia Genovese, Laura Ciocca, Marina Goldoni, Carmelo Piscopo, Laura Bernardini, Antonio Novelli, Magdalena Budisteanu

    Diterbitkan 2021-01-01
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  8. 8
    Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19

    Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19 oleh Immacolata Andolfo, Roberta Russo, Vito Alessandro Lasorsa, Sueva Cantalupo, Barbara Eleni Rosato, Ferdinando Bonfiglio, Giulia Frisso, Pasquale Abete, Gian Marco Cassese, Giuseppe Servillo, Gabriella Esposito, Ivan Gentile, Carmelo Piscopo, Romolo Villani, Giuseppe Fiorentino, Pellegrino Cerino, Carlo Buonerba, Biancamaria Pierri, Massimo Zollo, Achille Iolascon, Mario Capasso

    Diterbitkan 2021-04-01
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  9. 9
    Regulatory Noncoding and Predicted Pathogenic Coding Variants of <i>CCR5</i> Predispose to Severe COVID-19

    Regulatory Noncoding and Predicted Pathogenic Coding Variants of <i>CCR5</i> Predispose to Severe COVID-19 oleh Sueva Cantalupo, Vito Alessandro Lasorsa, Roberta Russo, Immacolata Andolfo, Giuseppe D’Alterio, Barbara Eleni Rosato, Giulia Frisso, Pasquale Abete, Gian Marco Cassese, Giuseppe Servillo, Ivan Gentile, Carmelo Piscopo, Matteo Della Monica, Giuseppe Fiorentino, Giuseppe Russo, Pellegrino Cerino, Carlo Buonerba, Biancamaria Pierri, Massimo Zollo, Achille Iolascon, Mario Capasso

    Diterbitkan 2021-05-01
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  10. 10
    Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis

    Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis oleh Tiziana Fioretti, Fabrizio Martora, Ilaria De Maggio, Adelaide Ambrosio, Carmelo Piscopo, Sabrina Vallone, Felice Amato, Diego Passaro, Fabio Acquaviva, Francesca Gaudiello, Daniela Di Girolamo, Valeria Maiolo, Federica Zarrilli, Speranza Esposito, Giuseppina Vitiello, Luigi Auricchio, Elena Sammarco, Daniele De Brasi, Roberta Petillo, Antonella Gambale, Fabio Cattaneo, Rosario Ammendola, Paola Nappa, Gabriella Esposito

    Diterbitkan 2024-05-01
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  11. 11
    Carriers of <i>ADAMTS13</i> Rare Variants Are at High Risk of Life-Threatening COVID-19

    Carriers of <i>ADAMTS13</i> Rare Variants Are at High Risk of Life-Threatening COVID-19 oleh Kristina Zguro, Margherita Baldassarri, Francesca Fava, Giada Beligni, Sergio Daga, Roberto Leoncini, Lucrezia Galasso, Michele Cirianni, Stefano Rusconi, Matteo Siano, Daniela Francisci, Elisabetta Schiaroli, Sauro Luchi, Giovanna Morelli, Enrico Martinelli, Massimo Girardis, Stefano Busani, Saverio Giuseppe Parisi, Sandro Panese, Carmelo Piscopo, Mario Capasso, Danilo Tacconi, Chiara Spertilli Raffaelli, Annarita Giliberti, Giulia Gori, Peter D. Katsikis, Maria Lorubbio, Paola Calzoni, Agostino Ognibene, Monica Bocchia, Monica Tozzi, Alessandro Bucalossi, Giuseppe Marotta, Simone Furini, GEN-COVID Multicenter Study, Alessandra Renieri, Chiara Fallerini

    Diterbitkan 2022-05-01
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  12. 12
    Mowat-Wilson syndrome: growth charts

    Mowat-Wilson syndrome: growth charts oleh Ivan Ivanovski, Olivera Djuric, Serena Broccoli, Stefano Giuseppe Caraffi, Patrizia Accorsi, Margaret P. Adam, Kristina Avela, Magdalena Badura-Stronka, Allan Bayat, Jill Clayton-Smith, Isabella Cocco, Duccio Maria Cordelli, Goran Cuturilo, Veronica Di Pisa, Juliette Dupont Garcia, Roberto Gastaldi, Lucio Giordano, Andrea Guala, Christina Hoei-Hansen, Mie Inaba, Alessandro Iodice, Jens Erik Klint Nielsen, Vladimir Kuburovic, Brissia Lazalde-Medina, Baris Malbora, Seiji Mizuno, Oana Moldovan, Rikke S. Møller, Petra Muschke, Valeria Otelli, Chiara Pantaleoni, Carmelo Piscopo, Maria Luisa Poch-Olive, Igor Prpic, Purificación Marín Reina, Federico Raviglione, Emilia Ricci, Emanuela Scarano, Graziella Simonte, Robert Smigiel, George Tanteles, Luigi Tarani, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Karin Writzl, Bert Callewaert, Salvatore Savasta, Maria Elisabeth Street, Lorenzo Iughetti, Sergio Bernasconi, Paolo Giorgi Rossi, Livia Garavelli

    Diterbitkan 2020-06-01
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  13. 13
    Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features

    Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features oleh Gabriele Martelloni, Alessio Turchi, Chiara Fallerini, Chiara Fallerini, Andrea Degl’Innocenti, Margherita Baldassarri, Margherita Baldassarri, Simona Olmi, Simone Furini, Alessandra Renieri, Alessandra Renieri, Alessandra Renieri, GEN-COVID Multicenter study, Francesca Mari, Sergio Daga, Ilaria Meloni, Mirella Bruttini, Susanna Croci, Mirjam Lista, Debora Maffeo, Elena Pasquinelli, Giulia Brunelli, Kristina Zguro, Viola Bianca Serio, Enrica Antolini, Simona Letizia Basso, Samantha Minetto, Giulia Rollo, Martina Rozza, Angela Rina, Rossella Tita, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Anna Maria Pinto, Francesca Ariani, Francesca Montagnani, Mario Tumbarello, Ilaria Rancan, Massimiliano Fabbiani, Elena Bargagli, Laura Bergantini, Miriana d’Alessandro, Paolo Cameli, David Bennett, Federico Anedda, Simona Marcantonio, Sabino Scolletta, Federico Franchi, Maria Antonietta Mazzei, Susanna Guerrini, Edoardo Conticini, Luca Cantarini, Bruno Frediani, Danilo Tacconi, Chiara Spertilli Raffaelli, Arianna Emiliozzi, Marco Feri, Alice Donati, Raffaele Scala, Luca Guidelli, Genni Spargi, Marta Corridi, Cesira Nencioni, Leonardo Croci, Gian Piero Caldarelli, Davide Romani, Paolo Piacentini, Maria Bandini, Elena Desanctis, Silvia Cappelli, Anna Canaccini, Agnese Verzuri, Valentina Anemoli, Manola Pisani, Agostino Ognibene, Maria Lorubbio, Alessandro Pancrazzi, Massimo Vaghi, Antonella D’Arminio Monforte, Federica Gaia Miraglia, Mario U. Mondelli, Stefania Mantovani, Raffaele Bruno, Marco Vecchia, Marcello Maffezzoni, Enrico Martinelli, Massimo Girardis, Stefano Busani, Sophie Venturelli, Andrea Cossarizza, Andrea Antinori, Alessandra Vergori, Stefano Rusconi, Matteo Siano, Arianna Gabrieli, Agostino Riva, Daniela Francisci, Elisabetta Schiaroli, Carlo Pallotto, Saverio Giuseppe Parisi, Monica Basso, Sandro Panese, Stefano Baratti, Pier Giorgio Scotton, Francesca Andretta, Mario Giobbia, Renzo Scaggiante, Francesca Gatti, Francesco Castelli, Eugenia Quiros-Roldan, Melania Degli Antoni, Isabella Zanella, Matteo della Monica, Carmelo Piscopo, Mario Capasso, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Giuseppe Fiorentino, Massimo Carella, Marco Castori, Giuseppe Merla, Gabriella Maria Squeo, Filippo Aucella, Pamela Raggi, Rita Perna, Matteo Bassetti, Antonio Di Biagio, Maurizio Sanguinetti, Luca Masucci, Alessandra Guarnaccia, Serafina Valente, Alex Di Florio, Marco Mandalà, Alessia Giorli, Lorenzo Salerni, Patrizia Zucchi, Pierpaolo Parravicini, Elisabetta Menatti, Tullio Trotta, Ferdinando Giannattasio, Gabriella Coiro, Fabio Lena, Gianluca Lacerenza, Cristina Mussini, Luisa Tavecchia, Lia Crotti, Gianfranco Parati, Roberto Menè, Maurizio Sanarico, Marco Gori, Francesco Raimondi, Alessandra Stella, Filippo Biscarini, Tiziana Bachetti, Maria Teresa La Rovere, Maurizio Bussotti, Serena Ludovisi, Katia Capitani, Simona Dei, Sabrina Ravaglia, Annarita Giliberti, Giulia Gori, Rosangela Artuso, Elena Andreucci, Angelica Pagliazzi, Erika Fiorentini, Antonio Perrella, Francesco Bianchi, Paola Bergomi, Emanuele Catena, Riccardo Colombo, Sauro Luchi, Giovanna Morelli, Paola Petrocelli, Sarah Iacopini, Sara Modica, Silvia Baroni, Giulia Micheli, Marco Falcone, Donato Urso, Giusy Tiseo, Tommaso Matucci, Davide Grassi, Claudio Ferri, Franco Marinangeli, Francesco Brancati, Antonella Vincenti, Valentina Borgo, Stefania Lombardi, Mirco Lenzi, Massimo Antonio Di Pietro, Francesca Vichi, Benedetta Romanin, Letizia Attala, Cecilia Costa, Andrea Gabbuti, Alessio Bellucci, Marta Colaneri, Patrizia Casprini, Cristoforo Pomara, Massimiliano Esposito, Roberto Leoncini, Michele Cirianni, Lucrezia Galasso, Marco Antonio Bellini, Chiara Gabbi, Nicola Picchiotti

    Diterbitkan 2024-05-01
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