Որոնման արդյունքները - Carmelo Piscopo

  • Ցուցադրվում են 1 - 9 արդյունքները 9
Հստակեցնել արդյունքները
  1. 1
    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 ‌ Achille Iolascon, Roberta Russo, Maria Rosaria Esposito, Ramazan Aşçı, Carmelo Piscopo, Silverio Perrotta, Madeleine Fénéant‐Thibault, Loïc Garçon, J. Delaunay

    Հրապարակվել է 2009
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  2. 2
    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 ‌ Achille Iolascon, Luigia De Falco, Franck Borgèse, Maria Rosaria Esposito, Rosa Anna Avvisati, Paola Izzo, Carmelo Piscopo, Hélène Guizouarn, Andrea Biondani, Antonella Pantaleo, Lucia De Franceschi

    Հրապարակվել է 2009
    Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  3. 3
    Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA)

    Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA) ‌ Luigia De Falco, Francesca Totaro, Antonella Nai, Alessia Pagani, Domenico Girelli, Laura Silvestri, Carmelo Piscopo, Natascia Campostrini, Carlo Dufour, Fahd AL Manjomi, Milen Minkov, Dannis G. van Vuurden, Aurora Feliú, Antonis Kattamis, Clara Camaschella, Achille Iolascon

    Հրապարակվել է 2010
    Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  4. 4
    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 ‌ 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

    Հրապարակվել է 2021
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  5. 5
    Mowat-Wilson syndrome: growth charts

    Mowat-Wilson syndrome: growth charts ‌ Ivan Ivanovski, Olivera Djurić, 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 Čuturilo, Veronica Di Pisa, Juliette Dupont Garcia, Roberto Gastaldi, Lucio Giordano, Andrea Guala, Christina Engel Hoei‐Hansen, Mie Inaba, Alessandro Iodice, Jens Erik Nielsen, Vladimir Kuburović, Brissia Lazalde-Medina, Barış Malbora, Seiji Mizuno, Oana Moldovan, Rikke S. Møller, Petra Muschke, Valeria Otelli, Chiara Pantaleoni, Carmelo Piscopo, María Luisa Poch-Olivé, Igor Prpić, Purificación Marín Reina, Federico Raviglione, Emilia Ricci, Emanuela Scarano, Graziella Simonte, Robert Śmigiel, George A. Tanteles, Luigi Tarani, Aurélien Trimouille, Elvis Terci Valera, Samantha A. Schrier Vergano, Karin Writzl, Bert Callewaert, Salvatore Savasta, Maria Elisabeth Street, Lorenzo Iughetti, Sergio Bernasconi, Paolo Giorgi Rossi, Livia Garavelli

    Հրապարակվել է 2020
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  6. 6
    Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

    Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation ‌ Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D. Hicks, Arthur S. Aylsworth, Amedeo A. Azizi, Donald Basel, Gary A. Bellus, Lynne M. Bird, Maria Blazo, Leah W. Burke, Ashley Cannon, Felicity Collins, Colette DeFilippo, Ellen Denayer, M. Cristina Digilio, Shelley K. Dills, Laura Dosa, Robert Greenwood, Cristin Griffis, Punita Gupta, Rachel K. Hachen, Concepción Hernández-Chico, Sandra Janssens, Kristi Jones, Justin T. Jordan, Pekka Kannus, Bruce R. Korf, Andrea M. Lewis, Robert Listernick, Fortunato Lonardo, Maurice J. Mahoney, Mayra Martinez Ojeda, Marie McDonald, Carey McDougall, Nancy J. Mendelsohn, David T. Miller, Mari Mori, Rianne Oostenbrink, Sébastien Perreault, Mary Ella Pierpont, Carmelo Piscopo, Dinel Pond, Linda M. Randolph, Katherine A. Rauen, Surya P. Rednam, S. Lane Rutledge, Veronica Saletti, G. Bradley Schaefer, Elizabeth K. Schorry, Daryl A. Scott, Andrea Shugar, Elizabeth Siqveland, Lois J. Starr, Ashraf Syed, Pamela Trapane, Nicole J. Ullrich, Emily Wakefield, Laurence E. Walsh, Michael F. Wangler, Elaine H. Zackai, Kathleen Claes, Katharina Wimmer, Rick van Minkelen, Alessandro De Luca, Yolanda Martín, Eric Legius, Ludwine Messiaen

    Հրապարակվել է 2018
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  7. 7
    ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

    ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population ‌ Elisa Benetti, Rossella Tita, Ottavia Spiga, Andrea Ciolfi, Giovanni Birolo, Alessandro Bruselles, Gabriella Doddato, Annarita Giliberti, Caterina Marconi, Francesco Musacchia, Tommaso Pippucci, Annalaura Torella, Alfonso Trezza, Floriana Valentino, Margherita Baldassarri, Alfredo Brusco, Rosanna Asselta, Mirella Bruttini, Simone Furini, Marco Seri, Vincenzo Nigro, Giuseppe Matullo, Marco Tartaglia, Francesca Mari, Elisa Frullanti, Chiara Fallerini, Sergio Daga, Susanna Croci, Sara Amitrano, Francesca Fava, Francesca Montagnani, Laura Di Sarno, Andrea Tommasi, Maria Palmieri, Arianna Emiliozzi, Massimiliano Fabbiani, Barbara Rossetti, Giacomo Zanelli, Laura Bergantini, Miriana d’Alessandro, Paolo Cameli, David Bennet, Federico Anedda, Simona Marcantonio, Sabino Scolletta, Federico Franchi, Maria Antonietta Mazzei, Edoardo Conticini, Luca Cantarini, Bruno Frediani, Danilo Tacconi, Marco Feri, Raffaele Scala, Genni Spargi, Marta Corridi, Cesira Nencioni, Gian Piero Caldarelli, Maurizio Spagnesi, Paolo Piacentini, Maria Bandini, Elena Desanctis, Anna Canaccini, Chiara Spertilli, Alice Donati, Luca Guidelli, Leonardo Croci, Agnese Verzuri, Valentina Anemoli, Agostino Ognibene, Massimo Vaghi, Antonella d’Arminio Monforte, Esther Merlini, Mario U. Mondelli, Stefania Mantovani, Serena Ludovisi, Massimo Girardis, Sophie Venturelli, Marco Sita, Andrea Cossarizza, Andrea Antinori, Alessandra Vergori, Stefano Rusconi, Matteo Siano, Arianna Gabrieli, Agostino Riva, Daniela Francisci, Elisabetta Schiaroli, Pier Giorgio Scotton, Francesca Andretta, Sandro Panese, Renzo Scaggiante, Saverio Giuseppe Parisi, Francesco Castelli, Eugenia Quirós-Roldán, Paola Magro, C Minardi, Deborah Castelli, I Polesini, Matteo Della Monica, Carmelo Piscopo

    Հրապարակվել է 2020
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  8. 8
    Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study

    Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study ‌ Chiara Fallerini, Sergio Daga, Stefania Mantovani, Elisa Benetti, Nicola Picchiotti, Daniela Francisci, Francesco Paciosi, Elisabetta Schiaroli, Margherita Baldassarri, Francesca Fava, Maria Palmieri, Serena Ludovisi, Francesco Castelli, Eugenia Quirós-Roldán, Massimo Vaghi, Stefano Rusconi, Matteo Siano, Maria Bandini, Ottavia Spiga, Katia Capitani, Simone Furini, Francesca Mari, Floriana Valentino, Gabriella Doddato, Annarita Giliberti, Rossella Tita, Sara Amitrano, Mirella Bruttini, Susanna Croci, Ilaria Meloni, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Anna Maria Pinto, Laura Di Sarno, Giada Beligni, Andréa Tommasi, Nicola Iuso, Francesca Montagnani, Massimiliano Fabbiani, Barbara Rossetti, Giacomo Zanelli, 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, Marco Feri, Alice Donati, Raffaele Scala, Luca Guidelli, Genni Spargi, Marta Corridi, Cesira Nencioni, Leonardo Croci, Gian Piero Caldarelli, Maurizio Spagnesi, Davide Romani, Paolo Piacentini, Elena Desanctis, Silvia Cappelli, Anna Canaccini, Agnese Verzuri, Valentina Anemoli, Agostino Ognibene, Antonella d’Arminio Monforte, Federica Gaia Miraglia, Massimo Girardis, Sophie Venturelli, Stefano Busani, Andrea Cossarizza, Andrea Antinori, Alessandra Vergori, Arianna Emiliozzi, Arianna Gabrieli, Agostino Riva, Pier Giorgio Scotton, Francesca Andretta, Sandro Panese, Renzo Scaggiante, Francesca Gatti, Saverio Giuseppe Parisi, Stefano Baratti, Melania Degli Antoni, Matteo Della Monica, Carmelo Piscopo, Mario Capasso, Roberta Russo, Immacolata Andolfo, Achille Iolascon

    Հրապարակվել է 2021
    Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  9. 9
    Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients

    Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients ‌ Stefania Mantovani, Sergio Daga, Chiara Fallerini, Margherita Baldassarri, Elisa Benetti, Nicola Picchiotti, Francesca Fava, Anna Gallì, Silvia Zibellini, Mirella Bruttini, Maria Palmieri, Susanna Croci, Sara Amitrano, Diana Alaverdian, Katia Capitani, Simone Furini, Francesca Mari, Ilaria Meloni, Francesca Montagnani, Mario Tumbarello, Ilaria Rancan, Massimiliano Fabbiani, Barbara Rossetti, 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, 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, Alessandro Pancrazzi, Maria Lorubbio, Massimo Vaghi, Antonella d’Arminio Monforte, Federica Gaia Miraglia, Raffaele Bruno, Marco Vecchia, Massimo Girardis, Sophie Venturelli, Stefano Busani, Andrea Cossarizza, Andrea Antinori, Alessandra Vergori, Arianna Emiliozzi, Stefano Rusconi, Matteo Siano, Arianna Gabrieli, Agostino Riva, Daniela Francisci, Elisabetta Schiaroli, Francesco Paciosi, Andrea Tommasi, Pier Giorgio Scotton, Francesca Andretta, Sandro Panese, Stefano Baratti, Renzo Scaggiante, Francesca Gatti, Saverio Giuseppe Parisi, Francesco Castelli, Eugenia Quirós-Roldán, Melania Degli Antoni, Isabella Zanella, Matteo Della Monica, Carmelo Piscopo, Mario Capasso, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Giuseppe Fiorentino, Massimo Carella, Marco Castori, Filippo Aucella

    Հրապարակվել է 2021
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:

Որոնման գործիքներ: