Hasil Pencarian - Francesca Mari

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  1. 1
    Triorchidism: Genetic and imaging evaluation in an adult male

    Triorchidism: Genetic and imaging evaluation in an adult male oleh Arben Belba, Valentina Riversi, Francesca Mari, Eleonora Cellesi, Roberto Ponchietti

    Diterbitkan 2014-06-01
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  2. 2
    MET is a new confirmed gene responsible for familial distal arthrogryposis

    MET is a new confirmed gene responsible for familial distal arthrogryposis oleh Debora Maffeo, Anna Carrer, Angela Rina, Loredaria Adamo, Caterina Lo Rizzo, Mirella Bruttini, Alessandra Renieri, Francesca Mari

    Diterbitkan 2024-03-01
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  3. 3
    Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress

    Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress oleh Valentina Imperatore, Maria Antonietta Mencarelli, Chiara Fallerini, Laura Bianciardi, Francesca Ariani, Simone Furini, Alessandra Renieri, Francesca Mari, Elisa Frullanti

    Diterbitkan 2016-02-01
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  4. 4
    An Example of Neuro-Glial Commitment and Differentiation of Muse Stem Cells Obtained from Patients with <i>IQSEC2</i>-Related Neural Disorder: A Possible New Cell-Based Disease Model

    An Example of Neuro-Glial Commitment and Differentiation of Muse Stem Cells Obtained from Patients with <i>IQSEC2</i>-Related Neural Disorder: A Possible New Cell-Based Disease Mod... oleh Sura Hilal Ahmed Al Sammarraie, Domenico Aprile, Ilaria Meloni, Nicola Alessio, Francesca Mari, Marianna Manata, Caterina Lo Rizzo, Giovanni Di Bernardo, Gianfranco Peluso, Alessandra Renieri, Umberto Galderisi

    Diterbitkan 2023-03-01
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  5. 5
    Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder

    Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder oleh Flavia Privitera, Maria A. Trusso, Floriana Valentino, Gabriella Doddato, Chiara Fallerini, Giulia Brunelli, Romina D’Aurizio, Simone Furini, Arianna Goracci, Andrea Fagiolini, Francesca Mari, Alessandra Renieri, Francesca Ariani

    Diterbitkan 2023-03-01
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  6. 6
    Revealing the complexity of a monogenic disease: rett syndrome exome sequencing.

    Revealing the complexity of a monogenic disease: rett syndrome exome sequencing. oleh Elisa Grillo, Caterina Lo Rizzo, Laura Bianciardi, Veronica Bizzarri, Margherita Baldassarri, Ottavia Spiga, Simone Furini, Claudio De Felice, Cinzia Signorini, Silvia Leoncini, Alessandra Pecorelli, Lucia Ciccoli, Maria Antonietta Mencarelli, Joussef Hayek, Ilaria Meloni, Francesca Ariani, Francesca Mari, Alessandra Renieri

    Diterbitkan 2013-01-01
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  7. 7
    Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes

    Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes oleh Gabriella Doddato, Gabriella Doddato, Floriana Valentino, Floriana Valentino, Annarita Giliberti, Annarita Giliberti, Filomena Tiziana Papa, Filomena Tiziana Papa, Rossella Tita, Lucia Pia Bruno, Lucia Pia Bruno, Sara Resciniti, Sara Resciniti, Chiara Fallerini, Chiara Fallerini, Elisa Benetti, Maria Palmieri, Maria Palmieri, Maria Antonietta Mencarelli, Alessandra Fabbiani, Alessandra Fabbiani, Alessandra Fabbiani, Mirella Bruttini, Mirella Bruttini, Alfredo Orrico, Margherita Baldassarri, Margherita Baldassarri, Francesca Fava, Francesca Fava, Francesca Fava, Diego Lopergolo, Diego Lopergolo, Diego Lopergolo, Caterina Lo Rizzo, Vittoria Lamacchia, Vittoria Lamacchia, Vittoria Lamacchia, Sara Mannucci, Sara Mannucci, Sara Mannucci, Anna Maria Pinto, Aurora Currò, Aurora Currò, Aurora Currò, Virginia Mancini, Oncologic Multidisciplinary Team, Azienda Ospedaliera Universitaria Senese, Oncologic Multidisciplinary Team, Azienda Usl Toscana Sud Est, Francesca Mari, Francesca Mari, Francesca Mari, Alessandra Renieri, Alessandra Renieri, Alessandra Renieri, Francesca Ariani, Francesca Ariani, Francesca Ariani

    Diterbitkan 2021-08-01
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  8. 8
    Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations

    Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations oleh Floriana Valentino, Lucia Pia Bruno, Gabriella Doddato, Annarita Giliberti, Rossella Tita, Sara Resciniti, Chiara Fallerini, Mirella Bruttini, Caterina Lo Rizzo, Maria Antonietta Mencarelli, Francesca Mari, Anna Maria Pinto, Francesca Fava, Margherita Baldassarri, Alessandra Fabbiani, Vittoria Lamacchia, Elisa Benetti, Kristina Zguro, Simone Furini, Alessandra Renieri, Francesca Ariani

    Diterbitkan 2021-07-01
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  9. 9
    New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing

    New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing oleh Lucia Pia Bruno, Gabriella Doddato, Floriana Valentino, Margherita Baldassarri, Rossella Tita, Chiara Fallerini, Mirella Bruttini, Caterina Lo Rizzo, Maria Antonietta Mencarelli, Francesca Mari, Anna Maria Pinto, Francesca Fava, Alessandra Fabbiani, Vittoria Lamacchia, Anna Carrer, Valentina Caputo, Stefania Granata, Elisa Benetti, Kristina Zguro, Simone Furini, Alessandra Renieri, Francesca Ariani

    Diterbitkan 2021-12-01
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  10. 10
    Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes

    Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes oleh Gabriella Doddato, Gabriella Doddato, Floriana Valentino, Floriana Valentino, Annarita Giliberti, Annarita Giliberti, Filomena Tiziana Papa, Filomena Tiziana Papa, Rossella Tita, Lucia Pia Bruno, Lucia Pia Bruno, Sara Resciniti, Sara Resciniti, Chiara Fallerini, Chiara Fallerini, Elisa Benetti, Maria Palmieri, Maria Palmieri, Maria Antonietta Mencarelli, Alessandra Fabbiani, Alessandra Fabbiani, Alessandra Fabbiani, Mirella Bruttini, Mirella Bruttini, Alfredo Orrico, Margherita Baldassarri, Margherita Baldassarri, Francesca Fava, Francesca Fava, Francesca Fava, Diego Lopergolo, Diego Lopergolo, Diego Lopergolo, Caterina Lo Rizzo, Vittoria Lamacchia, Vittoria Lamacchia, Vittoria Lamacchia, Sara Mannucci, Sara Mannucci, Sara Mannucci, Anna Maria Pinto, Aurora Currò, Aurora Currò, Aurora Currò, Virginia Mancini, Oncologic Multidisciplinary Team, Azienda Ospedaliera Universitaria Senese, Oncologic Multidisciplinary Team, Azienda Usl Toscana Sud Est, Francesca Mari, Francesca Mari, Francesca Mari, Alessandra Renieri, Alessandra Renieri, Alessandra Renieri, Francesca Ariani, Francesca Ariani, Francesca Ariani, Alessandro Neri, Donato Casella, Andrea Bernini, Stefania Marsili, Roberto Petrioli, Salvatora Tindara Miano, Alessandra Pascucci, Ignazio Martellucci, Monica Crociani, Marta Vannini, Federica Fantozzi, Andrea Stella, Alessia Carmela Tripodi, Angelamaria Giusti, Alfonso Fausto, Lucia Mantovani, Francesca Belardi

    Diterbitkan 2021-05-01
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  11. 11
    Clinical and molecular characterization of COVID-19 hospitalized patients.

    Clinical and molecular characterization of COVID-19 hospitalized patients. oleh Elisa Benetti, Annarita Giliberti, Arianna Emiliozzi, Floriana Valentino, Laura Bergantini, Chiara Fallerini, Federico Anedda, Sara Amitrano, Edoardo Conticini, Rossella Tita, Miriana d'Alessandro, Francesca Fava, Simona Marcantonio, Margherita Baldassarri, Mirella Bruttini, Maria Antonietta Mazzei, Francesca Montagnani, Marco Mandalà, Elena Bargagli, Simone Furini, GEN-COVID Multicenter Study, Alessandra Renieri, Francesca Mari

    Diterbitkan 2020-01-01
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  12. 12
    SELP Asp603Asn and severe thrombosis in COVID-19 males

    SELP Asp603Asn and severe thrombosis in COVID-19 males oleh Chiara Fallerini, Sergio Daga, Elisa Benetti, Nicola Picchiotti, Kristina Zguro, Francesca Catapano, Virginia Baroni, Simone Lanini, Alessandro Bucalossi, Giuseppe Marotta, Francesca Colombo, Margherita Baldassarri, Francesca Fava, Giada Beligni, Laura Di Sarno, Diana Alaverdian, Maria Palmieri, Susanna Croci, Andrea M. Isidori, Simone Furini, Elisa Frullanti, GEN-COVID Multicenter Study, Alessandra Renieri, Francesca Mari

    Diterbitkan 2021-08-01
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  13. 13
    Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males

    Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males oleh Chiara Fallerini, Sergio Daga, Elisa Benetti, Nicola Picchiotti, Kristina Zguro, Francesca Catapano, Virginia Baroni, Simone Lanini, Alessandro Bucalossi, Giuseppe Marotta, Francesca Colombo, Margherita Baldassarri, Francesca Fava, Giada Beligni, Laura Di Sarno, Diana Alaverdian, Maria Palmieri, Susanna Croci, Andrea M. Isidori, Simone Furini, Elisa Frullanti, on behalf of GEN-COVID Multicenter Study, Alessandra Renieri, Francesca Mari

    Diterbitkan 2023-02-01
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  14. 14
    Clinical and molecular characterization of COVID-19 hospitalized patients

    Clinical and molecular characterization of COVID-19 hospitalized patients oleh Elisa Benetti, Annarita Giliberti, Arianna Emiliozzi, Floriana Valentino, Laura Bergantini, Chiara Fallerini, Federico Anedda, Sara Amitrano, Edoardo Conticini, Rossella Tita, Miriana d’Alessandro, Francesca Fava, Simona Marcantonio, Margherita Baldassarri, Mirella Bruttini, Maria Antonietta Mazzei, Francesca Montagnani, Marco Mandalà, Elena Bargagli, Simone Furini, GEN-COVID Multicenter Study, Alessandra Renieri, Francesca Mari, Giordano Madeddu

    Diterbitkan 2020-01-01
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  15. 15
    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 oleh 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 Quiros-Roldan, Massimo Vaghi, Stefano Rusconi, Matteo Siano, Maria Bandini, Ottavia Spiga, Katia Capitani, Simone Furini, Francesca Mari, GEN-COVID Multicenter Study, Alessandra Renieri, Mario U Mondelli, Elisa Frullanti

    Diterbitkan 2021-03-01
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  16. 16
    Analysis of the Phenotypes in the Rett Networked Database

    Analysis of the Phenotypes in the Rett Networked Database oleh Elisa Frullanti, Filomena T. Papa, Elisa Grillo, Angus Clarke, Bruria Ben-Zeev, Mercedes Pineda, Nadia Bahi-Buisson, Thierry Bienvenu, Judith Armstrong, Ana Roche Martinez, Francesca Mari, Andreea Nissenkorn, Caterina Lo Rizzo, Edvige Veneselli, Silvia Russo, Aglaia Vignoli, Giorgio Pini, Milena Djuric, Anne-Marie Bisgaard, Kirstine Ravn, Vlatka Mejaski Bosnjak, Joussef Hayek, Rajni Khajuria, Barbara Montomoli, Francesca Cogliati, Maria Pintaudi, Kinga Hadzsiev, Dana Craiu, Victoria Voinova, Aleksandra Djukic, Laurent Villard, Alessandra Renieri

    Diterbitkan 2019-01-01
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  17. 17
    Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males

    Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males oleh Margherita Baldassarri, Nicola Picchiotti, Francesca Fava, Chiara Fallerini, Elisa Benetti, Sergio Daga, Floriana Valentino, Gabriella Doddato, Simone Furini, Annarita Giliberti, Rossella Tita, Sara Amitrano, Mirella Bruttini, Susanna Croci, Ilaria Meloni, Anna Maria Pinto, Nicola Iuso, Chiara Gabbi, Francesca Sciarra, Mary Anna Venneri, Marco Gori, Maurizio Sanarico, Francis P. Crawley, Uberto Pagotto, Flaminia Fanelli, Marco Mezzullo, Elena Dominguez-Garrido, Laura Planas-Serra, Agatha Schlüter, Roger Colobran, Pere Soler-Palacin, Pablo Lapunzina, Jair Tenorio, Aurora Pujol, Maria Grazia Castagna, Marco Marcelli, Andrea M. Isidori, Alessandra Renieri, Elisa Frullanti, Francesca Mari

    Diterbitkan 2021-03-01
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  18. 18
    Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.

    Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative. oleh Guillaume Butler-Laporte, Gundula Povysil, Jack A Kosmicki, Elizabeth T Cirulli, Theodore Drivas, Simone Furini, Chadi Saad, Axel Schmidt, Pawel Olszewski, Urszula Korotko, Mathieu Quinodoz, Elifnaz Çelik, Kousik Kundu, Klaudia Walter, Junghyun Jung, Amy D Stockwell, Laura G Sloofman, Daniel M Jordan, Ryan C Thompson, Diane Del Valle, Nicole Simons, Esther Cheng, Robert Sebra, Eric E Schadt, Seunghee Kim-Schulze, Sacha Gnjatic, Miriam Merad, Joseph D Buxbaum, Noam D Beckmann, Alexander W Charney, Bartlomiej Przychodzen, Timothy Chang, Tess D Pottinger, Ning Shang, Fabian Brand, Francesca Fava, Francesca Mari, Karolina Chwialkowska, Magdalena Niemira, Szymon Pula, J Kenneth Baillie, Alex Stuckey, Antonio Salas, Xabier Bello, Jacobo Pardo-Seco, Alberto Gómez-Carballa, Irene Rivero-Calle, Federico Martinón-Torres, Andrea Ganna, Konrad J Karczewski, Kumar Veerapen, Mathieu Bourgey, Guillaume Bourque, Robert Jm Eveleigh, Vincenzo Forgetta, David Morrison, David Langlais, Mark Lathrop, Vincent Mooser, Tomoko Nakanishi, Robert Frithiof, Michael Hultström, Miklos Lipcsey, Yanara Marincevic-Zuniga, Jessica Nordlund, Kelly M Schiabor Barrett, William Lee, Alexandre Bolze, Simon White, Stephen Riffle, Francisco Tanudjaja, Efren Sandoval, Iva Neveux, Shaun Dabe, Nicolas Casadei, Susanne Motameny, Manal Alaamery, Salam Massadeh, Nora Aljawini, Mansour S Almutairi, Yaseen M Arabi, Saleh A Alqahtani, Fawz S Al Harthi, Amal Almutairi, Fatima Alqubaishi, Sarah Alotaibi, Albandari Binowayn, Ebtehal A Alsolm, Hadeel El Bardisy, Mohammad Fawzy, Fang Cai, Nicole Soranzo, Adam Butterworth, COVID-19 Host Genetics Initiative, DeCOI Host Genetics Group, GEN-COVID Multicenter Study (Italy), Mount Sinai Clinical Intelligence Center, GEN-COVID consortium (Spain), GenOMICC Consortium, Japan COVID-19 Task Force, Regeneron Genetics Center, Daniel H Geschwind, Stephanie Arteaga, Alexis Stephens, Manish J Butte, Paul C Boutros, Takafumi N Yamaguchi, Shu Tao, Stefan Eng, Timothy Sanders, Paul J Tung, Michael E Broudy, Yu Pan, Alfredo Gonzalez, Nikhil Chavan, Ruth Johnson, Bogdan Pasaniuc, Brian Yaspan, Sandra Smieszek, Carlo Rivolta, Stephanie Bibert, Pierre-Yves Bochud, Maciej Dabrowski, Pawel Zawadzki, Mateusz Sypniewski, Elżbieta Kaja, Pajaree Chariyavilaskul, Voraphoj Nilaratanakul, Nattiya Hirankarn, Vorasuk Shotelersuk, Monnat Pongpanich, Chureerat Phokaew, Wanna Chetruengchai, Katsushi Tokunaga, Masaya Sugiyama, Yosuke Kawai, Takanori Hasegawa, Tatsuhiko Naito, Ho Namkoong, Ryuya Edahiro, Akinori Kimura, Seishi Ogawa, Takanori Kanai, Koichi Fukunaga, Yukinori Okada, Seiya Imoto, Satoru Miyano, Serghei Mangul, Malak S Abedalthagafi, Hugo Zeberg, Joseph J Grzymski, Nicole L Washington, Stephan Ossowski, Kerstin U Ludwig, Eva C Schulte, Olaf Riess, Marcin Moniuszko, Miroslaw Kwasniewski, Hamdi Mbarek, Said I Ismail, Anurag Verma, David B Goldstein, Krzysztof Kiryluk, Alessandra Renieri, Manuel A R Ferreira, J Brent Richards

    Diterbitkan 2022-11-01
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  19. 19
    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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