Hasil Pencarian - Francesca Ariani

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  1. 1
    Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype

    Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype oleh Gabriella Doddato, Gabriella Doddato, Alessandra Fabbiani, Alessandra Fabbiani, Alessandra Fabbiani, Chiara Fallerini, Chiara Fallerini, Mirella Bruttini, Mirella Bruttini, Mirella Bruttini, Theodora Hadjistilianou, Martino Landi, Caterina Coradeschi, Salvatore Grosso, Barbara Tomasini, Maria Antonietta Mencarelli, Alessandra Renieri, Alessandra Renieri, Alessandra Renieri, Francesca Ariani, Francesca Ariani, Francesca Ariani

    Diterbitkan 2023-01-01
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  2. 2
    Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype

    Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype oleh Gabriella Doddato, Gabriella Doddato, Alessandra Fabbiani, Alessandra Fabbiani, Alessandra Fabbiani, Chiara Fallerini, Chiara Fallerini, Mirella Bruttini, Mirella Bruttini, Mirella Bruttini, Theodora Hadjistilianou, Martino Landi, Caterina Coradeschi, Salvatore Grosso, Barbara Tomasini, Maria Antonietta Mencarelli, Alessandra Renieri, Alessandra Renieri, Alessandra Renieri, Francesca Ariani, Francesca Ariani, Francesca Ariani

    Diterbitkan 2021-12-01
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  3. 3
    RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report

    RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report oleh Elisa Gelli, Chiara Fallerini, Floriana Valentino, Annarita Giliberti, Francesca Castiglione, Lucrezia Laschi, Maria Palmieri, Alessandra Fabbiani, Alessandra Fabbiani, Rossella Tita, Maria Antonietta Mencarelli, Alessandra Renieri, Alessandra Renieri, Francesca Ariani, Francesca Ariani

    Diterbitkan 2020-08-01
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  4. 4
    SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures

    SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures oleh Amjad Khan, Amjad Khan, Lucia Pia Bruno, Lucia Pia Bruno, Fadhel Alomar, Muhammad Umair, Muhammad Umair, Anna Maria Pinto, Abid Ali Khan, Alamzeb Khan, Saima, Alessandra Fabbiani, Alessandra Fabbiani, Kristina Zguro, Simone Furini, Maria Antonietta Mencarelli, Alessandra Renieri, Alessandra Renieri, Alessandra Renieri, Sara Resciniti, Sara Resciniti, Karla A. Peña-Guerra, Francisco J. Guzmán-Vega, Stefan T. Arold, Stefan T. Arold, Francesca Ariani, Francesca Ariani, Francesca Ariani, Shahid Niaz Khan

    Diterbitkan 2022-06-01
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  5. 5
    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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  6. 6
    Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors

    Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors oleh Viola Bianca Serio, Viola Bianca Serio, Maria Palmieri, Maria Palmieri, Simona Innamorato, Simona Innamorato, Lorenzo Loberti, Lorenzo Loberti, Lorenzo Loberti, Chiara Fallerini, Chiara Fallerini, Francesca Ariani, Francesca Ariani, Enrica Antolini, Enrica Antolini, Jasmine Covarelli, Jasmine Covarelli, Massimo Vaghi, Massimo Vaghi, Elisa Frullanti, Elisa Frullanti, Alessandra Renieri, Alessandra Renieri, Alessandra Renieri, Anna Maria Pinto

    Diterbitkan 2023-08-01
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  7. 7
    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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  8. 8
    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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  9. 9
    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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  10. 10
    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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  11. 11
    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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  12. 12
    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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  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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