Found: 9

Select item for more details and to access through your institution.

  • Severe COVID-19 in Hospitalized Carriers of Single CFTR Pathogenic Variants.

    Published in:
    Journal of Personalized Medicine, 2021, v. 11, n. 6, p. 558, doi. 10.3390/jpm11060558
    By:
    • Baldassarri, Margherita;
    • Fava, Francesca;
    • Fallerini, Chiara;
    • Daga, Sergio;
    • Benetti, Elisa;
    • Zguro, Kristina;
    • Amitrano, Sara;
    • Valentino, Floriana;
    • Doddato, Gabriella;
    • Giliberti, Annarita;
    • Di Sarno, Laura;
    • Palmieri, Maria;
    • Carriero, Miriam Lucia;
    • Alaverdian, Diana;
    • Beligni, Giada;
    • Iuso, Nicola;
    • Castelli, Francesco;
    • Quiros-Roldan, Eugenia;
    • Mondelli, Mario Umberto;
    • Miceli, Rosalba
    Publication type:
    Article

  • Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.

    Published in:
    Brain Sciences (2076-3425), 2021, v. 11, n. 7, p. 936, doi. 10.3390/brainsci11070936
    By:
    • Valentino, Floriana;
    • Bruno, Lucia Pia;
    • Doddato, Gabriella;
    • Giliberti, Annarita;
    • Tita, Rossella;
    • Resciniti, Sara;
    • Fallerini, Chiara;
    • Bruttini, Mirella;
    • Lo Rizzo, Caterina;
    • Mencarelli, Maria Antonietta;
    • Mari, Francesca;
    • Pinto, Anna Maria;
    • Fava, Francesca;
    • Baldassarri, Margherita;
    • Fabbiani, Alessandra;
    • Lamacchia, Vittoria;
    • Benetti, Elisa;
    • Zguro, Kristina;
    • Furini, Simone;
    • Renieri, Alessandra
    Publication type:
    Article

  • Identification of a Novel Pathogenic Variant in the NAGLU Gene in a Child with Neurodevelopmental Delay.

    Published in:
    2022
    By:
    • Bruno, Lucia Pia;
    • Fava, Francesca;
    • Baldassarri, Margherita;
    • Salvati, Virginia M.;
    • Scandurra, Valeria;
    • Canitano, Roberto;
    • Valentino, Floriana;
    • Doddato, Gabriella;
    • Tita, Rossella;
    • Giliberti, Annarita;
    • Renieri, Alessandra;
    • Ariani, Francesca
    Publication type:
    Case Study

  • Clinical and molecular characterization of COVID-19 hospitalized patients.

    Published in:
    PLoS ONE, 2020, v. 15, n. 11, p. 1, doi. 10.1371/journal.pone.0242534
    By:
    • Benetti, Elisa;
    • Giliberti, Annarita;
    • Emiliozzi, Arianna;
    • Valentino, Floriana;
    • Bergantini, Laura;
    • Fallerini, Chiara;
    • Anedda, Federico;
    • Amitrano, Sara;
    • Conticini, Edoardo;
    • Tita, Rossella;
    • d'Alessandro, Miriana;
    • Fava, Francesca;
    • Marcantonio, Simona;
    • Baldassarri, Margherita;
    • Bruttini, Mirella;
    • Mazzei, Maria Antonietta;
    • Montagnani, Francesca;
    • Mandalà, Marco;
    • Bargagli, Elena;
    • Furini, Simone
    Publication type:
    Article

  • Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes.

    Published in:
    2021
    By:
    • Doddato, Gabriella;
    • Valentino, Floriana;
    • Giliberti, Annarita;
    • Papa, Filomena Tiziana;
    • Tita, Rossella;
    • Bruno, Lucia Pia;
    • Resciniti, Sara;
    • Fallerini, Chiara;
    • Benetti, Elisa;
    • Palmieri, Maria;
    • Mencarelli, Maria Antonietta;
    • Fabbiani, Alessandra;
    • Bruttini, Mirella;
    • Orrico, Alfredo;
    • Baldassarri, Margherita;
    • Fava, Francesca;
    • Lopergolo, Diego;
    • Rizzo, Caterina Lo;
    • Lamacchia, Vittoria;
    • Mannucci, Sara
    Publication type:
    Correction Notice

  • Whole Exome Sequencing in BRCA1-2 Candidate Families: The Contribution of Other Cancer Susceptibility Genes.

    Published in:
    Frontiers in Oncology, 2021, v. 11, p. N.PAG, doi. 10.3389/fonc.2021.649435
    By:
    • Doddato, Gabriella;
    • Valentino, Floriana;
    • Giliberti, Annarita;
    • Papa, Filomena Tiziana;
    • Tita, Rossella;
    • Bruno, Lucia Pia;
    • Resciniti, Sara;
    • Fallerini, Chiara;
    • Benetti, Elisa;
    • Palmieri, Maria;
    • Mencarelli, Maria Antonietta;
    • Fabbiani, Alessandra;
    • Bruttini, Mirella;
    • Orrico, Alfredo;
    • Baldassarri, Margherita;
    • Fava, Francesca;
    • Lopergolo, Diego;
    • Lo Rizzo, Caterina;
    • Lamacchia, Vittoria;
    • Mannucci, Sara
    Publication type:
    Article

  • Vitamin D and COVID-19 susceptibility and severity in the COVID-19 Host Genetics Initiative: A Mendelian randomization study.

    Published in:
    2021
    By:
    • Butler-Laporte, Guillaume;
    • Nakanishi, Tomoko;
    • Mooser, Vincent;
    • Morrison, David R.;
    • Abdullah, Tala;
    • Adeleye, Olumide;
    • Mamlouk, Noor;
    • Kimchi, Nofar;
    • Afrasiabi, Zaman;
    • Rezk, Nardin;
    • Giliberti, Annarita;
    • Renieri, Alessandra;
    • Chen, Yiheng;
    • Zhou, Sirui;
    • Forgetta, Vincenzo;
    • Richards, J. Brent
    Publication type:
    journal article

  • A pilot study of next generation sequencing–liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel–Trenaunay syndrome.

    Published in:
    Vascular, 2021, v. 29, n. 1, p. 85, doi. 10.1177/1708538120936421
    By:
    • Palmieri, Maria;
    • Pinto, Anna Maria;
    • di Blasio, Laura;
    • Currò, Aurora;
    • Monica, Valentina;
    • Sarno, Laura Di;
    • Doddato, Gabriella;
    • Baldassarri, Margherita;
    • Frullanti, Elisa;
    • Giliberti, Annarita;
    • Mussolin, Benedetta;
    • Fallerini, Chiara;
    • Molinaro, Francesco;
    • Vaghi, Massimo;
    • Renieri, Alessandra;
    • Primo, Luca
    Publication type:
    Article

  • RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report.

    Published in:
    Frontiers in Oncology, 2020, v. 10, p. N.PAG, doi. 10.3389/fonc.2020.01467
    By:
    • Gelli, Elisa;
    • Fallerini, Chiara;
    • Valentino, Floriana;
    • Giliberti, Annarita;
    • Castiglione, Francesca;
    • Laschi, Lucrezia;
    • Palmieri, Maria;
    • Fabbiani, Alessandra;
    • Tita, Rossella;
    • Mencarelli, Maria Antonietta;
    • Renieri, Alessandra;
    • Ariani, Francesca
    Publication type:
    Article