Hasil Pencarian - Chiara Fallerini

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  1. 1
    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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  2. 2
    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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  3. 3
    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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  4. 4
    An explainable model of host genetic interactions linked to COVID-19 severity

    An explainable model of host genetic interactions linked to COVID-19 severity oleh Anthony Onoja, Nicola Picchiotti, Chiara Fallerini, Margherita Baldassarri, Francesca Fava, GEN-COVID Multicenter Study, Francesca Colombo, Francesca Chiaromonte, Alessandra Renieri, Simone Furini, Francesco Raimondi

    Diterbitkan 2022-10-01
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  5. 5
    X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases

    X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases oleh Antonio Mastrangelo, Marisa Giani, Elena Groppali, Pierangela Castorina, Giulia Soldà, Giulia Soldà, Michela Robusto, Chiara Fallerini, Mirella Bruttini, Alessandra Renieri, Giovanni Montini, Giovanni Montini

    Diterbitkan 2020-11-01
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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
    Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder

    Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder oleh Laura Bergantini, Margherita Baldassarri, Miriana d’Alessandro, Giulia Brunelli, Gaia Fabbri, Kristina Zguro, Andrea Degl’Innocenti, GEN-COVID Multicenter study, Chiara Fallerini, Elena Bargagli, Alessandra Renieri

    Diterbitkan 2023-06-01
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  8. 8
    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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  9. 9
    Gain- and Loss-of-Function <i>CFTR</i> Alleles Are Associated with COVID-19 Clinical Outcomes

    Gain- and Loss-of-Function <i>CFTR</i> Alleles Are Associated with COVID-19 Clinical Outcomes oleh Margherita Baldassarri, Kristina Zguro, Valeria Tomati, Cristina Pastorino, Francesca Fava, Susanna Croci, Mirella Bruttini, Nicola Picchiotti, Simone Furini, GEN-COVID Multicenter Study, Nicoletta Pedemonte, Chiara Gabbi, Alessandra Renieri, Chiara Fallerini

    Diterbitkan 2022-12-01
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  10. 10
    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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  11. 11
    Author Correction: Assessment of haptoglobin alleles in autism spectrum disorders

    Author Correction: Assessment of haptoglobin alleles in autism spectrum disorders oleh Francesca Anna Cupaioli, Ettore Mosca, Chiara Magri, Massimo Gennarelli, Marco Moscatelli, Maria Elisabetta Raggi, Martina Landini, Nadia Galluccio, Laura Villa, Arianna Bonfanti, Alessandra Renieri, Chiara Fallerini, Alessandra Minelli, Anna Marabotti, Luciano Milanesi, Alessio Fasano, Alessandra Mezzelani

    Diterbitkan 2023-04-01
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  12. 12
    Cell-free DNA next-generation sequencing liquid biopsy as a new revolutionary approach for arteriovenous malformation

    Cell-free DNA next-generation sequencing liquid biopsy as a new revolutionary approach for arteriovenous malformation oleh Maria Palmieri, MS, Aurora Currò, MD, Andrea Tommasi, MD, Laura Di Sarno, MS, Gabriella Doddato, MS, Margheria Baldassarri, MD, Elisa Frullanti, MS, Ann Rita Giliberti, MS, Chiara Fallerini, MS, Angelo Spinazzola, MD, Anna Maria Pinto, MD, PhD, Alessandra Renieri, MD, PhD, Massimo Vaghi, MD

    Diterbitkan 2020-01-01
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  13. 13
    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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  14. 14
    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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  15. 15
    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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  16. 16
    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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  17. 17
    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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  18. 18
    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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  19. 19
    A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death

    A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death oleh Francesca Minnai, Filippo Biscarini, Martina Esposito, Tommaso A. Dragani, Luis Bujanda, Souad Rahmouni, Marta E. Alarcón-Riquelme, David Bernardo, Elena Carnero-Montoro, Maria Buti, Hugo Zeberg, Rosanna Asselta, Manuel Romero-Gómez, GEN-COVID Multicenter Study, Israel Fernandez-Cadenas, Chiara Fallerini, Kristina Zguro, Susanna Croci, Margherita Baldassarri, Mirella Bruttini, Simone Furini, Alessandra Renieri, Francesca Colombo

    Diterbitkan 2024-02-01
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  20. 20
    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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