Hasil Pencarian - Maria Accadia

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  1. 1
    Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome

    Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome oleh Cesare Rossi, Sherin Ramadan, Cecilia Evangelisti, Cecilia Evangelisti, Simona Ferrari, Maria Accadia, Reha M. Toydemir, Emanuele Panza, Emanuele Panza

    Diterbitkan 2023-02-01
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  2. 2
    Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation

    Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation oleh Manuela Capozza, Iolanda Chinellato, Vito Guarnieri, Natascia Di lorgi, Maria Accadia, Cristina Traggiai, Girolamo Mattioli, Antonio Di Mauro, Nicola Laforgia

    Diterbitkan 2018-10-01
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  3. 3
    Correction to: Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation

    Correction to: Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation oleh Manuela Capozza, Iolanda Chinellato, Vito Guarnieri, Natascia Di Iorgi, Maria Accadia, Cristina Traggiai, Girolamo Mattioli, Antonio Di Mauro, Nicola Laforgia

    Diterbitkan 2019-11-01
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  4. 4
    Long QT syndrome in chromosome 7q35q36.3 deletion involving KCNH2 gene: Warning for chlorpheniramine prescription

    Long QT syndrome in chromosome 7q35q36.3 deletion involving KCNH2 gene: Warning for chlorpheniramine prescription oleh Giuseppe Di Stolfo, Maria Accadia, Sandra Mastroianno, Maria P. Leone, Orazio Palumbo, Pietro Palumbo, Domenico Potenza, Pasquale Maccarone, Michele Sacco, Aldo Russo, Massimo Carella

    Diterbitkan 2019-09-01
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  5. 5
    A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report

    A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report oleh Marina Macchiaiolo, Filippo M. Panfili, Davide Vecchio, Michaela V. Gonfiantini, Fabiana Cortellessa, Cristina Caciolo, Marcella Zollino, Maria Accadia, Marco Seri, Marcello Chinali, Corrado Mammì, Marco Tartaglia, Andrea Bartuli, Paolo Alfieri, Manuela Priolo

    Diterbitkan 2022-06-01
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  6. 6
    Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus.

    Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus. oleh Flavia A M Maggiolini, Stuart Cantsilieris, Pietro D'Addabbo, Michele Manganelli, Bradley P Coe, Beth L Dumont, Ashley D Sanders, Andy Wing Chun Pang, Mitchell R Vollger, Orazio Palumbo, Pietro Palumbo, Maria Accadia, Massimo Carella, Evan E Eichler, Francesca Antonacci

    Diterbitkan 2019-03-01
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  7. 7
    Epicardial Adipose Tissue and IL-13 Response to Myocardial Injury Drives Left Ventricular Remodeling After ST Elevation Myocardial Infarction

    Epicardial Adipose Tissue and IL-13 Response to Myocardial Injury Drives Left Ventricular Remodeling After ST Elevation Myocardial Infarction oleh Valentina Parisi, Valentina Parisi, Serena Cabaro, Serena Cabaro, Vittoria D’Esposito, Vittoria D’Esposito, Laura Petraglia, Maddalena Conte, Maddalena Conte, Pasquale Campana, Gerardo Gerundo, Marianna Abitabile, Andrea Tuccillo, Maria Accadia, Giuseppe Comentale, Emanuele Pilato, Mario Sansone, Dario Leosco, Dario Leosco, Pietro Formisano, Pietro Formisano

    Diterbitkan 2020-10-01
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