Search Results - Maria Accadia

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

    Published in Frontiers in Genetics (2023-02-01)
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    A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report by 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

    Published in Orphanet Journal of Rare Diseases (2022-06-01)
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