Search Results - Marina Macchiaiolo

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    A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing by Marina Macchiaiolo, Sabina Barresi, Francesco Cecconi, Ginevra Zanni, Marcello Niceta, Emanuele Bellacchio, Giacomo Lazzarino, Angela Maria Amorini, Enrico Silvio Bertini, Salvatore Rizza, Benedetta Contardi, Marco Tartaglia, Andrea Bartuli

    Published 2017
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    Long-term follow-up in a pediatric patient with Ligneous Conjunctivitis due to PLG gene mutation in topical plasminogen treatment after successful use of ocular prosthesis for aest... by Filippo Maria Panfili, Paola Valente, Andrea Ficari, Fabiana Cortellessa, Davide Vecchio, Michaela Veronika Gonfiantini, Paola Sabrina Buonuomo, Giovanna Stefania Colafati, Emanuele Agolini, Maria Bartuli, Alessandra Claudia Modugno, Marina Macchiaiolo

    Published 2023
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