Search Results - Sabina Barresi

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  1. 1
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    Phenotypic Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases by May El Hachem, Sabina Barresi, Andrea Diociaiuti, Renata Boldrini, Angelo Giuseppe Condorelli, Ettore Capoluongo, Vittoria Proto, Giulietta Scuvera, Cristina Has, Marco Tartaglia, Daniele Castiglia

    Published 2018
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  2. 2
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    Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review by Marcello Niceta, Maria Lisa Dentici, Andrea Ciolfi, Romana Marini, Sabina Barresi, Francesca Romana Lepri, Antonio Novelli, Enrico Bertini, Marco Cappa, Maria Cristina Digilio, Bruno Dallapiccola, Marco Tartaglia

    Published 2020
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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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