Search Results - Maria Iascone

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  1. 1
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    ALDH18A1‐related hereditary spastic paraplegia and developmental and epileptic encephalopathy with spike‐wave activation in sleep: Expanding the clinical phenotype by Giusi Ferrara, Gianni Cutillo, Irene Peterlongo, Eleonora Minacapilli, Maria Iascone, Pierangelo Veggiotti, Isabella Fiocchi

    Published 2024
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  2. 2
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    Atypical clinical presentation and successful treatment with oral cholic acid of a child with defective bile acid synthesis due to a novel mutation in the HSD3B7 gene by Grazia Bossi, Giuseppe Giordano, Gaetana Anna Rispoli, Giuseppe Maggiore, Mauro Naturale, Daniela Marchetti, Maria Iascone

    Published 2017
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  3. 3
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    Multidisciplinary follow-up in a patient with Morgagni hernia leads to diagnosis of Marfan syndrome by Ester Capecchi, Roberta Villa, Alessandro Pini, Maria Iascone, Laura Messina, Paola Francesca Ajmone, Fabio Mosca, Silvana Gangi, Maria Francesca Bedeschi

    Published 2024
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    Compound heterozygous TRMU gene mutations in an infant with transient cholestasis and hyperlactatemia by Barbara Parma, Serena Motta, Erika S. Apuril Velgara, Angelo Selicorni, Lisa Licini, Maurizio Cheli, Lorenzo D'Antiga, Maria Iascone, Emanuele Nicastro, Serena Gasperini

    Published 2024
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    Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literature by Irene Picciolli, Angelo Ratti, Berardo Rinaldi, Anwar Baban, Maria Iascone, Gaia Francescato, Alessia Cappelleri, Monia Magliozzi, Antonio Novelli, Giovanni Parlapiano, Anna Maria Colli, Nicola Persico, Stefano Carugo, Fabio Mosca, Maria Francesca Bedeschi

    Published 2024
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    Abnormal B-Cell Maturation and Increased Transitional B Cells in CBL Syndrome by Francesco Saettini, Tiziana Angela Coliva, Francesca Vendemini, Marta Galbiati, Cristina Bugarin, Riccardo Masetti, Daniele Moratto, Marco Chiarini, Fabiola Guerra, Fabiola Guerra, Maria Iascone, Raffaele Badolato, Giovanni Cazzaniga, Charlotte Niemeyer, Christian Flotho, Andrea Biondi

    Published 2022
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