檢索結果 - Maria Iascone

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

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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 由 Grazia Bossi, Giuseppe Giordano, Gaetana Anna Rispoli, Giuseppe Maggiore, Mauro Naturale, Daniela Marchetti, Maria Iascone

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

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

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Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literature 由 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

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Abnormal B-Cell Maturation and Increased Transitional B Cells in CBL Syndrome 由 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

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