Search Results - Ferruccio Romano

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  1. 1

    Novel De Novo RALA Missense Variants Expand the Genotype Spectrum of Hiatt‐Neu‐Cooper Neurodevelopmental Syndrome by Alice Dainelli, Mohammad Sadegh Shams Nosrati, Ferruccio Romano, Fabiana Vercellino, Maria Margherita Mancardi, Annalaura Torella, Vincenzo Nigro, Valeria Capra, Federico Zara, Marcello Scala

    Published in Molecular Genetics & Genomic Medicine (2025-02-01)
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  2. 2

    Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia by Ferruccio Romano, Elisabetta Amadori, Elisabetta Amadori, Francesca Madia, Mariasavina Severino, Valeria Capra, Renata Rizzo, Rita Barone, Beatrice Corradi, Beatrice Corradi, Luca Maragliano, Luca Maragliano, Mohammad Sadegh Shams Nosrati, Antonio Falace, Pasquale Striano, Pasquale Striano, Federico Zara, Federico Zara, Marcello Scala, Marcello Scala

    Published in Frontiers in Pediatrics (2023-12-01)
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  3. 3

    Vein of Galen aneurysmal malformation in newborns: a retrospective study to describe a paradigm of treatment and identify risk factors of adverse outcome in a referral center by Silvia Buratti, Silvia Buratti, Marisa Mallamaci, Giulia Tuo, Mariasavina Severino, Mariasavina Severino, Domenico Tortora, Costanza Parodi, Andrea Rossi, Andrea Rossi, Francesco Pasetti, Lucio Castellan, Valeria Capra, Ferruccio Romano, Patrizia De Marco, Marco Pavanello, Gianluca Piatelli, Dario Paladini, Maria Grazia Calevo, Andrea Moscatelli, Andrea Moscatelli

    Published in Frontiers in Pediatrics (2023-07-01)
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  4. 4

    Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT) by Michela Bellardita, Ferruccio Romano, Ludovica Menta, Joana Soraia Martinheira Da Silva, Marzia Ognibene, Simona Baldassari, Marco Di Duca, Chiara Panicucci, Serena Baratto, Noemi Brolatti, Marina Pedemonte, Chiara Fiorillo, Claudio Bruno, Marcello Scala, Federico Zara, Francesca Faravelli, Francesca Madia, Serena Cappato, Renata Bocciardi, Valeria Capra

    Published in Molecular Genetics & Genomic Medicine (2025-08-01)
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  5. 5

    Arteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center by Ferruccio Romano, Patrizia De Marco, Giulia Amico, Marisa Mallamaci, Marco Pavanello, Gianluca Piatelli, Marcello Scala, Federico Zara, Federico Zara, Federico Zara, Federico Zara, Federico Zara, Francesca Faravelli, Mariasavina Severino, Mariasavina Severino, Domenico Tortora, Domenico Tortora, Francesco Pasetti, Lucio Castellan, Silvia Buratti, Silvia Buratti, Silvia Buratti, Valeria Capra

    Published in Frontiers in Genetics (2025-03-01)
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