Resultats de la cerca - Francesca Del Vecchio Blanco

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  1. 1
    The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene

    The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene per Annalaura Torella, Mariateresa Zanobio, Roberta Zeuli, Francesca Del Vecchio Blanco, Marco Savarese, Teresa Giugliano, Arcomaria Garofalo, Giulio Piluso, Luisa Politano, Vincenzo Nigro

    Publicat 2020
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  2. 2
    Looking beyond Entecavir to discover Gitelman Syndrome in a 50 year-old man

    Looking beyond Entecavir to discover Gitelman Syndrome in a 50 year-old man per Mariadelina Simeoni, Valeria Columbano, Yoko Suzumoto, Lívia Maria Oliveira Salviano, Giovanna Capolongo, Miriam Zacchia, Francesca Del Vecchio Blanco, Alessandro Perna, Vincenzo Nigro, Giovambattista Capasso, Francesco Trepiccione

    Publicat 2020
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  3. 3
    Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F

    Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F per Annalaura Torella, Francesco Mari, Margherita Mutarelli, Enrico Peterle, Francesca Del Vecchio Blanco, Rossella Rispoli, Marco Savarese, Arcomaria Garofalo, Giulio Piluso, Lucia Morandi, Giulia Ricci, Gabriele Siciliano, C. Angelini, Vincenzo Nigro

    Publicat 2013
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  4. 4
    Motor Chip: A Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders

    Motor Chip: A Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders per Giulio Piluso, Manuela Dionisi, Francesca Del Vecchio Blanco, Annalaura Torella, Stefania Aurino, Marco Savarese, Teresa Giugliano, Enrico Bertini, Antonio Terracciano, Mariz Vainzof, Chiara Criscuolo, Luisa Politano, Carlo Casali, Filippo M. Santorelli, Vincenzo Nigro

    Publicat 2011
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  5. 5
    Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders

    Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders per Teresa Giugliano, Claudia Santoro, Annalaura Torella, Francesca Del Vecchio Blanco, Anna Grandone, Maria Elena Onore, Mariarosa Anna Beatrice Melone, Giulia Straccia, Daniela Melis, Vincenzo Piccolo, Giuseppe Limongelli, Salvatore Buono, Silverio Perrotta, Vincenzo Nigro, Giulio Piluso

    Publicat 2019
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  6. 6
    The genetic basis of undiagnosed muscular dystrophies and myopathies

    The genetic basis of undiagnosed muscular dystrophies and myopathies per Marco Savarese, Giuseppina Di Fruscio, Annalaura Torella, Chiara Fiorillo, Francesca Magri, Francesco Mari, Lucia Ruggiero, Giulia Ricci, Guja Astrea, Luigia Passamano, Alessandra Ruggieri, Dario Ronchi, Giorgio Tasca, Adele D’Amico, Sandra Janssens, Olimpia Farina, Margherita Mutarelli, Veer Singh Marwah, Arcomaria Garofalo, Teresa Giugliano, Simone Sanpaolo, Francesca Del Vecchio Blanco, Gaia Esposito, Giulio Piluso, Paola D’Ambrosio, Roberta Petillo, Olimpia Musumeci, Carmelo Rodolico, Sonia Messina, Anni Evilä, Peter Hackman, Massimiliano Filosto, Giuseppe Di Iorio, Gabriele Siciliano, Marina Mora, Lorenzo Maggi, Carlo Minetti, Sabrina Sacconi, Lucio Santoro, Kathleen Claes, Liliana Vercelli, Tiziana Mongini, Enzo Ricci, Francesca Gualandi, Rossella Tupler, Jan De Bleecker, Bjarne Udd, António Toscano, Maurizio Moggio, Elena Pegoraro, Enrico Bertini, Eugenio Mercuri, C. Angelini, Filippo M. Santorelli, Luisa Politano, Claudio Bruno, Giacomo P. Comi, Vincenzo Nigro

    Publicat 2016
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