Showing 1 - 7 results of 7 for search 'Edoardo Errichiello', query time: 0.03s Refine Results
  1. 1
    Case Report: Decrypting an interchromosomal insertion associated with Marfan’s syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants

    Case Report: Decrypting an interchromosomal insertion associated with Marfan’s syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants by Maria Clara Bonaglia, Eliana Salvo, Manuela Sironi, Sara Bertuzzo, Edoardo Errichiello, Edoardo Errichiello, Teresa Mattina, Teresa Mattina, Orsetta Zuffardi

    Published 2023-09-01
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  2. 2
    RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism

    RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism by Edoardo Errichiello, Roberto Giorda, Antonella Gambale, Achille Iolascon, Orsetta Zuffardi, Sabrina Giglio

    Published 2021-01-01
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  3. 3
    A Data Fusion Approach to Enhance Association Study in Epilepsy.

    A Data Fusion Approach to Enhance Association Study in Epilepsy. by Simone Marini, Ivan Limongelli, Ettore Rizzo, Alberto Malovini, Edoardo Errichiello, Annalisa Vetro, Tan Da, Orsetta Zuffardi, Riccardo Bellazzi

    Published 2016-01-01
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  4. 4
    A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients

    A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients by Monica Cattaneo, Lucia La Sala, Maurizio Rondinelli, Edoardo Errichiello, Orsetta Zuffardi, Annibale Alessandro Puca, Stefano Genovese, Antonio Ceriello

    Published 2017-12-01
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  5. 5
    Myogenic potential of whole bone marrow mesenchymal stem cells in vitro and in vivo for usage in urinary incontinence.

    Myogenic potential of whole bone marrow mesenchymal stem cells in vitro and in vivo for usage in urinary incontinence. by Monica Gunetti, Simone Tomasi, Alessandro Giammò, Marina Boido, Deborah Rustichelli, Katia Mareschi, Edoardo Errichiello, Maurizio Parola, Ivana Ferrero, Franca Fagioli, Alessandro Vercelli, Roberto Carone

    Published 2012-01-01
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  6. 6
    Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements

    Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements by Adriana Prato, Lara Cirnigliaro, Federica Maugeri, Antonina Luca, Loretta Giuliano, Giuseppina Vitiello, Edoardo Errichiello, Enza Maria Valente, Ennio Del Giudice, Giovanni Mostile, Renata Rizzo, Rita Barone

    Published 2024-02-01
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  7. 7
    Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD)

    Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD) by Paola De Filippi, Edoardo Errichiello, Antonio Toscano, Tiziana Mongini, Maurizio Moggio, Sabrina Ravaglia, Massimiliano Filosto, Serenella Servidei, Olimpia Musumeci, Fabio Giannini, Alberto Piperno, Gabriele Siciliano, Giulia Ricci, Antonio Di Muzio, Miriam Rigoldi, Paola Tonin, Michele Giovanni Croce, Elena Pegoraro, Luisa Politano, Lorenzo Maggi, Roberta Telese, Alberto Lerario, Cristina Sancricca, Liliana Vercelli, Claudio Semplicini, Barbara Pasanisi, Bruno Bembi, Andrea Dardis, Ilaria Palmieri, Cristina Cereda, Enza Maria Valente, Cesare Danesino

    Published 2023-04-01
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