Hasil Pencarian - Eleonora Pavan

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  1. 1
    CRISPR/Cas9 Editing for Gaucher Disease Modelling

    CRISPR/Cas9 Editing for Gaucher Disease Modelling oleh Eleonora Pavan, Maximiliano Ormazabal, Paolo Peruzzo, Emilio Vaena, Paula Rozenfeld, Andrea Dardis

    Diterbitkan 2020-05-01
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  2. 2
    Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test

    Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test oleh Stefania Zampieri, Silvia Cattarossi, Eleonora Pavan, Antonio Barbato, Agata Fiumara, Paolo Peruzzo, Maurizio Scarpa, Giovanni Ciana, Andrea Dardis

    Diterbitkan 2021-05-01
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  3. 3
    Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions

    Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions oleh Eleonora Pavan, Paolo Peruzzo, Silvia Cattarossi, Natascha Bergamin, Andrea Bordugo, Annalisa Sechi, Maurizio Scarpa, Jessica Biasizzo, Fabiana Colucci, Andrea Dardis

    Diterbitkan 2024-06-01
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  4. 4
    In vitro and in vivo effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy

    In vitro and in vivo effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy oleh Giovanni Ciana, Andrea Dardis, Eleonora Pavan, Rosalia Maria Da Riol, Jessica Biasizzo, Dania Ferino, Manuela Zanatta, Antonella Boni, Luisa Antonini, Giovanni Crichiutti, Bruno Bembi

    Diterbitkan 2020-12-01
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  5. 5
    Exploring the Pathophysiologic Cascade Leading to Osteoclastogenic Activation in Gaucher Disease Monocytes Generated via CRISPR/Cas9 Technology

    Exploring the Pathophysiologic Cascade Leading to Osteoclastogenic Activation in Gaucher Disease Monocytes Generated via CRISPR/Cas9 Technology oleh Maximiliano Emanuel Ormazabal, Eleonora Pavan, Emilio Vaena, Dania Ferino, Jessica Biasizzo, Juan Marcos Mucci, Fabrizio Serra, Adriana Cifù, Maurizio Scarpa, Paula Adriana Rozenfeld, Andrea Elena Dardis

    Diterbitkan 2023-07-01
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