Hasil Pencarian - Silvia Cattarossi

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  1. 1
    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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  2. 2
    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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  3. 3
    Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.

    Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants. oleh Stefania Zampieri, Silvia Cattarossi, Ana Maria Oller Ramirez, Camillo Rosano, Charles Marques Lourenco, Nadia Passon, Isabella Moroni, Graziella Uziel, Antonella Pettinari, Franco Stanzial, Raquel Dodelson de Kremer, Nydia Beatriz Azar, Filiz Hazan, Mirella Filocamo, Bruno Bembi, Andrea Dardis

    Diterbitkan 2012-01-01
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