Showing 1 - 2 results of 2 for search 'Barbara Garavaglia', query time: 0.01s Refine Results
  1. 1
    Generation of an induced pluripotent stem cell line (UCLi026-A) from a patient with ADCY5-related disease carrying the heterozygous variant c.1253G > A; (p. Arg418Gln)

    Generation of an induced pluripotent stem cell line (UCLi026-A) from a patient with ADCY5-related disease carrying the heterozygous variant c.1253G > A; (p. Arg418Gln) by Sharmin Alhaque, Dimitri Budinger, Barbara Garavaglia, Giovanna Zorzi, Serena Barral, Manju A. Kurian

    Published 2025-04-01
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  2. 2
    CLN6‐related continuum phenotype caused by aberrant splicing

    CLN6‐related continuum phenotype caused by aberrant splicing by Federica Invernizzi, Barbara Castellotti, Chiara Reale, Celeste Panteghini, Isabel Colangelo, Roberta Solazzi, Francesca Ragona, Lucio Giordano, Jessica Galli, Davide Rossi Sebastiano, Gianluca Marucci, Valeria Cuccarini, Giuseppe Didato, Cinzia Gellera, Barbara Garavaglia, Tiziana Granata, Laura Canafoglia

    Published 2025-02-01
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