Hasil Pencarian - Shelly Goomber

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  1. 1
    Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening

    Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening oleh Shelly Goomber, Erin Huggins, Catherine W. Rehder, Jennifer L. Cohen, Deeksha S. Bali, Deeksha S. Bali, Priya S. Kishnani

    Diterbitkan 2022-09-01
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  2. 2
    P695: Uncertainty in interpretation of GAA variants detected through newborn screening without clinical manifestation of Pompe disease

    P695: Uncertainty in interpretation of GAA variants detected through newborn screening without clinical manifestation of Pompe disease oleh Dona Kanavy, Jenny Goldstein, Filippo Pinto e Vairo, Deeksha Bali, Xiangwen Chen-Deutsch, Taraka Donti, Shelly Goomber, Jennifer McGlaughon, Yinghong Pan, Bryce Seifert, Raquel Fernandez, Emily Kyle, Meredith Weaver, Lorne Clarke, Catherine Rehder

    Diterbitkan 2024-01-01
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