Search Results - Seok-Ho Yu

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  1. 1

    A Biochemical Platform to Define the Relative Specific Activity of <i>IDUA</i> Variants Identified by Newborn Screening by Seok-Ho Yu, Laura Pollard, Tim Wood, Heather Flanagan-Steet, Richard Steet

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  2. 2

    Functional analysis of a novel mutation in the TIMM8A gene that causes deafness‐dystonia‐optic neuronopathy syndrome by Addison Neighbors, Tonya Moss, Lynda Holloway, Seok‐Ho Yu, Fran Annese, Steve Skinner, Russell Saneto, Richard Steet

    Published in Molecular Genetics & Genomic Medicine (2020-03-01)
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  3. 3

    Functional assessment of IDUA variants of uncertain significance identified by newborn screening by Seok-Ho Yu, Francyne Kubaski, Gavin Arno, Whitney Phinney, Tim C. Wood, Heather Flanagan-Steet, Laura M. Pollard, Richard Steet

    Published in npj Genomic Medicine (2024-12-01)
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  4. 4

    Phenylbutyrate modulates polyamine acetylase and ameliorates Snyder-Robinson syndrome in a Drosophila model and patient cells by Xianzun Tao, Yi Zhu, Zoraida Diaz-Perez, Seok-Ho Yu, Jackson R. Foley, Tracy Murray Stewart, Robert A. Casero Jr., Richard Steet, R. Grace Zhai

    Published in JCI Insight (2022-07-01)
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