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  1. 1
    Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiency

    Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiency by Natasha Rudy, Kazuhiro Aoki, Amitha Ananth, Lynda Holloway, Cindy Skinner, Anna Hurst, Michael Tiemeyer, Richard Steet

    Published 2023-03-01
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  2. 2
    Functional analysis of a novel mutation in the TIMM8A gene that causes deafness‐dystonia‐optic neuronopathy syndrome

    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 2020-03-01
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