Showing 1 - 4 results of 4 for search 'Lisa G. Riley', query time: 0.03s Refine Results
  1. 1
    Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.

    Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction. by Michael Nafisinia, Lisa G Riley, Wendy A Gold, Kaustuv Bhattacharya, Carolyn R Broderick, David R Thorburn, Cas Simons, John Christodoulou

    Published 2017-01-01
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  2. 2
    Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient.

    Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient. by David K Miller, Minal J Menezes, Cas Simons, Lisa G Riley, Sandra T Cooper, Sean M Grimmond, David R Thorburn, John Christodoulou, Ryan J Taft

    Published 2014-01-01
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  3. 3
    A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne–Kalscheuer syndrome

    A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne–Kalscheuer syndrome by Francisco Bustos, Carmen Espejo-Serrano, Anna Segarra-Fas, Rachel Toth, Alison J. Eaton, Kristin D. Kernohan, Meredith J. Wilson, Lisa G. Riley, Greg M. Findlay

    Published 2021-05-01
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  4. 4
    Human iPSC-Derived Retinal Organoids and Retinal Pigment Epithelium for Novel Intronic <i>RPGR</i> Variant Assessment for Therapy Suitability

    Human iPSC-Derived Retinal Organoids and Retinal Pigment Epithelium for Novel Intronic <i>RPGR</i> Variant Assessment for Therapy Suitability by Fidelle Chahine Karam, To Ha Loi, Alan Ma, Benjamin M. Nash, John R. Grigg, Darshan Parekh, Lisa G. Riley, Elizabeth Farnsworth, Bruce Bennetts, Anai Gonzalez-Cordero, Robyn V. Jamieson

    Published 2022-03-01
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