Search Results - Ruth Sheffer

  • Showing 1 - 3 results of 3
Refine Results
  1. 1

    Bezafibrate Improves Mitochondrial Fission and Function in DNM1L-Deficient Patient Cells by Liza Douiev, Ruth Sheffer, Gabriella Horvath, Ann Saada

    Published in Cells (2020-01-01)
    Get full text
    Article


  2. 2

    De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy by Maja Tarailo‐Graovac, Farah R. Zahir, Irena Zivkovic, Michelle Moksa, Kathryn Selby, Sunita Sinha, Corey Nislow, Sylvia G. Stockler‐Ipsiroglu, Ruth Sheffer, Ann Saada‐Reisch, Jan M. Friedman, Clara D. M. vanKarnebeek, Gabriella A. Horvath

    Published in Molecular Genetics & Genomic Medicine (2019-10-01)
    Get full text
    Article


  3. 3

    P254: Genetics of Perrault syndrome in a family with ten affected individuals by Rabia Faridi, Thomas Smith, Leigh M. Demain, Yasuko Ishibashi, Sayaka Inagaki, Huw Thomas, Alessandro Rea, Arshia Maqbool, Isabelle Schrauwen, Khurram Liaqat, Zubair Ahmed, Sondhya Ghedia, Andrew Green, Ruth Sheffer, Hagar Mor-Shaked, Mathilda Wilding, Robin Hay, Saima Riazuddin, Langping He, Glenda Beaman, Wasim Ahmed, Suzanne Leal, Robert Taylor, Raymond O’Keefe, Robert Morell, Alejandro Schaffer, William Newman, Inna Belyantseva, Sheikh Riazuddin, Thomas Friedman

    Published in Genetics in Medicine Open (2025-01-01)
    Get full text
    Article


Search Tools: