Showing 1 - 2 results of 2 for search 'Gabe Haller', query time: 0.02s Refine Results
  1. 1
    Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E

    Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E by Chengcheng Li, Jackson Wilborn, Sara Pittman, Jil Daw, Jorge Alonso-Pérez, Jordi Díaz-Manera, Conrad C. Weihl, Gabe Haller

    Published 2023-06-01
    Get full text
    Article
  2. 2
    Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome

    Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome by Naeimeh Tayebi, Brian Leon‐Ricardo, Kevin McCall, Elvisa Mehinovic, Kristin Engelstad, Vincent Huynh, Tychele N. Turner, Judy Weisenberg, Liu L. Thio, Paul Hruz, Robin S. B. Williams, Darryl C. De Vivo, Vincent Petit, Gabe Haller, Christina A. Gurnett

    Published 2023-05-01
    Get full text
    Article

Search Tools: