Publications in collaboration with researchers from Children's Hospital of Eastern Ontario (2)

2021

  1. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

    Journal of Clinical Endocrinology and Metabolism, Vol. 106, Núm. 2, pp. E660-E674

2020

  1. Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy

    Neurology: Genetics, Vol. 6, Núm. 3