Publications in collaboration with researchers from Complexo Hospitalario Universitario de Santiago (2)

2020

  1. Identification of a novel variant in EARS2 associated with a severe clinical phenotype expands the clinical spectrum of LTBL

    Genes, Vol. 11, Núm. 9, pp. 1-10

2019

  1. Identification and characterization of new variants in FOXRED1 gene expands the clinical spectrum associated with mitochondrial complex I deficiency

    Journal of Clinical Medicine, Vol. 8, Núm. 8