Samuel Ignacio Pascual Pascual-rekin lankidetzan egindako argitalpenak (2)

2023

  1. Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

    Journal of medical genetics, Vol. 60, Núm. 10, pp. 965-973

2019

  1. Autosomal dominant distal myopathy with nemaline rods due to p.Glu197Asp mutation in ACTA1

    Neuromuscular Disorders, Vol. 29, Núm. 3, pp. 247-250