Publications in collaboration with researchers from Centro de Investigación Biomédica en Red sobre Enfermedades Raras (22)

2022

  1. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

2020

  1. Sfrp1 deficiency makes retinal photoreceptors prone to degeneration

    Scientific reports, Vol. 10, Núm. 1, pp. 5115

2015

  1. Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDG

    Clinical Genetics, Vol. 87, Núm. 1, pp. 42-48

  2. Complexity of the hereditary motor and sensory neuropathies

    Journal of Child Neurology, Vol. 30, Núm. 11, pp. 1544-1548