Publicaciones en colaboración con investigadores/as de Hospital Universitario Marqués de Valdecilla (2)

2020

  1. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies

    Journal of Medical Genetics, Vol. 57, Núm. 4, pp. 258-268

2017

  1. Phenotype of mutations in the promoter region of the β-globin gene

    Journal of Clinical Pathology, Vol. 70, Núm. 10, pp. 874-878