Publications in collaboration with researchers from Hospital Universitario Puerta del Mar (2)

2025

  1. Prognostic significance of mutation type and chromosome fragility in Fanconi anemia

    American Journal of Hematology, Vol. 100, Núm. 2, pp. 272-284

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