Publicaciones en las que colabora con Jordi Surrallés Calonge (4)

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

2011

  1. Chromosome fragility in patients with Fanconi anaemia: Diagnostic implications and clinical impact

    Journal of Medical Genetics, Vol. 48, Núm. 4, pp. 242-250

  2. Origin, functional role, and clinical impact of fanconi anemia fanca mutations

    Blood, Vol. 117, Núm. 14, pp. 3759-3769

2007

  1. A comprehensive strategy for the subtyping of patients with Fanconi anaemia: Conclusions from the Spanish Fanconi Anemia Research Network

    Journal of Medical Genetics, Vol. 44, Núm. 4, pp. 241-249