Publicaciones en colaboración con investigadores/as de Hospital Miguel Servet (2)

2023

  1. Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients

    Journal of Medical Genetics, Vol. 60, Núm. 7, pp. 644-654

2018

  1. Autosomal recessive hypercholesterolemia in Spain

    Atherosclerosis, Vol. 269, pp. 1-5