Publicaciones en colaboración con investigadoras/es de Universitat de Barcelona (34)

2024

  1. Dilated Cardiomyopathy With Concomitant Salt-Losing Renal Tubulopathy Caused by Heterozygous RRAGD Gene Variant

    Circulation: Genomic and Precision Medicine, Vol. 17, Núm. 2, pp. E004336

  2. The Human Phenotype Ontology in 2024: phenotypes around the world

    Nucleic acids research, Vol. 52, Núm. D1, pp. D1333-D1346

2015

  1. Bacteremia in previously healthy children in Emergency Departments: clinical and microbiological characteristics and outcome

    European Journal of Clinical Microbiology and Infectious Diseases, Vol. 34, Núm. 3, pp. 453-460

  2. Patterns of somatic uniparental disomy identify novel tumor suppressor genes in colorectal cancer

    Carcinogenesis, Vol. 36, Núm. 10, pp. 1103-1110