Publicacións en colaboración con investigadores/as de Hospital General Universitario de Elche (6)

2025

  1. Childhood to adult transition in youth patients with lysosomal acid lipase deficiency: 43 recommendations from experts

    Orphanet Journal of Rare Diseases , Vol. 20, Núm. 1

2024

  1. A prospective European trial comparing laparotomy, laparoscopy, robotic-assisted, and transanal total mesorectal excision procedures in high-risk patients with rectal cancer: the RESET trial

    Annals of Surgery

  2. Evaluation of Genetic Variants Associated with the Risk of Thiopurine-Related Pancreatitis: A Case Control Study from ENEIDA Registry

    Digestive Diseases, Vol. 42, Núm. 3, pp. 257-264

2023

  1. The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants

    Orphanet journal of rare diseases, Vol. 18, Núm. 1, pp. 8

2021

  1. The first wave of the COVID-19 epidemic in Spain was associated with early introductions and fast spread of a dominating genetic variant

    Nature Genetics, Vol. 53, Núm. 10, pp. 1405-1414

2013

  1. Risk of cancer in cases of suspected lynch syndrome without germline mutation

    Gastroenterology, Vol. 144, Núm. 5