Publications in collaboration with researchers from Hospitais da Universidade de Coimbra (10)

2024

  1. European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia

    Advances in Therapy

2023

  1. European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis

    Orphanet journal of rare diseases, Vol. 18, Núm. 1, pp. 219

2022

  1. Optimising care and follow-up of adults with achondroplasia

    Orphanet Journal of Rare Diseases, Vol. 17, Núm. 1

  2. Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations

    Orphanet Journal of Rare Diseases, Vol. 17, Núm. 1

2021

  1. Impact of Bacillus Calmette-Gue´rin (BCG) vaccination on postoperative mortality in patients with perioperative SARS-CoV-2 infection

    BJS Open

  2. Machine learning risk prediction of mortality for patients undergoing surgery with perioperative SARS-CoV-2: The COVIDSurg mortality score

    British Journal of Surgery, Vol. 19, Núm. 4

  3. The first European consensus on principles of management for achondroplasia

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

2013

  1. GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients

    Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1

2012

  1. Reduced elastogenesis: A clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

    Orphanet Journal of Rare Diseases, Vol. 7, Núm. 1

2007

  1. Schimke immunoosseous dysplasia: Suggestions of genetic diversity

    Human Mutation, Vol. 28, Núm. 3, pp. 273-283