Publications in collaboration with researchers from Hamad Medical Corporation (8)

2025

  1. Recommendations for management of infants and young children with achondroplasia: Does clinical practice align?

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

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

  2. Outcomes of elective liver surgery worldwide: a global, prospective, multicenter, cross-sectional study

    International Journal of Surgery, Vol. 109, Núm. 12, pp. 3954-3966

  3. Real-world evidence in achondroplasia: considerations for a standardized data set

    Orphanet Journal of Rare Diseases, Vol. 18, Núm. 1

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. The first European consensus on principles of management for achondroplasia

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