Publicacións en colaboración con investigadores/as de University of Genoa (7)

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. Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study

    Orphanet journal of rare diseases, Vol. 18, Núm. 1, pp. 56

  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