Publications in collaboration with researchers from French Institute of Health and Medical Research (3)

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

2018

  1. Further refinement of COL4A1 and COL4A2 related cortical malformations

    European Journal of Medical Genetics, Vol. 61, Núm. 12, pp. 765-772