Publicacións en colaboración con investigadores/as de Erasmus University Medical Center (2)

2011

  1. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

    Orphanet Journal of Rare Diseases, Vol. 6, Núm. 1

2010

  1. Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia

    Human Mutation, Vol. 31, Núm. 8