Publications en collaboration avec des chercheurs de Consiglio Nazionale delle Ricerche (3)

2014

  1. Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis

    Bone, Vol. 59, pp. 122-126

  2. Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches

    Clinical Genetics

2007

  1. Associated anomalies in multi-malformed infants with cleft lip and palate: An epidemiologic study of nearly 6 million births in 23 EUROCAT registries

    American Journal of Medical Genetics, Part A, Vol. 143, Núm. 6, pp. 528-537