Publicacións en colaboración con investigadores/as de Necker-Enfants Malades Hospital (4)

2013

  1. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

    European Journal of Human Genetics, Vol. 21, Núm. 10, pp. 1074-1078

2010

  1. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

    Human Mutation, Vol. 31, Núm. 5

2009

  1. Expanding CEP290 mutational spectrumin ciliopathies

    American Journal of Medical Genetics, Part A, Vol. 149, Núm. 10, pp. 2173-2180

2007

  1. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

    American Journal of Human Genetics, Vol. 81, Núm. 1, pp. 104-113