Necker-Enfants Malades Hospital-ko ikertzaileekin lankidetzan egindako argitalpenak (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