Publications en collaboration avec des chercheurs de Hospital Universitario La Paz (4)

2021

  1. Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome

    Frontiers in Genetics, Vol. 12

2014

  1. A new overgrowth syndrome is due to mutations in RNF125

    Human Mutation, Vol. 35, Núm. 12, pp. 1436-1441

2011

  1. Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype

    American Journal of Human Genetics, Vol. 89, Núm. 2, pp. 295-301

2009

  1. Widening the mutation spectrum of EVC and EVC2: Ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signaling

    Human Mutation, Vol. 30, Núm. 12, pp. 1667-1675