Publications en collaboration avec des chercheurs de Instituto de Investigación Sanitaria del Hospital Universitario La Paz (4)

2024

  1. Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder

    Clinical Genetics, Vol. 105, Núm. 2, pp. 140-149

  2. Identification of copy-number variants in patients with overgrowth disorders

    Clinical Genetics, Vol. 106, Núm. 5, pp. 614-624

2022

  1. FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects

    Genetics in Medicine, Vol. 24, Núm. 12, pp. 2475-2486

  2. Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

    Frontiers in Genetics, Vol. 13