Publications en collaboration avec des chercheurs de Instituto de Salud Carlos III (7)

2022

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

    Frontiers in Genetics, Vol. 13

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

  2. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

2020

  1. Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

    European Journal of Human Genetics, Vol. 28, Núm. 4, pp. 469-479

2019

  1. Suitability and limitations of mesenchymal stem cells to elucidate human bone illness

    World Journal of Stem Cells, Vol. 11, Núm. 9, pp. 578-593

2018

  1. Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features

    American Journal of Human Genetics, Vol. 103, Núm. 5, pp. 786-793

  2. Parental mosaicism in PAX6 causes intra-familial variability: Implications for genetic counseling of congenital aniridia and microphthalmia

    Frontiers in Genetics, Vol. 9, Núm. OCT