Publicacions en col·laboració amb investigadors/es de Hospital Clínico San Carlos de Madrid (7)

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

2018

  1. Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis

    Journal of Inherited Metabolic Disease, Vol. 41, Núm. 6, pp. 1225-1233

  2. Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus

    Medicine (United States), Vol. 97, Núm. 29

2015

  1. Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: Identification and characterization of novel TCF12 variants

    European Journal of Human Genetics, Vol. 23, Núm. 7, pp. 907-914

2012

  1. Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus

    Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 6

2010

  1. New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism

    European Journal of Endocrinology, Vol. 163, Núm. 6, pp. 953-962