Publikationen in Zusammenarbeit mit Forschern von Universitat Autònoma de Barcelona (4)

2023

  1. Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis

    Journal of Endocrinological Investigation, Vol. 46, Núm. 8, pp. 1673-1684

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

2006

  1. Functional study of a novel single deletion in the TITF1/NKX2.1 homeobox gene that produces congenital hypothyroidism and benign chorea but not pulmonary distress

    Journal of Clinical Endocrinology and Metabolism, Vol. 91, Núm. 5, pp. 1832-1841