Publicaciones en colaboración con investigadores/as de Hospital Virgen de la Arrixaca (8)

2023

  1. Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations

    European journal of endocrinology, Vol. 189, Núm. 1, pp. 123-131

  2. Variations and different perceptions in vitamin D supplementation in the pediatric age in Spain

    Pediatria de Atencion Primaria, Vol. 25, Núm. 97, pp. e1-e13

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

2019

  1. Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

2018

  1. Progressive osseous heteroplasia caused by a mosaic GNAS mutation

    Clinical Endocrinology

  2. What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis

    BMC Medical Genetics, Vol. 19, Núm. 1

2007

  1. The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities

    Diabetic Medicine, Vol. 24, Núm. 7, pp. 707-713