Publicacións en colaboración con investigadores/as de Hospital Universitario de Basurto (9)

2022

  1. Familial endometrial adenocarcinoma: MSH6 variant of unknown significance in the presence of phenocopy, what should be done?

    Revista Espanola de Patologia, Vol. 55, pp. S16-S20

  2. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

    Genetics in Medicine, Vol. 24, Núm. 11, pp. 2351-2366

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

2013

  1. Brachydactyly E: Isolated or as a feature of a syndrome

    Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1

2010

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

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

  2. Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 107, Núm. 7, pp. 3105-3110

2007

  1. Panhypopituitarism: Genetic versus acquired etiological factors

    Journal of Pediatric Endocrinology and Metabolism, Vol. 20, Núm. 1, pp. 27-36

  2. 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