Publicaciones en colaboración con investigadores/as de Oslo University Hospital (15)

2021

  1. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

    Journal of Clinical Endocrinology and Metabolism, Vol. 106, Núm. 2, pp. E660-E674

2007

  1. Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor

    New England Journal of Medicine, Vol. 356, Núm. 3, pp. 237-247