Publicaciones en colaboración con investigadores/as de Oslo University Hospital (2)

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

2016

  1. A Restricted Repertoire of de Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

    American Journal of Human Genetics, Vol. 98, Núm. 5, pp. 981-992