University of Bern-ko ikertzaileekin lankidetzan egindako argitalpenak (5)

2024

  1. A Novel Mutation in the INSR Gene Causes Severe Insulin Resistance and Rabson–Mendenhall Syndrome in a Paraguayan Patient

    International Journal of Molecular Sciences, Vol. 25, Núm. 6

  2. Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development

    eBioMedicine, Vol. 99

2023

  1. Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations

    PloS one, Vol. 18, Núm. 7, pp. e0287515

2021

  1. Genetics of human sexual development and related disorders

    Current opinion in pediatrics, Vol. 33, Núm. 6, pp. 556-563

2019

  1. Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease

    Frontiers in Genetics, Vol. 10