IDOIA
MARTÍNEZ DE LA PISCINA MARTÍN
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University of Bern
Berna, SuizaPublicaciones en colaboración con investigadores/as de University of Bern (5)
2024
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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
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Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development
eBioMedicine, Vol. 99
2023
2021
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Genetics of human sexual development and related disorders
Current opinion in pediatrics, Vol. 33, Núm. 6, pp. 556-563
2019
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Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease
Frontiers in Genetics, Vol. 10