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IDOIA
MARTÍNEZ DE LA PISCINA MARTÍN
Publicaciones (10) Publicaciones de IDOIA MARTÍNEZ DE LA PISCINA MARTÍN
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
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Incidence of diabetes mellitus and associated risk factors in the adult population of the Basque country, Spain
Scientific Reports, Vol. 11, Núm. 1
2020
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Forty-One Individuals With Mutations in the AVP-NPII Gene Associated With Familial Neurohypophyseal Diabetes Insipidus
The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 4
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Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?
Frontiers in Endocrinology, Vol. 11
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Response to Letter to the Editor: "Forty-One Individuals with Mutations in the AVP-NPII Gene Associated with Familial Neurohypophyseal Diabetes Insipidus
The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 7
2019
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Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease
Frontiers in Genetics, Vol. 10
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Hiperpituitarismo
Manual de pediatría (Ergon), pp. 754-757