Argitalpenak (10) IDOIA MARTÍNEZ DE LA PISCINA MARTÍN argitalpenak

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

  2. Incidence of diabetes mellitus and associated risk factors in the adult population of the Basque country, Spain

    Scientific Reports, Vol. 11, Núm. 1

2020

  1. 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

  2. Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?

    Frontiers in Endocrinology, Vol. 11

  3. 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

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

    Frontiers in Genetics, Vol. 10

  2. Hiperpituitarismo

    Manual de pediatría (Ergon), pp. 754-757