Publicacions en col·laboració amb investigadors/es de Instituto de Investigación Sanitaria Biocruces Bizkaia (5)

2024

  1. Clinical, glycometric features and treatment in a family with monogenic diabetes due to a new mutation in the insulin gene

    Endocrinologia, Diabetes y Nutricion, Vol. 71, Núm. 2, pp. 77-82

2023

  1. Adaptation, reliability and validity of health-related quality of life questionnaires: Disabkids chronic and specific diabetes disease in children and adolescents with diabetes mellitus type 1

    Endocrinologia, Diabetes y Nutricion, Vol. 70, pp. 18-26

  2. 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. Familiar hypocalciuric hypercalcemia: Biochemical and genetic characterization of a family

    Medicina Clinica

2020

  1. Familial central diabetes insipidus

    Medicina Clinica, Vol. 155, Núm. 12, pp. 559-560