Publications by the researcher in collaboration with LEIRE MADARIAGA DOMÍNGUEZ (8)

2024

  1. Genetic profile of a large Spanish cohort with hypercalcemia

    Frontiers in Endocrinology, Vol. 15

2021

  1. Five patients with disorders of calcium metabolism presented with GCM2 gene variants

    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. Novel variant in the CNNM2 gene associated with dominant hypomagnesemia

    PLoS ONE, Vol. 15, Núm. 9 September

  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. Novel mutations associated with inherited human calcium-sensing receptor disorders: A clinical genetic study

    European journal of endocrinology, Vol. 180, Núm. 1, pp. 59-70

  2. Variable phenotype in HNF1B mutations: Extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract

    Clinical Kidney Journal, Vol. 12, Núm. 3, pp. 373-379

2018

  1. Identification of a novel large casr deletion in a patient with familial hypocalciuric hypercalcemia

    Endocrinology, Diabetes and Metabolism Case Reports, Vol. 2018, Núm. 1, pp. 1-5