Centro de Investigación Biomédica en Red sobre Enfermedades Raras -ko ikertzaileekin lankidetzan egindako argitalpenak (8)

2024

  1. Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the thyroglobulin gene

    Frontiers in Endocrinology, Vol. 15

  2. Genetic and Functional Studies of Patients with Thyroid Dyshormonogenesis and Defects in the TSH Receptor (TSHR)

    International Journal of Molecular Sciences, Vol. 25, Núm. 18

  3. Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype–Phenotype Correlation

    International Journal of Molecular Sciences, Vol. 25, Núm. 15

2023

  1. Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8

    The Journal of clinical endocrinology and metabolism, Vol. 108, Núm. 11, pp. e1316-e1328

2022

  1. A New MAMLD1 Variant in an Infant With Microphallus and Hypospadias With Hormonal Pattern Suggesting Partial Hypogonadotropic Hypogonadism—Case Report

    Frontiers in Endocrinology, Vol. 13

  2. Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report

    Frontiers in Endocrinology, Vol. 13

2021

  1. Growth hormone treatment and papilledema: A prospective pilot study

    JCRPE Journal of Clinical Research in Pediatric Endocrinology, Vol. 13, Núm. 2, pp. 146-151

  2. Myocardial Geometry and Dysfunction in Morbidly Obese Adolescents (BMI 35–40 kg/m2)

    American Journal of Cardiology, Vol. 157, pp. 128-134