Publicacións nas que colabora con DAVID ARAUJO VILAR (6)

2019

  1. Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation

    Case Reports in Endocrinology, Vol. 2019

2010

  1. Functional consequences of seven novel mutations in the CYP11B1 gene: Four mutations associated with nonclassic and three mutations causing classic 11β-hydroxylase deficiency

    Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 2, pp. 779-788

2009

  1. Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy

    Journal of Medical Genetics, Vol. 46, Núm. 1, pp. 40-48

2008

  1. Pendred syndrome in two Galician families: Insights into clinical phenotypes through cellular, genetic, and molecular studies

    Journal of Clinical Endocrinology and Metabolism, Vol. 93, Núm. 1, pp. 267-277

2006

  1. High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect

    Clinical Endocrinology, Vol. 64, Núm. 3, pp. 330-336

2003

  1. Phenotypic gender differences in subjects with familial partial lipodystrophy (dunnigan variety) due to a nuclear lamin A/C R482W mutation

    Hormone and Metabolic Research, Vol. 35, Núm. 1, pp. 29-35