Publicaciones en las que colabora con Pedro Martul Tobío (9)

2008

  1. Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients

    Clinical Endocrinology, Vol. 68, Núm. 6, pp. 873-878

2007

  1. Mutations in GCK and HNF-1α explain the majority of cases with clinical diagnosis of MODY in Spain

    Clinical Endocrinology, Vol. 67, Núm. 4, pp. 538-546

  2. Panhypopituitarism: Genetic versus acquired etiological factors

    Journal of Pediatric Endocrinology and Metabolism, Vol. 20, Núm. 1, pp. 27-36

  3. Virilización en una niña por contacto inadvertido con testosterona tópica

    Endocrinología y nutrición: órgano de la Sociedad Española de Endocrinología y Nutrición, Vol. 54, Núm. 2, pp. 122-124

2002

  1. Molecular analysis of Frasier syndrome: Mutation in the WT1 gene in a girl with gonadal dysgenesis and nephronophthisis

    Journal of Pediatric Endocrinology and Metabolism, Vol. 15, Núm. 7, pp. 1047-1050

2001

  1. Molecular analysis of hereditary hyperferritinemia-cataract syndrome in a large Basque family

    Journal of Pediatric Endocrinology and Metabolism, Vol. 14, Núm. 3, pp. 295-300