Publicaciones en colaboración con investigadoras/es de Hospital Ramón y Cajal (7)

2020

  1. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants

    The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 8

2012

  1. Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus

    Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 6

2010

  1. New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism

    European Journal of Endocrinology, Vol. 163, Núm. 6, pp. 953-962

2009

  1. Severe neonatal insulin-resistance caused by compound heterozygous mutations in the insulin receptor gene

    HORMONE RESEARCH

2008

  1. New mutation type in pseudohypoparathyroidism type Ia

    Clinical Endocrinology, Vol. 69, Núm. 5, pp. 705-712

2007

  1. Panhypopituitarism: Genetic versus acquired etiological factors

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

  2. The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities

    Diabetic Medicine, Vol. 24, Núm. 7, pp. 707-713