Publicaciones en colaboración con investigadores/as de Hospital Miguel Servet (4)

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

2008

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

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

2002

  1. Heterozygous familial hypercholesterolemia in Spain. Description of 819 non related cases

    Medicina Clinica, Vol. 118, Núm. 13, pp. 487-492