Publicaciones en las que colabora con IGNACIO DÍEZ LÓPEZ (5)

2016

  1. Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review

    American Journal of Medical Genetics, Part A, Vol. 170, Núm. 3, pp. 734-742

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. Genotype-phenotype correlations in children with congenital hyperinsulinism

    HORMONE RESEARCH

  2. Monogenic diabetes due to glucokinase mutations: Clinical presentation and molecular genetic testing

    HORMONE RESEARCH