Publicaciones en colaboración con investigadores/as de Hospital General Universitario de Alicante (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

2018

  1. What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis

    BMC Medical Genetics, Vol. 19, Núm. 1

2017

  1. Erratum to «Pseudopseudohypoparathyroidism vs. progressive osseous heteroplasia in absence of family history» (Medicina Clinica (2015) 145(10) (e25–e27)(S0025775315001116)(10.1016/j.medcli.2015.02.009))

    Medicina Clinica

2015

  1. Pseudopseudohypoparathyroidism vs progressive osseous heteroplasia in absence of family history

    Medicina Clinica

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

2007

  1. Panhypopituitarism: Genetic versus acquired etiological factors

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