Publications dans lesquelles il/elle collabore avec O. Pérez Rodríguez (4)

2018

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

    BMC Medical Genetics, Vol. 19, Núm. 1

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. Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: Choanal atresia leading to misdiagnosis of CHARGE syndrome

    European Journal of Endocrinology, Vol. 160, Núm. 4, pp. 711-717