Publications by the researcher in collaboration with GUIOMAR PÉREZ DE NANCLARES LEAL (3)

2014

  1. Clinical, electrophysiological and magnetic resonance findings in a family with hereditary neuropathy with liability to pressure palsies caused by a novel PMP22 mutation

    Neuromuscular Disorders, Vol. 24, Núm. 1, pp. 56-62

2010

  1. Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gsα coding mutations and GNAS imprinting defects

    Journal of Medical Genetics, Vol. 47, Núm. 4, pp. 276-280

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

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