Publications in collaboration with researchers from Centro de Investigación Biomédica en Red sobre Enfermedades Raras (4)

2023

  1. Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain

    Amyloid, Vol. 30, Núm. 2, pp. 199-207

2021

  1. Cardiovascular effects of mexiletine for treatment of myotonia in myotonic dystrophy type 1

    Revista Espanola de Cardiologia, Vol. 74, Núm. 11, pp. 986-987

2011

  1. Un caso de síndrome de Noonan con enfermedad celíaca debido a mutación en SOS1

    Medicina Clinica

2010

  1. Carrier detection and prenatal diagnosis of congenital adrenal hyperplasia must identify 'apparently mild' CYP21A2 alleles which associate neonatal salt-wasting disease

    Prenatal Diagnosis, Vol. 30, Núm. 8, pp. 758-763