Publicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (12)

2024

  1. Melanoma Registry of the Spanish Academy of Dermatology and Venereology (REGESMEL): Description and Data in its First Year of Operation

    Actas Dermo-Sifiliograficas

  2. Recommendations for the future management of thrombocytopenia in patients with liver cirrhosis: A modified RAND/UCLA appropriateness method

    Gastroenterologia y Hepatologia, Vol. 47, Núm. 1, pp. 32-50

2023

  1. In-stent restenosis is associated with proliferative skin healing and specific immune and endothelial cell profiles: results from the RACHEL trial

    Frontiers in Immunology, Vol. 14

2021

  1. Sonidegib in the Treatment of Locally Advanced Basal Cell Carcinoma

    Actas Dermo-Sifiliograficas, Vol. 112, Núm. 4, pp. 295-301

2020

  1. Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients

    Scientific Reports, Vol. 10, Núm. 1

  2. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

    Brain, Vol. 143, Núm. 10, pp. 2929-2944

  3. Dermatoscopic features of thin (≤2 mm Breslow thickness) vs. thick (>2 mm Breslow thickness) nodular melanoma and predictors of nodular melanoma versus nodular non-melanoma tumours: a multicentric collaborative study by the International Dermoscopy Society

    Journal of the European Academy of Dermatology and Venereology, Vol. 34, Núm. 11, pp. 2541-2547

2019

  1. Sudden infant death as the most severe phenotype caused by genetic modulation in a family with atrial fibrillation

    Forensic Science International: Genetics, Vol. 43

2016

  1. Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene

    Brain and Development, Vol. 38, Núm. 1, pp. 167-172

  2. Erratum: Corrigendum to “Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene” (Brain and Development (2016) 38(1) (167–172) (S0387760415001023) (10.1016/j.braindev.2015.05.008))

    Brain and Development

2014

  1. Exome sequencing identifies a CHKB mutation in Spanish patient with Megaconial Congenital Muscular Dystrophy and mtDNA depletion

    European Journal of Paediatric Neurology, Vol. 18, Núm. 6, pp. 796-800

2013

  1. Prevalence of dystrophic epidermolysis bullosa in Spain: A population-based study using the 3-source capture-recapture method. Evidence of a need for improvement in care

    Actas Dermo-Sifiliograficas, Vol. 104, Núm. 10, pp. 890-896