Publications en collaboration avec des chercheurs de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (88)

2024

  1. Access to melanoma drugs in Spain: a cross-sectional survey

    Clinical and Translational Oncology, Vol. 26, Núm. 10, pp. 2572-2583

  2. Access to systemic treatment of non-melanoma skin cancer in Spain: a survey analysis

    Clinical and Translational Oncology

  3. Cajal’s contributions to vestibular research

    Frontiers in Neuroanatomy , Vol. 18

  4. Clinical practice guideline on the management of vestibular schwannoma

    Acta Otorrinolaringologica Espanola, Vol. 75, Núm. 2, pp. 108-128

  5. High prevalence of venous thrombotic events in Cushing’s syndrome: data from ERCUSYN and details in relation to surgery

    European Journal of Endocrinology, Vol. 190, Núm. 1, pp. 75-85

  6. L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study

    Brain, Vol. 147, Núm. 5, pp. 1653-1666

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

    Actas Dermo-Sifiliograficas, Vol. 115, Núm. 7, pp. 663-669

  8. NetActivity enhances transcriptional signals by combining gene expression into robust gene set activity scores through interpretable autoencoders

    Nucleic Acids Research, Vol. 52, Núm. 9, pp. e44

  9. Novel risk loci for COVID-19 hospitalization among admixed American populations

    eLife, Vol. 13

  10. Profile of plasma microRNAs as a potential biomarker of Wilson’s disease

    Journal of Gastroenterology, Vol. 59, Núm. 10, pp. 921-931

  11. Rafael Lorente de Nó (1902–1990)

    Journal of Neurology, Vol. 271, Núm. 7, pp. 4727-4729

  12. Relationship between sex, APOE genotype, endocannabinoids and cognitive change in older adults with metabolic syndrome during a 3-year Mediterranean diet intervention

    Nutrition Journal, Vol. 23, Núm. 1

  13. Systemic messenger RNA replacement therapy is effective in a novel clinically relevant model of acute intermittent porphyria developed in non-human primates

    Gut

  14. Women with Gaucher Disease

    Biomedicines, Vol. 12, Núm. 3

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

  2. Co-occurrence of mutations in NF1 and other susceptibility genes in pheochromocytoma and paraganglioma

    Frontiers in Endocrinology, Vol. 13

  3. Diagnosis, evaluation and monitoring of acute hepatic porphyria

    Medicina Clinica

  4. Epimutation detection in the clinical context: guidelines and a use case from a new Bioconductor package

    Epigenetics, Vol. 18, Núm. 1

  5. Epimutation detection in the clinical context: guidelines and a use case from a new Bioconductor package

    Zenodo

  6. Epimutation detection in the clinical context: guidelines and a use case from a new Bioconductor package

    Zenodo