Clínica Universidad de Navarra (CUN)
Centro clínico de la Universidad de Navarra
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (36)
2024
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Access to melanoma drugs in Spain: a cross-sectional survey
Clinical and Translational Oncology, Vol. 26, Núm. 10, pp. 2572-2583
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Access to systemic treatment of non-melanoma skin cancer in Spain: a survey analysis
Clinical and Translational Oncology
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Clinical practice guideline on the management of vestibular schwannoma
Acta Otorrinolaringologica Espanola, Vol. 75, Núm. 2, pp. 108-128
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L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study
Brain, Vol. 147, Núm. 5, pp. 1653-1666
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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
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Novel risk loci for COVID-19 hospitalization among admixed American populations
eLife, Vol. 13
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Rafael Lorente de Nó (1902–1990)
Journal of Neurology, Vol. 271, Núm. 7, pp. 4727-4729
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Women with Gaucher Disease
Biomedicines, Vol. 12, Núm. 3
2023
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A second update on mapping the human genetic architecture of COVID-19
Nature
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Co-occurrence of mutations in NF1 and other susceptibility genes in pheochromocytoma and paraganglioma
Frontiers in Endocrinology, Vol. 13
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Diagnosis, evaluation and monitoring of acute hepatic porphyria
Medicina Clinica
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Exploring the Spectrum of RHOBTB2 Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review
Movement Disorders Clinical Practice, Vol. 10, Núm. 11, pp. 1671-1679
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Gene therapy restores the transcriptional program of hematopoietic stem cells in Fanconi anemia
Haematologica, Vol. 108, Núm. 10, pp. 2652-2663
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Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations
PloS one, Vol. 18, Núm. 7, pp. e0287515
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Neurological adverse events related to immune-checkpoint inhibitors in Spain: a retrospective cohort study
The Lancet Neurology, Vol. 22, Núm. 12, pp. 1150-1159
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Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Genome Medicine, Vol. 15, Núm. 1
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Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy
Pediatric Neurology, Vol. 144, pp. 11-15
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The vestibular system: Contributions of Lorente de Nó
Journal of Vestibular Research: Equilibrium and Orientation, Vol. 33, Núm. 5, pp. 287-297
2022
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Diagnostic and follow-up protocol for adult patients with neurofibromatosis type 1 in a Spanish reference unit
Revista Clinica Espanola, Vol. 222, Núm. 8, pp. 486-495
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Novel genes and sex differences in COVID-19 severity
Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806