INSTITUTO DE INVESTIGACIÓN BIOMÉDICA DE SALAMANCA
Institute
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublications in collaboration with researchers from Centro de Investigación Biomédica en Red sobre Enfermedades Raras (66)
2024
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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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Engineered T cells secreting anti-BCMA T cell engagers control multiple myeloma and promote immune memory in vivo
Science translational medicine, Vol. 16, Núm. 734, pp. eadg7962
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Rafael Lorente de Nó (1902–1990)
Journal of Neurology
2023
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A second update on mapping the human genetic architecture of COVID-19
Nature
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Action Induced Myoclonus in a 11-Year-Old Boy with Silver-Russell Syndrome
Movement Disorders Clinical Practice
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Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients
Journal of Medical Genetics, Vol. 60, Núm. 7, pp. 644-654
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Clinical parameters affecting survival outcomes in patients with low-grade serous ovarian carcinoma: An international multicentre analysis
CMAJ. Canadian Medical Association Journal, Vol. 66, Núm. 3, pp. E310-E320
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Driving role of head and neck cancer cell secretome on the invasion of stromal fibroblasts: Mechanistic insights by phosphoproteomics
Biomedicine and Pharmacotherapy, Vol. 158
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Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant
Journal of medical genetics, Vol. 60, Núm. 10, pp. 965-973
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NLRP3 inflammasome activation and symptom burden in KRAS-mutated CMML patients is reverted by IL-1 blocking therapy
Cell Reports Medicine, Vol. 4, Núm. 12
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Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2
British Journal of Cancer, Vol. 128, Núm. 12, pp. 2283-2294
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The outcome of boosting mitochondrial activity in alcohol-associated liver disease is organ-dependent
Hepatology (Baltimore, Md.), Vol. 78, Núm. 3, pp. 878-895
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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
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p53 and ovarian carcinoma survival: an Ovarian Tumor Tissue Analysis consortium study
Journal of Pathology: Clinical Research, Vol. 9, Núm. 3, pp. 208-222
2022
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CD34+CD19−CD22+ B-cell progenitors may underlie phenotypic escape in patients treated with CD19-directed therapies
Blood, Vol. 140, Núm. 1, pp. 38-44
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CDK5RAP3, a New BRCA2 Partner That Regulates DNA Repair, Is Associated with Breast Cancer Survival
Cancers, Vol. 14, Núm. 2
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Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry
International journal of molecular sciences, Vol. 23, Núm. 18
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Clonal heterogeneity and rates of specific chromosome gains are risk predictors in childhood high-hyperdiploid B-cell acute lymphoblastic leukemia
Molecular Oncology, Vol. 16, Núm. 16, pp. 2899-2919
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Novel genes and sex differences in COVID-19 severity
Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806
2021
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A clinico-pathological and molecular analysis reveals differences between solitary (early and late-onset) and synchronous rectal cancer
Scientific Reports, Vol. 11, Núm. 1