LUIS IGNACIO
GONZÁLEZ GRANADO
Profesor asociado de Ciencias de la Salud
Hospital Infantil Universitario Niño Jesus de Madrid
Madrid, EspañaPublicacions en col·laboració amb investigadors/es de Hospital Infantil Universitario Niño Jesus de Madrid (6)
2024
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A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency
Clinical chemistry, Vol. 70, Núm. 5, pp. 737-746
2023
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Inborn Error of STAT2-Dependent IFN-I Immunity in a Patient Presented with Hemophagocytic Lymphohistiocytosis and Multisystem Inflammatory Syndrome in Children
Journal of Clinical Immunology, Vol. 43, Núm. 6, pp. 1278-1288
2022
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Eczematous dermatitis and thrombocytopenia in a 10-month-old boy
JEADV Clinical Practice, Vol. 1, Núm. 1, pp. 62-65
2021
2019
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Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes
Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1
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Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases
Journal of Allergy and Clinical Immunology, Vol. 143, Núm. 1, pp. 359-368