LUIS IGNACIO
GONZÁLEZ GRANADO
Profesor asociado de Ciencias de la Salud
Instituto de Salud Carlos III
Madrid, EspañaPublications in collaboration with researchers from Instituto de Salud Carlos III (3)
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
2022
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Impact of cytomegalovirus infection prior to hematopoietic stem cell transplantation in children with inborn errors of immunity
European Journal of Pediatrics, Vol. 181, Núm. 11, pp. 3889-3898
2018
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The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency
European Journal of Medical Genetics, Vol. 61, Núm. 7, pp. 393-398