LUIS IGNACIO
GONZÁLEZ GRANADO
Profesor asociado de Ciencias de la Salud
Instituto de Salud Carlos III
Madrid, EspañaPublications en collaboration avec des chercheurs de 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