| Identification of Nontuberculous Mycobacteria in Drinking Water in Cali, Colombia AF Dávalos, PK Garcia, C Montoya-Pachongo, R Andrea, G Daniela, ... International Journal of Environmental Research and Public Health 18 (16), 2021 | 18 | 2021 |
| Syndromic intellectual disability caused by a novel truncating variant in AHDC1: a case report L Díaz-Ordoñez, D Ramirez-Montaño, E Candelo, S Cruz, H Pachajoa Iranian Journal of Medical Sciences 44 (3), 257, 2019 | 15 | 2019 |
| Expression of BAFF, APRIL, and cognate receptor genes in lupus nephritis and potential use as urinary biomarkers D Aguirre-Valencia, LJ Ríos-Serna, I Posso-Osorio, J Naranjo-Escobar, ... Journal of Translational Autoimmunity 3, 100027, 2020 | 14 | 2020 |
| Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia H Pachajoa, MA Acosta, CJ Alméciga-Díaz, Y Ariza, L Diaz-Ordoñez, ... American Journal of Medical Genetics (AJMG), 1-8, 2021 | 10 | 2021 |
| Syndromic progressive neurodegenerative disease of infancy caused by novel variants in HIBCH: report of two cases in Colombia E Candelo, L Cochard, G Caicedo-Herrera, AM Granados, JF Gomez, ... Intractable & Rare Diseases Research 8 (3), 187-193, 2019 | 10 | 2019 |
| A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome LJ Ríos-Serna, L Díaz-Ordoñez, E Candelo, H Pachajoa The Application of Clinical Genetics, 157-162, 2018 | 8 | 2018 |
| Evaluation of CYP2C19 Gene Polymorphisms in Patients with Acid Peptic Disorders Treated with Esomeprazole L Díaz-Ordóñez, D Ramírez-Montaño, E Candelo, C González-Restrepo, ... Pharmacogenomics and Personalized Medicine 14, 509-520, 2021 | 6 | 2021 |
| A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report E Aristizábal, L Diaz-Ordóñez, E Candelo, H Pachajoa The Application of Clinical Genetics, 409-416, 2021 | 4 | 2021 |
| A possible association between Zika virus infection and CDK5RAP2 mutation E Candelo, AM Sanz, D Ramirez-Montaño, L Diaz-Ordoñez, ... Frontiers in Genetics 12, 530028, 2021 | 4 | 2021 |
| Hearing loss in patients with morquio syndrome: protocol for a scoping review L Diaz-Ordoñez, E Candelo, K Silva-Cuero, W Saldarriaga, L Murgašová, ... JMIR Research Protocols 11 (6), e32986, 2022 | 3 | 2022 |
| Methylation Status of GLP2R, LEP and IRS2 in Small for Gestational Age Children with and without Catch-up Growth M Angulo, D Ramirez-Montaño, L Torres-Canchala, X García, R Lemus, ... Journal of Clinical Research in Pediatric Endocrinology 13 (2), 136, 2021 | 3 | 2021 |
| Frequency of polymorphisms in the CYP2C9, VKORC1, and CYP4F2 genes related to the metabolism of Warfarin in healthy donors from Cali, Colombia S Giraldo-Ocampo, L Diaz-Ordoñez, YK Silva-Cuero, ... Medicine 102, 2023 | 1 | 2023 |
| Identification of Novel ADGRV1 and KCNC2 Variants Using Whole-Exome Sequencing in Two Colombian Patients with Usher and Encephalopathy Syndromes E Candelo, L Diaz-Ordoñez, R Pacheco, E Ruiz, H Pachajoa | 1 | 2021 |
| Hearing loss in patients with Morquio A syndrome: A scoping review L Diaz-Ordoñez, PA Duque-Cordoba, K Silva-Cuero, ... Medicine 104 (2), e41128, 2025 | | 2025 |
| Familial LCAT Deficiency and Low HDL-C Levels: In silico Characterization of Two Rare LCAT Missense Mutations S Ciro Acosta, L Díaz-Ordóñez, JD Gutierrez-Medina, YK Silva-Cuero, ... The Application of Clinical Genetics, 23-32, 2024 | | 2024 |
| Phenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-Analysis L Diaz-Ordoñez, PA Duque-Cordoba, DA Nieva-Posso, W Saldarriaga, ... JMIR research protocols 13, 2024 | | 2024 |
| African-Colombian woman with preeclampsia and high-risk APOL1 genotype: A case report CEM Duran, JD Gutierrez-Medina, J Triviño Arias, LM Sandoval-Calle, ... Medicine 103 (44), 1-6, 2024 | | 2024 |
| Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report PA Duque-Cordoba, L Diaz-Ordoñez, JD Gutierrez-Medina, H Pachajoa Medicine 102 (47), e35600, 2023 | | 2023 |
| Case report: Novel frameshift mutation in LAMA2 gene causing congenital muscular dystrophy type 1A N Diaz-Lombana, L Diaz-Ordoñez, JD Gutierrez-Medina, H Pachajoa Frontiers in Genetics 14, 1158350, 2023 | | 2023 |
| Fatal outcome in a patient with an unknown mitochondrial disease after anesthetic exposure. A clinical literatura review from the anesthetic perspective E Candelo, A Arango, D Franco, AM Granados, L Diaz-Ordoñez, ... | | 2023 |
