| GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19 E Pairo-Castineira, K Rawlik, AD Bretherick, T Qi, Y Wu, I Nassiri, ... Nature 617 (7962), 764-768, 2023 | 64 | 2023 |
| Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report D Ramirez-Montaño, H Pachajoa Colombia medica 50 (1), 40-45, 2019 | 17 | 2019 |
| 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 | 14 | 2019 |
| DeSanto-Shinawi syndrome: first case in South America S Vanegas, D Ramirez-Montaño, E Candelo, M Shinawi, H Pachajoa Molecular Syndromology 9 (3), 154-158, 2018 | 13 | 2018 |
| Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis S Vanegas, LF Sua, J López-Tenorio, D Ramírez-Montaño, H Pachajoa The application of clinical genetics, 69-73, 2018 | 11 | 2018 |
| 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 Part C: Seminars in Medical Genetics …, 2021 | 9 | 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 | 9 | 2019 |
| Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype H Pachajoa, W López-Quintero, S Vanegas, CL Montoya, ... The application of clinical genetics, 15-21, 2018 | 9 | 2018 |
| Propuesta De Implementación De Un Sistema De Gestión De Seguridad Y Salud En El Trabajo Para El Sector Educativo (Régimen Especial: Docentes), Caso Piloto: Institución … C Arteaga, O Rodríguez, J Osorio, D Ramírez, P Sanabria, J Sánchez Recuperado De https, 2018 | 8 | 2018 |
| Importancia de la participación de los padres de familia en el proceso de enseñanza-aprendizaje M Arellano, G Contreras, J Esparza, D Huizar, D Ramírez, E Reyes Universidad interamericana para el desarrollo sede Aguascalientes, 2015 | 8 | 2015 |
| Apert syndrome, an approach to a clinical diagnosis. Case report D Ramírez, W Saldarriaga, H Pachajoa, C Isaza Revista Salud Uninorte 26 (1), 165-169, 2010 | 8* | 2010 |
| HLA‐A*11:01 and HLA‐C*04:01 are associated with severe COVID‐19 P Castro‐Santos, A Rojas‐Martinez, JA Riancho, P Lapunzina, C Flores, ... Hla 102 (6), 731-739, 2023 | 7 | 2023 |
| Evaluation of CYP2C19 Gene Polymorphisms in Patients with Acid Peptic Disorders Treated with Esomeprazole HP Lorena Díaz-Ordóñez, Diana Ramírez-Montaño, Estephania Candelo, Carolina ... Pharmacogenomics and Personalized Medicine 14, 509-520, 2021 | 6 | 2021 |
| Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in Colombia J Lores, CE Prada, D Ramírez‐Montaño, JA Nastasi‐Catanese, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2020 | 6 | 2020 |
| First Case Report of Prader–Willi-Like Syndrome in Colombia E Candelo, MM Feinstein, D Ramirez-Montaño, JF Gomez, H Pachajoa Frontiers in Genetics 9, 98, 2018 | 6 | 2018 |
| Estrategias de supervivencia campesina: alternativas organizativas para mercados especializados. El caso del municipio El Colegio, Cundinamarca D Ramírez Monografía de Grado].[Bogotá, Colombia] Escuela de Ciencias Humanas …, 2009 | 6 | 2009 |
| FKBP14 kyphoscoliotic Ehlers-Danlos Syndrome in adolescent patient: The first Colombian report F Ruiz-Botero, D Ramirez-Montaño, H Pachajoa Arch Argent Pediatr 117 (3), e274-e278, 2019 | 4 | 2019 |
| Propuesta de una pensión universal proporcional en México A Villagómez, G Ramírez México, CIDE, documento de trabajo, 2013 | 4 | 2013 |
| El proceso de liberalización comercial y su efecto sobre el mercado centroamericano de maíz: un análisis espacial de mercados J Cuéllar, D Ramírez CEPAL, México, 2009 | 4 | 2009 |
| Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian population LM Echeverry-Quiceno, E Candelo, E Gómez, P Solís, D Ramírez, D Ortiz, ... Scientific Reports 13 (1), 6869, 2023 | 3 | 2023 |
Harry PachajoaUniversidad Icesi, Fundación Valle del Lili在 icesi.edu.co 的电子邮件经过验证
