A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report

por Aristizábal, Erica, Diaz-Ordóñez, Lorena, Candelo, Estephania, Pachajoa, Harry
Publicado 2021

A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome

por Ríos-Serna, Lady J, Díaz-Ordoñez, Lorena, Candelo, Estephania, Pachajoa, Harry
Publicado 2018

Case report: Novel frameshift mutation in LAMA2 gene causing congenital muscular dystrophy type 1A

por Diaz-Lombana, Natalia, Diaz-Ordoñez, Lorena, Gutierrez-Medina, Juan David, Pachajoa, Harry
Publicado 2023

Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report

por Díaz-Ordoñez, Lorena, Ramirez-Montaño, Diana, Candelo, Estephania, Cruz, Santiago, Pachajoa, Harry
Publicado 2019

Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report

por Duque-Cordoba, Paola Andrea, Diaz-Ordoñez, Lorena, Gutierrez-Medina, Juan David, Pachajoa, Harry
Publicado 2023

Hearing Loss in Patients With Morquio Syndrome: Protocol for a Scoping Review

por Diaz-Ordoñez, Lorena, Candelo, Estephania, Silva-Cuero, Katherine, Saldarriaga, Wilmar, Murgašová, Lenka, Magner, Martin, Pachajoa, Harry
Publicado 2022

Frequency of polymorphisms in the CYP2C9, VKORC1, and CYP4F2 genes related to the metabolism of Warfarin in healthy donors from Cali, Colombia

por Giraldo-Ocampo, Sebastian, Diaz-Ordoñez, Lorena, Silva-Cuero, Yisther Katherine, Gutierrez-Medina, Juan David, Candelo, Estephania, Diaz, Javier A., Pachajoa, Harry
Publicado 2023

Identification of Nontuberculous Mycobacteria in Drinking Water in Cali, Colombia

por Dávalos, Andrés F., Garcia, Pamela K., Montoya-Pachongo, Carolina, Rengifo, Andrea, Guerrero, Daniela, Díaz-Ordoñez, Lorena, Díaz, Gustavo, Ferro, Beatriz E.
Publicado 2021

A Possible Association Between Zika Virus Infection and CDK5RAP2 Mutation

por Candelo, Estephania, Sanz, Ana Maria, Ramirez-Montaño, Diana, Diaz-Ordoñez, Lorena, Granados, Ana Maria, Rosso, Fernando, Nevado, Julian, Lapunzina, Pablo, Pachajoa, Harry
Publicado 2021

Evaluation of CYP2C19 Gene Polymorphisms in Patients with Acid Peptic Disorders Treated with Esomeprazole

por Díaz-Ordóñez, Lorena, Ramírez-Montaño, Diana, Candelo, Estephania, González-Restrepo, Carolina, Silva-Peña, Sebastián, Rojas, Carlos Arturo, Sepulveda Copete, Mario, Echavarria, Hector Raul, Pachajoa, Harry
Publicado 2021

Methylation Status of GLP2R, LEP and IRS2 in Small for Gestational Age Children with and without Catch-up Growth

por Angulo, Mario, Ramirez-Montaño, Diana, Torres-Canchala, Laura, García, Ximena, Lemus, Rodrigo, Aristizabal, Ana M., Floyd-Aristizábal, Danielle, Dávalos, Diana M., Diaz-Ordoñez, Lorena, Pachajoa, Harry
Publicado 2021

Expression of BAFF, APRIL, and cognate receptor genes in lupus nephritis and potential use as urinary biomarkers

por Aguirre-Valencia, David, Ríos-Serna, Lady J., Posso-Osorio, Iván, Naranjo-Escobar, Juan, López, Daniel, Bedoya-Joaqui, Vanessa, Nieto-Aristizábal, Ivana, Castro, Andrés M., Díaz-Ordoñez, Lorena, Navarro, Erika P., Barrera, María Claudia, Echeverri, Alex, Cañas, Carlos A., Tobón, Gabriel J.
Publicado 2019