Incidentalome in Neurogenetics: Pathogenic Variant of NSD1 in a Patient With Spinocerebellar Ataxia (SCA)

por Velasco, Harvy, Ramírez-Montaño, Diana
Publicado 2018

Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report

por Ramirez-Montaño, Diana, Pachajoa, Harry
Publicado 2019

Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report

por Candelo, Estephania, Ramirez-Montaño, Diana, Pachajoa, Harry
Publicado 2019

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 ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype

por Pachajoa, Harry, López-Quintero, William, Vanegas, Sara, Montoya, Claudia L, Ramírez-Montaño, Diana
Publicado 2018

First Case Report of Prader–Willi-Like Syndrome in Colombia

por Candelo, Estephania, Feinstein, Max M., Ramirez-Montaño, Diana, Gomez, Juan F., Pachajoa, Harry
Publicado 2018

Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis

por Vanegas, Sara, Sua, Luz Fernanda, López-Tenorio, Jaime, Ramírez-Montaño, Diana, Pachajoa, Harry
Publicado 2018

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