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

by Harvy Velasco, Diana Ramírez-Montaño
Published 2018-03-01

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

by Estephania Candelo, Diana Ramirez-Montaño, Harry Pachajoa
Published 2019-07-01

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

by Lorena Díaz-Ordoñez, Diana Ramirez-Montaño, Estephania Candelo, Santiago Cruz, Harry Pachajoa
Published 2019-05-01

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

by Estephania Candelo, Max M. Feinstein, Diana Ramirez-Montaño, Juan F. Gomez, Harry Pachajoa, Harry Pachajoa
Published 2018-03-01

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

by Mario Angulo, Diana Ramirez-Montaño, Laura Torres-Canchala, Ximena García, Rodrigo Lemus, Ana M. Aristizabal, Danielle Floyd-Aristizábal, Diana M. Dávalos, Lorena Diaz-Ordoñez, Harry Pachajoa
Published 2021-06-01

A Possible Association Between Zika Virus Infection and CDK5RAP2 Mutation

by Estephania Candelo, Estephania Candelo, Ana Maria Sanz, Diana Ramirez-Montaño, Lorena Diaz-Ordoñez, Ana Maria Granados, Fernando Rosso, Julian Nevado, Pablo Lapunzina, Harry Pachajoa, Harry Pachajoa
Published 2021-03-01