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

by Aristizábal E, Diaz-Ordóñez L, Candelo E, Pachajoa H
Published 2021-10-01

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

by Ríos-Serna LJ, Díaz-Ordoñez L, Candelo E, Pachajoa H
Published 2018-11-01

Novel ATP7A gene mutation in a patient with Menkes disease

by Caicedo-Herrera G, Candelo E, Pinilla J, Vidal A, Cruz S, Pachajoa HM
Published 2018-11-01

The Oral Health of Patients with DiGeorge Syndrome (22q11) Microdeletion: A Case Report

by Candelo E, Estrada-Mesa MA, Jaramillo A, Martinez-Cajas CH, Osorio JC, Pachajoa H
Published 2021-06-01

First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities

by Candelo E, Caicedo G, Rosso F, Ballesteros A, Orrego J, Escobar L, Lapunzina P, Nevado J, Pachajoa H
Published 2019-07-01

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

by Díaz-Ordóñez L, Ramírez-Montaño D, Candelo E, González-Restrepo C, Silva-Peña S, Rojas CA, Sepulveda Copete M, Echavarria HR, Pachajoa H
Published 2021-04-01