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Papers published by Dr Estephania Candelo Jnr:
First Two Case Reports of Becker’s Type Myotonia Congenita in Colombia: Clinical and Genetic Features
Olave-Rodriguez JA, Bonilla-Escobar FJ, Candelo E, Rodriguez-Rojas LX
The Application of Clinical Genetics 2021, 14:473-479
Published Date: 16 December 2021
A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report
Aristizábal E, Diaz-Ordóñez L, Candelo E, Pachajoa H
The Application of Clinical Genetics 2021, 14:409-416
Published Date: 5 October 2021
The Oral Health of Patients with DiGeorge Syndrome (22q11) Microdeletion: A Case Report
Candelo E, Estrada-Mesa MA, Jaramillo A, Martinez-Cajas CH, Osorio JC, Pachajoa H
The Application of Clinical Genetics 2021, 14:267-277
Published Date: 1 June 2021
Evaluation of CYP2C19 Gene Polymorphisms in Patients with Acid Peptic Disorders Treated with Esomeprazole
Díaz-Ordóñez L, Ramírez-Montaño D, Candelo E, González-Restrepo C, Silva-Peña S, Rojas CA, Sepulveda Copete M, Echavarria HR, Pachajoa H
Pharmacogenomics and Personalized Medicine 2021, 14:509-520
Published Date: 29 April 2021
First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities
Candelo E, Caicedo G, Rosso F, Ballesteros A, Orrego J, Escobar L, Lapunzina P, Nevado J, Pachajoa H
The Application of Clinical Genetics 2019, 12:141-150
Published Date: 30 July 2019
A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome
Ríos-Serna LJ, Díaz-Ordoñez L, Candelo E, Pachajoa H
The Application of Clinical Genetics 2018, 11:157-162
Published Date: 23 November 2018
Novel ATP7A gene mutation in a patient with Menkes disease
Caicedo-Herrera G, Candelo E, Pinilla J, Vidal A, Cruz S, Pachajoa HM
The Application of Clinical Genetics 2018, 11:151-155
Published Date: 22 November 2018