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Papers published by Dr Lorena Diaz-Ordoñez:
Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to a Pathogenic LMNA Variant R482: Maternal Transmission to Non-Identical Twins
Duque-Cordoba PA, Diaz-Ordoñez L, Carvajal-del-Castillo L, Marmolejo D, Leal AF, Pachajoa H
The Application of Clinical Genetics 2026, 19:570428
Published Date: 13 February 2026
Familial LCAT Deficiency and Low HDL-C Levels: In silico Characterization of Two Rare LCAT Missense Mutations
Ciro Acosta S, Díaz-Ordóñez L, Gutierrez-Medina JD, Silva-Cuero YK, Arango-Vélez LG, García-Trujillo AO, Pachajoa H
The Application of Clinical Genetics 2024, 17:23-32
Published Date: 20 February 2024
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
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
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