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Papers published by Dr Carlos Restrepo:

Short Report

Functional Analysis of BRCA1 3’UTR Variants Predisposing to Breast Cancer

Sierra-Díaz DC, Cabrera R, Gonzalez-Vasquez LA, Angulo-Aguado M, Llinás-Caballero K, Fonseca-Mendoza DJ, Contreras-Bravo NC, Restrepo CM, Ortega-Recalde O, Morel A

The Application of Clinical Genetics 2024, 17:57-62

Published Date: 23 May 2024

Case report

A Novel Splice-Site Mutation in the ELN Gene Suggests an Alternative Mechanism for Vascular Elastinopathies

Velandia-Piedrahita CA, Morel A, Fonseca-Mendoza DJ, Huertas-Quiñones VM, Castillo D, Bonilla JD, Hernandez-Toro CJ, Miranda-Fernández MC, Restrepo CM, Cabrera R

The Application of Clinical Genetics 2020, 13:233-240

Published Date: 17 December 2020