Projects per year
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Dive into the research topics where Carlos Martin Restrepo Fernandez is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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A method to identify rare diseases with translational research in biogeographic isolates from the Boyacá department exploring ancestry.
Fonseca Mendoza, D. J., Ortega Recalde, O. J., Morel, A., Restrepo Fernandez, C. M., Usaquen Martínez, W., NIÑO, L. E. & SANCHEZ , Y.
12/23/21 → 11/26/24
Project: Research Project
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Implication of 3'UTR sequence variation in breast cancer.
Morel, A., Ortega Recalde, O. J., Restrepo Fernandez, C. M., Fonseca Mendoza, D. J., Contreras Bravo, N. C. & Cabrera Perez, R.
11/23/21 → 8/6/24
Project: Research Project
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Factores genéticos asociados a la severidad clínica en población colombiana afectada por SARS-CoV-2
Fonseca Mendoza, D. J., Ortega Recalde, O. J., Restrepo Fernandez, C. M., Contreras Bravo, N. C., Morel, A., Cabrera Perez, R., Usaquen Martínez, W., Casas Vargas, L. A., Mogollón Olivares, M. F., Abaunza, K. P. & Angulo Aguado, M.
2/1/22 → 8/31/23
Project: Research Project
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Genómica funcional para la descripción de mutaciones en el diagnóstico molecular del cáncer de seno esporádico en población colombiana
Restrepo Fernandez, C. M., Mantilla, W., Ortega Recalde, O. J., Contreras Bravo, N. C., sierra, D., Cabrera Perez, R., Fonseca Mendoza, D. J., Morel, A. & Angulo Aguado, M.
2/1/22 → 8/31/23
Project: Research Project
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Impact of genetic and non-genetic factors on the severity of SARS-CoV-2 infection: towards the generation of a risk prediction model in a Colombian population.
Fonseca Mendoza, D. J., Ortega Recalde, O. J., Restrepo Fernandez, C. M., Contreras Bravo, N. C., Corredor Orlandelli, D., Pineda Mateus, R. E., Rojas Polo, M. C., Morel, A., Cabrera Perez, R., Angulo Aguado, M., Triana, P. & González, M.
3/1/21 → 3/31/22
Project: Research Project
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Genetic and molecular aspects of drug-induced QT interval prolongation
Baracaldo-Santamaría, D., Llinás-Caballero, K., Corso-Ramirez, J. M., Restrepo, C. M., Dominguez-Dominguez, C. A., Fonseca-Mendoza, D. J. & Calderon - Ospina, C. A., Jul 28 2021, In: International Journal of Molecular Sciences. 22, 15, 8090.Research output: Contribution to journal › Review article › peer-review
Open AccessFile17 Scopus citations7 Downloads (Pure) -
Genetic profile of the dystrophin gene reveals new mutations in colombian patients affected with muscular dystrophinopathy
Triana-Fonseca, P., Parada-Márquez, J. F., Silva-Aldana, C. T., Zambrano-Arenas, D., Arias-Gomez, L. L., Morales-Fonseca, N., Medina-Méndez, E., Restrepo, C. M., Silgado-Guzmán, D. F. & Fonseca-Mendoza, D. J., Oct 1 2021, In: Application of Clinical Genetics. 14, p. 399-408 10 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Noonan Syndrome with Multiple Lentigines and PTPN11 Mutation: A Case with Intracerebral Hemorrhage
Orrego-González, E., Martin-Restrepo, C. & Velez-Van-Meerbeke, A., Mar 1 2021, In: Molecular Syndromology. 12, 1, p. 12-51 7 p., 63.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
A Novel Splice-Site Mutation in the ELN Gene Suggests an Alternative Mechanism for Vascular Elastinopathies
Velandia-Piedrahita, C. A., Morel, A., Fonseca-Mendoza, D. J., Huertas-Quiñones, V. M., Castillo, D., Bonilla, J. D., Hernandez-Toro, C. J., Miranda-Fernández, M. C., Restrepo, C. M. & Cabrera, R., Dec 17 2020, In: Application of Clinical Genetics. 13, p. 233-240 8 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
Síndrome Nefrótico: “De la teoría al manejo”
Restrepo Fernandez, C. M., Mejía, N., González Ch, L. E., Florez, A., Amaya, R. G. & Carvajal Barrios, G. A., Feb 27 2020, Pediatria, 52.Research output: Contribution to specialist publication › Article
Open Access
Prizes
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Mención de honor Premios de la Academia Nacional de Medicina 2019
De la Torre Cifuentes, Ligia Alejandra (Recipient), Silva Aldana, Claudia Tamar (Recipient), Muñoz-Ortiz, Juliana (Recipient), Piñeros, Laura (Recipient), Otero, Oscar (Recipient), Domínguez, Alejandra (Recipient), Faciolince, León (Recipient), Arcos Holzinger, Oscar Mauricio (Recipient), Mastronardi, Claudio Alberto (Recipient), Contreras Bravo, Nora Constanza (Recipient), Restrepo Fernandez, Carlos Martin (Recipient) & Arcos Burgos, Oscar Mauricio (Recipient), Oct 1 2019
Prize
File
Press/Media
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Research on Bioengineering Described by a Researcher at Instituto de Investigaciones Cientificas y Servicios de Alta Tecnologia (Comparison of Cost and Potency of Human Mesenchymal Stromal Cell Conditioned Medium Derived from 2- and ...)
Carlos Martin Restrepo Fernandez
8/23/23
1 item of Media coverage
Press/Media: Press / Media
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Recent Findings from Bogota Highlight Research in Pharmacogenomics (Pharmacogenomic profile of actionable molecular variants related to drugs commonly used in anesthesia: WES analysis reveals new mutations)
Dora Janeth Fonseca Mendoza & Carlos Martin Restrepo Fernandez
4/3/23
1 item of Media coverage
Press/Media: Press / Media
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Colombia’s military eyes new president Gustavo Petro with ‘deep unease’
Oscar Julian Palma Morales & Carlos Martin Restrepo Fernandez
8/4/22
1 item of Media coverage
Press/Media: Press / Media
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Álvaro Forero Navas: "Torture by the military is an undeniable fact of our history"
Carlos Martin Restrepo Fernandez
6/22/21
1 item of Media coverage
Press/Media: Press / Media