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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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/Creation 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/Creation Project
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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/Creation 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 → 11/23/22
Project: Research/Creation Project
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Functional genomics for the description of mutations in the molecular diagnosis of sporadic colon and rectal cancer in a Colombian population.
Fonseca Mendoza, D. J., Morel, A., Restrepo Fernandez, C. M., Ortega Recalde, O. J., Cabrera Perez, R., angulo, M. & sierra, D.
1/1/21 → 12/31/22
Project: Research/Creation 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 AccessFile6 Scopus citations3 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 Access -
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 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 -
Possible Genetic Determinants of Response to Phenytoin in a Group of Colombian Patients With Epilepsy
Calderon-Ospina, C. A., Galvez, J. M., López-Cabra, C., Morales, N., Restrepo, C. M., Rodríguez, J., Aristizábal-Gutiérrez, F. A., Velez-van-Meerbeke, A., Laissue, P. & Fonseca-Mendoza, D. J., May 7 2020, In: Frontiers in Pharmacology. 11, 555.Research output: Contribution to journal › Article › peer-review
Open Access6 Scopus citations
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, C. T. (Recipient), Muñoz-Ortiz, J. (Recipient), Piñeros, L. (Recipient), Otero, O. (Recipient), Domínguez, A. (Recipient), Faciolince, L. (Recipient), Arcos Holzinger, O. M. (Recipient), Mastronardi, C. A. (Recipient), Contreras Bravo, Nora Constanza (Recipient), Restrepo Fernandez, Carlos Martin (Recipient) & Arcos Burgos, O. M. (Recipient), Oct 1 2019
Prize
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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
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High turmequé
Carlos Martin Restrepo Fernandez
4/21/18
1 item of Media coverage
Press/Media: Press / Media