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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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 → 3/1/22
Project: Research 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 project
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Genetic mapping of cardiac conduction disorders - Genetic architecture of ECG
Silva Aldana, C. T., Restrepo Fernandez, C. M., van Duijn, C. M., Willemsen, R. & Isaacs, A.
7/1/11 → 12/1/17
Project: Research project
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Creation of a DNA bank referring to pathologies associated with human reproduction and frequent neurological dysfunctions.
1/1/11 → 1/1/12
Project: Research project
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New algorithm for warfarin dosage. Genetic and non-genetic factors.
8/1/10 → 4/15/11
Project: Research project
Research output
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Noonan Syndrome with Multiple Lentigines and PTPN11 Mutation: A Case with Intracerebral Hemorrhage
Orrego-González, E., Martin-Restrepo, C. & Velez-Van-Meerbeke, A., 2021, (Accepted/In press) In: Molecular Syndromology.Research output: Contribution to journal › Article › peer-review
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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
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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 Access3 Scopus citations -
Síndrome Nefrótico: “De la teoría al manejo”
Restrepo Fernandez, C. M., Mejía, N., González Ch, L. E., Florez, A. & Amaya, R. G., Feb 27 2020, Pediatria, 52.Research output: Contribution to specialist publication › Article
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Congenital leptin deficiency and leptin gene missense mutation found in two colombian sisters with severe obesity
Yupanqui-Lozno, H., Bastarrachea, R. A., Yupanqui-Velazco, M. E., Alvarez-Jaramillo, M., Medina-Méndez, E., Giraldo-Peña, A. P., Arias-Serrano, A., Torres-Forero, C., Garcia-Ordoñez, A. M., Mastronardi, C. A., Restrepo, C. M., Rodriguez-Ayala, E., Nava-Gonzalez, E. J., Arcos-Burgos, M., Kent, J. W., Cole, S. A., Licinio, J. & Celis-Regalado, L. G., May 2019, In: Genes. 10, 5, 342.Research output: Contribution to journal › Article › peer-review
Open Access5 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