Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Juliana Lores"'
Autor:
Ana M. Aristizabal, Carlos Alberto Guzmán-Serrano, María Isabel Lizcano, Walter Mosquera, Juliana Lores, Harry Pachajoa, Cesar Cely
Publikováno v:
Arquivos Brasileiros de Cardiologia, Vol 121, Iss 5 (2024)
Resumo Menina de seis anos com cardiomiopatia restritiva e hipertrabeculação na qual, devido ao início precoce da doença, foi realizado sequenciamento completo do exoma, revelando a presença de uma nova variante heterozigótica missense no gene
Externí odkaz:
https://doaj.org/article/68d85b46ac7f4d698332166c281c0af7
Autor:
Liliana Fernández-Trujillo, Laura Tapia, Marcela Vallejo, Marisol Aguirre, Juliana Lores, Luz F Sua
Publikováno v:
Clinical Medicine Insights: Circulatory, Respiratory and Pulmonary Medicine, Vol 13 (2019)
Lung carcinoma currently represents 1 of the leading causes of death from cancer worldwide and regionally. The molecular identification of sensitive mutations of targeted treatment have changed the strategies of pharmacologic management in non-small
Externí odkaz:
https://doaj.org/article/5bd65fed76e94c0e9e800dbba1719cd8
Autor:
Clara L. Grizales, Lina M. González, Maria A. Castrillon, Luz F. Sua, Juliana Lores, Marisol Aguirre, Liliana Fernández-Trujillo
Publikováno v:
Respiratory Medicine Case Reports, Vol 28, Iss , Pp - (2019)
Plastic bronchitis is a rare and underdiagnosed disease characterized by the formation and expectoration of bronchial casts of amorphous material, which can be potentially fatal. It is more frequent in pediatric population. Symptoms can range from ch
Externí odkaz:
https://doaj.org/article/9c45def2a01f4a0fa104b99335ecf719
Publikováno v:
Pharmacogenomics and Personalized Medicine. 15:913-918
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a9c93eadcfca7fb89877cf20252bb793
https://doi.org/10.2147/pgpm.s380908
https://doi.org/10.2147/pgpm.s380908
Publikováno v:
Pharmacogenomics and Personalized Medicine. 15:873-878
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1469e9412d4be50e45503bc35c100623
https://doi.org/10.2147/pgpm.s380796
https://doi.org/10.2147/pgpm.s380796
Autor:
Harry Pachajoa, Jose Antonio Nastasi-Catanese, Carlos E. Prada, Juliana Lores, Diana Ramirez-Montaño
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 184:1042-1051
Our aim was to characterize the phenotype and genotype of individuals with Noonan syndrome in Colombia. There are published cohorts of Noonan individuals from several countries in Latin America including Brazil, Chile, and Argentina, but none from Co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e2154d64f16f135c039b5658d06f066
https://doi.org/10.1002/ajmg.c.31869
https://doi.org/10.1002/ajmg.c.31869
Autor:
Harinder K Gill, Causes study, Nina McTiernan, Juliana Lores, Harry Pachajoa, Carlos E. Prada, Thomas Arnesen
Publikováno v:
European Journal of Human Genetics
280–288
280–288
Nearly half of all human proteins are acetylated at their N-termini by the NatA N-terminal acetyltransferase complex. NAA10 is evolutionarily conserved as the catalytic subunit of NatA in complex with NAA15, but may also have NatA-independent functio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c54994442244d7b987dbaf7ed45cdcb
http://europepmc.org/articles/PMC7868364
http://europepmc.org/articles/PMC7868364
Autor:
Harry Pachajoa, Juan David López-Ponce de León, Jose Antonio Nastasi-Catanese, Gabriel D Pinilla-Monsalve, Lisa X. Rodríguez-Rojas, Alejandro López, Juliana Lores
Publikováno v:
The Application of Clinical Genetics. 13:63-69
Hypertriglyceridemia is a common disease with only 2% of cases exhibiting monogenic mutations. Familial chylomicronemia syndrome (FCS) is a rare genetic condition associated with recurrent and severe episodes of pancreatitis and is mainly caused by m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::54300a2cac5f418281e950803e842d29
https://doi.org/10.2147/tacg.s243148
https://doi.org/10.2147/tacg.s243148
Autor:
Bladimir Pérez, María B. Iriarte, Mauricio Velásquez, Liliana Fernández Trujillo, Eliana I. Morales, Marisol Aguirre, Luz F. Sua, Juliana Lores
Publikováno v:
Revista Colombiana de Neumología. 31
Hemangioma cavernoso esternal y reconstrucción de la pared torácica anterior
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fbe2255d2cc0a359c37568c3152c26d9
https://doi.org/10.30789/rcneumologia.v31.n2.2019.370
https://doi.org/10.30789/rcneumologia.v31.n2.2019.370
Autor:
Daniel Arboleda, Marisol Aguirre, William Martínez, D. Palma, Eric Tafur, Mauricio Velásquez, Diego F. Bautista, L. Fernández Trujillo, Fernando Sanabria, Indira F. Cujiño, Juliana Lores
Publikováno v:
Revista Colombiana de Neumología. 31
Trasplante pulmonar en paciente testigo de Jehovah
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::da1a498d73694f08a793803d1bc9b29c
https://doi.org/10.30789/rcneumologia.v31.n2.2019.489
https://doi.org/10.30789/rcneumologia.v31.n2.2019.489