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Harry Pachajoa

Showing results (81-90 of 126) with videos related to

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Arquivos Brasileiros De Cardiologia|June 26, 2024
FLNC Associated Restrictive Cardiomyopathy and Hypertrabeculation, a Rare AssociationAna M Aristizabal, Carlos Alberto Guzmán-Serrano, María Isabel Lizcano, et al.
JMIR Research Protocols|November 14, 2024
Phenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-AnalysisLorena Diaz-Ordoñez, Paola Andrea Duque-Cordoba, Daniel Andrés Nieva-Posso, et al.
Journal of Medical Case Reports|September 28, 2016
Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case reportHarry Pachajoa, Felipe Ruiz-Botero, Luis Enrique Meza-Escobar, et al.
The American Journal of Case Reports|June 10, 2018
Lysosomal Acid Lipase Deficiency, a Rare Pathology: The First Pediatric Patient Reported in ColombiaVerónica Botero, Victor H Garcia, Catalina Gomez-Duarte, et al.
International Journal of Molecular Sciences|August 14, 2025
Case Report of Nephrogenic Diabetes Insipidus with a Novel Mutation in the <i>AQP2</i> GeneAlejandro Padilla-Guzmán, Vanessa Amparo Ochoa-Jiménez, Jessica María Forero-Delgadillo, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 17, 2021
The portrayal of dwarfism without skeletal dysplasia in art: Proportionate short stature due to growth hormone deficiency and other disordersPablo Lapunzina, Jair Tenorio-Castaño, Julián Nevado, et al.
Biomedica : Revista Del Instituto Nacional De Salud|December 20, 2016
[Prevalence of birth defects in Risaralda, 2010-2013]Gloria Liliana Porras-Hurtado, Olga Mercedes León-Castañeda, Jaime Molano-Hurtado, et al.
Biomedica : Revista Del Instituto Nacional De Salud|October 8, 2025
Cyclophosphamide post-haploidentical stem cell transplantation experience in an infant with IPEX syndromeDiego Medina, Camila Ariza-Insignares, Alejandro Restrepo, et al.
Journal of Medical Case Reports|January 10, 2020
Clear cell renal carcinoma synchronous with dedifferentiated liposarcoma: a case report and review of the literatureEstefania Beltran, Juan Esteban Garcia-Robledo, Lisa X Rodríguez-Rojas, et al.
Clinical Medicine Insights. Pediatrics|March 22, 2021
New PAX2 Mutation Associated with Polycystic Kidney Disease: A Case ReportJessica Maria Forero-Delgadillo, Vanessa Ochoa, Natalia Duque, et al.
Pageof 13

Showing results (81-90 of 126) with videos related to

Sort By:
Pageof 13
Arquivos Brasileiros De Cardiologia|June 26, 2024
FLNC Associated Restrictive Cardiomyopathy and Hypertrabeculation, a Rare AssociationAna M Aristizabal, Carlos Alberto Guzmán-Serrano, María Isabel Lizcano, et al.
JMIR Research Protocols|November 14, 2024
Phenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-AnalysisLorena Diaz-Ordoñez, Paola Andrea Duque-Cordoba, Daniel Andrés Nieva-Posso, et al.
Journal of Medical Case Reports|September 28, 2016
Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case reportHarry Pachajoa, Felipe Ruiz-Botero, Luis Enrique Meza-Escobar, et al.
The American Journal of Case Reports|June 10, 2018
Lysosomal Acid Lipase Deficiency, a Rare Pathology: The First Pediatric Patient Reported in ColombiaVerónica Botero, Victor H Garcia, Catalina Gomez-Duarte, et al.
International Journal of Molecular Sciences|August 14, 2025
Case Report of Nephrogenic Diabetes Insipidus with a Novel Mutation in the <i>AQP2</i> GeneAlejandro Padilla-Guzmán, Vanessa Amparo Ochoa-Jiménez, Jessica María Forero-Delgadillo, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 17, 2021
The portrayal of dwarfism without skeletal dysplasia in art: Proportionate short stature due to growth hormone deficiency and other disordersPablo Lapunzina, Jair Tenorio-Castaño, Julián Nevado, et al.
Biomedica : Revista Del Instituto Nacional De Salud|December 20, 2016
[Prevalence of birth defects in Risaralda, 2010-2013]Gloria Liliana Porras-Hurtado, Olga Mercedes León-Castañeda, Jaime Molano-Hurtado, et al.
Biomedica : Revista Del Instituto Nacional De Salud|October 8, 2025
Cyclophosphamide post-haploidentical stem cell transplantation experience in an infant with IPEX syndromeDiego Medina, Camila Ariza-Insignares, Alejandro Restrepo, et al.
Journal of Medical Case Reports|January 10, 2020
Clear cell renal carcinoma synchronous with dedifferentiated liposarcoma: a case report and review of the literatureEstefania Beltran, Juan Esteban Garcia-Robledo, Lisa X Rodríguez-Rojas, et al.
Clinical Medicine Insights. Pediatrics|March 22, 2021
New PAX2 Mutation Associated with Polycystic Kidney Disease: A Case ReportJessica Maria Forero-Delgadillo, Vanessa Ochoa, Natalia Duque, et al.
Pageof 13