Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Harry Pachajoa

Showing results (21-30 of 126) with videos related to

Pageof 13
Sort By:
Iranian Journal of Medical Sciences|August 24, 2019
Microduplication of Xp22.31 and <i>MECP2</i> Pathogenic Variant in a Girl with Rett Syndrome: A Case ReportEstephania Candelo, Diana Ramirez-Montaño, Harry Pachajoa
Archivos Argentinos De Pediatria|September 13, 2017
[Novel mutation in TSC2 gene in pediatric patient with clinical diagnosis of tuberous sclerosis]Gabriela Caicedo-Herrera, Estephania Candelo, Harry Pachajoa
Andes Pediatrica : Revista Chilena De Pediatria|March 23, 2022
[New variant in the ALG13 gene responsible for the congenital disorder of Is-type glycosylation in a male patient]Diana Ramírez-Montaño, Estephania Candelo, Harry Pachajoa
Journal of Research in Medical Sciences : the Official Journal of Isfahan University of Medical Sciences|August 7, 2014
Congenital varicella syndrome in a monochorionic diamniotic twin pregnancyVania A Villota, Julián Delgado, Harry Pachajoa
Journal of Medical Case Reports|June 15, 2014
A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case reportHarry Pachajoa, Felipe Ruiz-Botero, Carolina Isaza
Colombia Medica (Cali, Colombia)|June 4, 2014
Achondroplasia among ancient populations of mesoamerica and South America: Iconographic and Archaeological EvidenceCarlos A Rodríguez, Carolina Isaza, Harry Pachajoa
Frontiers in Genetics|November 27, 2025
Epigenetic landscape in lysosomal storage disorders: mechanisms and modulationAndrés Felipe Leal, Harry Pachajoa, Shunji Tomatsu
Ginecologia Y Obstetricia De Mexico|June 18, 2016
[Vascular disruption birth defects are not associated to chromosomal alterations]Harry Pachajoa, Yoseth Ariza, Carolina Isaza, et al.
International Journal of Molecular Sciences|November 13, 2025
Genomic Confluence: When Cerebrotendinous Xanthomatosis, Klinefelter Syndrome, and a BRCA2 Variant IntersectHarry Pachajoa, Sebastián Bonilla, Daniel Andrés Nieva-Posso
Revista De Salud Publica (Bogota, Colombia)|October 28, 2011
[Major birth defects in a third-level hospital in Cali, Colombia, 2004-2008]Harry Pachajoa, Yoseth Ariza, Carolina Isaza, et al.
Pageof 13

Showing results (21-30 of 126) with videos related to

Sort By:
Pageof 13
Iranian Journal of Medical Sciences|August 24, 2019
Microduplication of Xp22.31 and <i>MECP2</i> Pathogenic Variant in a Girl with Rett Syndrome: A Case ReportEstephania Candelo, Diana Ramirez-Montaño, Harry Pachajoa
Archivos Argentinos De Pediatria|September 13, 2017
[Novel mutation in TSC2 gene in pediatric patient with clinical diagnosis of tuberous sclerosis]Gabriela Caicedo-Herrera, Estephania Candelo, Harry Pachajoa
Andes Pediatrica : Revista Chilena De Pediatria|March 23, 2022
[New variant in the ALG13 gene responsible for the congenital disorder of Is-type glycosylation in a male patient]Diana Ramírez-Montaño, Estephania Candelo, Harry Pachajoa
Journal of Research in Medical Sciences : the Official Journal of Isfahan University of Medical Sciences|August 7, 2014
Congenital varicella syndrome in a monochorionic diamniotic twin pregnancyVania A Villota, Julián Delgado, Harry Pachajoa
Journal of Medical Case Reports|June 15, 2014
A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case reportHarry Pachajoa, Felipe Ruiz-Botero, Carolina Isaza
Colombia Medica (Cali, Colombia)|June 4, 2014
Achondroplasia among ancient populations of mesoamerica and South America: Iconographic and Archaeological EvidenceCarlos A Rodríguez, Carolina Isaza, Harry Pachajoa
Frontiers in Genetics|November 27, 2025
Epigenetic landscape in lysosomal storage disorders: mechanisms and modulationAndrés Felipe Leal, Harry Pachajoa, Shunji Tomatsu
Ginecologia Y Obstetricia De Mexico|June 18, 2016
[Vascular disruption birth defects are not associated to chromosomal alterations]Harry Pachajoa, Yoseth Ariza, Carolina Isaza, et al.
International Journal of Molecular Sciences|November 13, 2025
Genomic Confluence: When Cerebrotendinous Xanthomatosis, Klinefelter Syndrome, and a BRCA2 Variant IntersectHarry Pachajoa, Sebastián Bonilla, Daniel Andrés Nieva-Posso
Revista De Salud Publica (Bogota, Colombia)|October 28, 2011
[Major birth defects in a third-level hospital in Cali, Colombia, 2004-2008]Harry Pachajoa, Yoseth Ariza, Carolina Isaza, et al.
Pageof 13