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Harry Pachajoa

Showing results (31-40 of 126) with videos related to

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Archivos Argentinos De Pediatria|October 17, 2012
[Ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome, report of a case with variable expressivity]Luis Enrique Meza Escobar, Carolina Isaza, Harry Pachajoa
Cells|August 13, 2025
CRISPR/Cas-Based Ex Vivo Gene Therapy and Lysosomal Storage Disorders: A Perspective Beyond Cas9Andrés Felipe Leal, Luis Eduardo Prieto, Harry Pachajoa
Archivos Argentinos De Pediatria|May 8, 2019
FKBP14 kyphoscoliotic Ehlers-Danlos Syndrome in adolescent patient: the first Colombian reportFelipe Ruiz-Botero, Diana Ramírez-Montaño, Harry Pachajoa
Biomedica : Revista Del Instituto Nacional De Salud|September 6, 2018
Microcephaly in Colombia before the Zika outbreak: A systematic literature reviewEstephania Candelo, Gabriela Caicedo, Max Feinstein, et al.
Frontiers in Genetics|January 23, 2023
Case report: Craniofrontonasal syndrome caused by a novel variant in the <i>EFNB1</i> gene in a Colombian womanHarry Pachajoa, Diana Marcela Vasquez-Forero, Sebastian Giraldo-Ocampo
Skin Appendage Disorders|May 7, 2025
The First Colombian Patient with <i>CDH3</i>-Related Hypotrichosis with Juvenile Macular DystrophyLuis Eduardo Prieto, Diana Marcela Vasquez-Forero, Harry Pachajoa
Molecular Syndromology|February 11, 2026
Expanding the Clinical Spectrum of RERE-Related Disorders: A Case Report of Neurodevelopmental Disorder with Brain Malformations Including Chiari Type IHarry Pachajoa, Angela María Gutierrez-Obando, Andrés Felipe Leal
Andes Pediatrica : Revista Chilena De Pediatria|January 14, 2025
[Importance of genetics in pediatric nephrology]Juliana Lores, Harry Pachajoa, Vanessa Ochoa, et al.
The Application of Clinical Genetics|October 22, 2021
A Novel Intronic <i>KMT2D</i> Variant as a Cause of Kabuki Syndrome: A Case ReportErica Aristizábal, Lorena Diaz-Ordóñez, Estephania Candelo, et al.
The Application of Clinical Genetics|July 13, 2022
A Novel <i>POGZ</i> Variant in a Patient with Intellectual Disability and ObesitySebastian Giraldo-Ocampo, Rafael Adrian Pacheco-Orozco, Harry Pachajoa
Pageof 13

Showing results (31-40 of 126) with videos related to

Sort By:
Pageof 13
Archivos Argentinos De Pediatria|October 17, 2012
[Ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome, report of a case with variable expressivity]Luis Enrique Meza Escobar, Carolina Isaza, Harry Pachajoa
Cells|August 13, 2025
CRISPR/Cas-Based Ex Vivo Gene Therapy and Lysosomal Storage Disorders: A Perspective Beyond Cas9Andrés Felipe Leal, Luis Eduardo Prieto, Harry Pachajoa
Archivos Argentinos De Pediatria|May 8, 2019
FKBP14 kyphoscoliotic Ehlers-Danlos Syndrome in adolescent patient: the first Colombian reportFelipe Ruiz-Botero, Diana Ramírez-Montaño, Harry Pachajoa
Biomedica : Revista Del Instituto Nacional De Salud|September 6, 2018
Microcephaly in Colombia before the Zika outbreak: A systematic literature reviewEstephania Candelo, Gabriela Caicedo, Max Feinstein, et al.
Frontiers in Genetics|January 23, 2023
Case report: Craniofrontonasal syndrome caused by a novel variant in the <i>EFNB1</i> gene in a Colombian womanHarry Pachajoa, Diana Marcela Vasquez-Forero, Sebastian Giraldo-Ocampo
Skin Appendage Disorders|May 7, 2025
The First Colombian Patient with <i>CDH3</i>-Related Hypotrichosis with Juvenile Macular DystrophyLuis Eduardo Prieto, Diana Marcela Vasquez-Forero, Harry Pachajoa
Molecular Syndromology|February 11, 2026
Expanding the Clinical Spectrum of RERE-Related Disorders: A Case Report of Neurodevelopmental Disorder with Brain Malformations Including Chiari Type IHarry Pachajoa, Angela María Gutierrez-Obando, Andrés Felipe Leal
Andes Pediatrica : Revista Chilena De Pediatria|January 14, 2025
[Importance of genetics in pediatric nephrology]Juliana Lores, Harry Pachajoa, Vanessa Ochoa, et al.
The Application of Clinical Genetics|October 22, 2021
A Novel Intronic <i>KMT2D</i> Variant as a Cause of Kabuki Syndrome: A Case ReportErica Aristizábal, Lorena Diaz-Ordóñez, Estephania Candelo, et al.
The Application of Clinical Genetics|July 13, 2022
A Novel <i>POGZ</i> Variant in a Patient with Intellectual Disability and ObesitySebastian Giraldo-Ocampo, Rafael Adrian Pacheco-Orozco, Harry Pachajoa
Pageof 13