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Harry Pachajoa

Showing results (51-60 of 126) with videos related to

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Molecular Syndromology|June 22, 2018
DeSanto-Shinawi Syndrome: First Case in South AmericaSara Vanegas, Diana Ramirez-Montaño, Estephania Candelo, et al.
The Application of Clinical Genetics|December 13, 2018
A novel de novo <i>TBX5</i> mutation in a patient with Holt-Oram syndromeLady J Ríos-Serna, Lorena Díaz-Ordoñez, Estephania Candelo, et al.
Frontiers in Genetics|July 7, 2023
Case report: Novel frameshift mutation in <i>LAMA2</i> gene causing congenital muscular dystrophy type 1ANatalia Diaz-Lombana, Lorena Diaz-Ordoñez, Juan David Gutierrez-Medina, et al.
Biomedica : Revista Del Instituto Nacional De Salud|December 16, 2014
Down syndrome passed from mother to childHarry Pachajoa, Antonio José Riascos, Diego Castro, et al.
Revista De Salud Publica (Bogota, Colombia)|April 29, 2017
[The need for clinical guidelines for the comprehensive management of patients with cleft lip and palate]Paola Guerrero-Abello, Yoseth Ariza-Araujo, Diego J Caycedo-García, et al.
Iranian Journal of Medical Sciences|June 12, 2019
Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case ReportLorena Díaz-Ordoñez, Diana Ramirez-Montaño, Estephania Candelo, et al.
Gaceta Medica De Mexico|June 21, 2019
Deficiencia de lipasa ácida lisosomal, una patología infrecuenteCatalina Gómez-Duarte, Víctor García, Verónica Botero, et al.
Frontiers in Genetics|April 6, 2018
First Case Report of Prader-Willi-Like Syndrome in ColombiaEstephania Candelo, Max M Feinstein, Diana Ramirez-Montaño, et al.
The Application of Clinical Genetics|April 5, 2018
Novel mutation in <i>ABBC9</i> gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotypeHarry Pachajoa, William López-Quintero, Sara Vanegas, et al.
Medicine|November 28, 2023
Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case reportPaola Andrea Duque-Cordoba, Lorena Diaz-Ordoñez, Juan David Gutierrez-Medina, et al.
Pageof 13

Showing results (51-60 of 126) with videos related to

Sort By:
Pageof 13
Molecular Syndromology|June 22, 2018
DeSanto-Shinawi Syndrome: First Case in South AmericaSara Vanegas, Diana Ramirez-Montaño, Estephania Candelo, et al.
The Application of Clinical Genetics|December 13, 2018
A novel de novo <i>TBX5</i> mutation in a patient with Holt-Oram syndromeLady J Ríos-Serna, Lorena Díaz-Ordoñez, Estephania Candelo, et al.
Frontiers in Genetics|July 7, 2023
Case report: Novel frameshift mutation in <i>LAMA2</i> gene causing congenital muscular dystrophy type 1ANatalia Diaz-Lombana, Lorena Diaz-Ordoñez, Juan David Gutierrez-Medina, et al.
Biomedica : Revista Del Instituto Nacional De Salud|December 16, 2014
Down syndrome passed from mother to childHarry Pachajoa, Antonio José Riascos, Diego Castro, et al.
Revista De Salud Publica (Bogota, Colombia)|April 29, 2017
[The need for clinical guidelines for the comprehensive management of patients with cleft lip and palate]Paola Guerrero-Abello, Yoseth Ariza-Araujo, Diego J Caycedo-García, et al.
Iranian Journal of Medical Sciences|June 12, 2019
Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case ReportLorena Díaz-Ordoñez, Diana Ramirez-Montaño, Estephania Candelo, et al.
Gaceta Medica De Mexico|June 21, 2019
Deficiencia de lipasa ácida lisosomal, una patología infrecuenteCatalina Gómez-Duarte, Víctor García, Verónica Botero, et al.
Frontiers in Genetics|April 6, 2018
First Case Report of Prader-Willi-Like Syndrome in ColombiaEstephania Candelo, Max M Feinstein, Diana Ramirez-Montaño, et al.
The Application of Clinical Genetics|April 5, 2018
Novel mutation in <i>ABBC9</i> gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotypeHarry Pachajoa, William López-Quintero, Sara Vanegas, et al.
Medicine|November 28, 2023
Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case reportPaola Andrea Duque-Cordoba, Lorena Diaz-Ordoñez, Juan David Gutierrez-Medina, et al.
Pageof 13