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International Journal of Women'S Health
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September 9, 2020
Laparoscopic Hysterectomy and Bilateral Salpingectomy in a Patient with Microduplication Syndrome (20p13p12.1) and a Bicornuate Uterus: An Unreported Association
Harry Pachajoa, Lina Perafan, Isabella Ramos, et al.
American Journal of Medical Genetics. Part A
|
July 28, 2025
Possible Founder Effect of Glycine Encephalopathy: Evidence of a GLDC c.2714T>G (p.Val905Gly) Common Variant in the Paisa Community Based in Cali, Colombia
Stiven Ernesto Sinisterra-Diaz, Carlos E Prada, Harry Pachajoa
Biomedica : Revista Del Instituto Nacional De Salud
|
November 5, 2015
[Prevalence of birth defects according to the level of care in two hospitals, Cali, Colombia, 2012-2013]
Harry Pachajoa, Vania A Villota, Luz Marina Cruz, et al.
International Journal of Molecular Sciences
|
November 13, 2025
Congenital Dermal Melanocytosis Exhibited in Two Patients with Hurler Syndrome: Clinical Characterization and Report of a Recurrent <i>IDUA</i> Allele in Colombia
Sara Vanegas, Diana Ramírez-Montaño, Alejandro Padilla-Guzmán, et al.
Molecular Genetics and Metabolism
|
October 9, 2025
Mucopolysaccharidosis VI: Therapeutic strategies and perspectives
Andrés Felipe Leal, Luis Eduardo Prieto, Harry Pachajoa, et al.
Congenital Anomalies
|
November 26, 2015
Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia
Andres Felipe Ramirez-Botero, Sabrina Eichler, Arndt Rolfs, et al.
Biomedica : Revista Del Instituto Nacional De Salud
|
June 30, 2011
Pentalogy of Cantrell: report of a case with consanguineous parents
Harry Pachajoa, Arelis Barragán, Angela Potes, et al.
Pharmacogenomics and Personalized Medicine
|
November 1, 2022
Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in the <i>NF1</i> Gene and a Mutation in <i>NR5A1</i>
Lina Perafan-Valdes, Sebastian Giraldo-Ocampo, Juliana Lores, et al.
Pharmacogenomics and Personalized Medicine
|
November 8, 2022
Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies
Harry Pachajoa, Eidith Gomez-Pineda, Sebastian Giraldo-Ocampo, et al.
BMC Pediatrics
|
October 9, 2024
2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report
Estephania Candelo, Sebastian Giraldo-Ocampo, Julian Nevado, et al.
Page
of 13
Search research articles
Search
Showing results (41-50 of 126) with videos related to
Sort By:
Page
of 13
International Journal of Women'S Health
|
September 9, 2020
Laparoscopic Hysterectomy and Bilateral Salpingectomy in a Patient with Microduplication Syndrome (20p13p12.1) and a Bicornuate Uterus: An Unreported Association
Harry Pachajoa, Lina Perafan, Isabella Ramos, et al.
American Journal of Medical Genetics. Part A
|
July 28, 2025
Possible Founder Effect of Glycine Encephalopathy: Evidence of a GLDC c.2714T>G (p.Val905Gly) Common Variant in the Paisa Community Based in Cali, Colombia
Stiven Ernesto Sinisterra-Diaz, Carlos E Prada, Harry Pachajoa
Biomedica : Revista Del Instituto Nacional De Salud
|
November 5, 2015
[Prevalence of birth defects according to the level of care in two hospitals, Cali, Colombia, 2012-2013]
Harry Pachajoa, Vania A Villota, Luz Marina Cruz, et al.
International Journal of Molecular Sciences
|
November 13, 2025
Congenital Dermal Melanocytosis Exhibited in Two Patients with Hurler Syndrome: Clinical Characterization and Report of a Recurrent <i>IDUA</i> Allele in Colombia
Sara Vanegas, Diana Ramírez-Montaño, Alejandro Padilla-Guzmán, et al.
Molecular Genetics and Metabolism
|
October 9, 2025
Mucopolysaccharidosis VI: Therapeutic strategies and perspectives
Andrés Felipe Leal, Luis Eduardo Prieto, Harry Pachajoa, et al.
Congenital Anomalies
|
November 26, 2015
Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia
Andres Felipe Ramirez-Botero, Sabrina Eichler, Arndt Rolfs, et al.
Biomedica : Revista Del Instituto Nacional De Salud
|
June 30, 2011
Pentalogy of Cantrell: report of a case with consanguineous parents
Harry Pachajoa, Arelis Barragán, Angela Potes, et al.
Pharmacogenomics and Personalized Medicine
|
November 1, 2022
Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in the <i>NF1</i> Gene and a Mutation in <i>NR5A1</i>
Lina Perafan-Valdes, Sebastian Giraldo-Ocampo, Juliana Lores, et al.
Pharmacogenomics and Personalized Medicine
|
November 8, 2022
Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies
Harry Pachajoa, Eidith Gomez-Pineda, Sebastian Giraldo-Ocampo, et al.
BMC Pediatrics
|
October 9, 2024
2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report
Estephania Candelo, Sebastian Giraldo-Ocampo, Julian Nevado, et al.
Page
of 13