Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in the pre-Columbian culture of Colombia

Por Pachajoa, Harry, Rodriguez, Carlos Armando
Publicado em 2014

Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: a case report

Por Ruiz-Botero, Felipe, Pachajoa, Harry
Publicado no J Med Case Rep (2016)

Mosaic trisomy 13 and a sacral appendage

Por Pachajoa, Harry, Meza Escobar, Luis Enrique
Publicado em 2013

Clinical and molecular characterisation of two siblings with fibrodysplasia ossificans progressiva, from the Colombian Pacific coast (South America)

Por Pachajoa, Harry, Ramirez Botero, Andres Felipe
Publicado no BMJ Case Rep (2015)

Achondroplasia among ancient populations of mesoamerica and South America: Iconographic and Archaeological Evidence.

Por Rodríguez, Carlos A, Isaza, Carolina, Pachajoa, Harry
Publicado em 2012

A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report

Por Pachajoa, Harry, Ruiz-Botero, Felipe, Isaza, Carolina
Publicado em 2014

Congenital varicella syndrome in a monochorionic diamniotic twin pregnancy

Por Villota, Vania A, Delgado, Julián, Pachajoa, Harry
Publicado em 2014

DeSanto-Shinawi Syndrome: First Case in South America

Por Vanegas, Sara, Ramirez-Montaño, Diana, Candelo, Estephania, Shinawi, Marwan, Pachajoa, Harry
Publicado no Mol Syndromol (2018)

Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype

Por Pachajoa, Harry, López-Quintero, William, Vanegas, Sara, Montoya, Claudia L, Ramírez-Montaño, Diana
Publicado no Appl Clin Genet (2018)

First Case Report of Prader–Willi-Like Syndrome in Colombia

Por Candelo, Estephania, Feinstein, Max M., Ramirez-Montaño, Diana, Gomez, Juan F., Pachajoa, Harry
Publicado no Front Genet (2018)

Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis

Por Vanegas, Sara, Sua, Luz Fernanda, López-Tenorio, Jaime, Ramírez-Montaño, Diana, Pachajoa, Harry
Publicado no Appl Clin Genet (2018)

Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report

Por Pachajoa, Harry, Ruiz-Botero, Felipe, Meza-Escobar, Luis Enrique, Villota-Delgado, Vania Alexandra, Ballesteros, Adriana, Padilla, Ivan, Duarte, Diana
Publicado no J Med Case Rep (2016)

Lysosomal Acid Lipase Deficiency, a Rare Pathology: The First Pediatric Patient Reported in Colombia

Por Botero, Verónica, Garcia, Victor H., Gomez-Duarte, Catalina, Aristizabal, Ana M., Arrunategui, Ana M., Echeverri, Gabriel J., Pachajoa, Harry
Publicado no Am J Case Rep (2018)

Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA

Por Tapiero-Rodriguez, Sandra M, Acosta Guio, Johanna C, Porras-Hurtado, Gloria Liliana, García, Natalia, Solano, Martha, Pachajoa, Harry, Velasco, Harvy M
Publicado no Appl Clin Genet (2018)