Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in Colombia
Lores, Juliana, Prada, Carlos E., Ramírez‐Montaño, Diana, Nastasi‐Catanese, José A., Pachajoa, Harry
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2020)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2020)
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Journal Article
Facial dysmorphologies in genetic disorders: exploring the ancestry component in a Colombian population
Martínez Abadías, Neus, Echeverry, Luis Miguel, Gómez, Eidith, Solís, Paula, Candelo, Estephania, Ramírez-Montaño, Diana, Ortiz, Diana, González, Alejandro, Sevillano, Xavier, Cuéllar, Juan Carlos, Pachajoa, Harry
Published in The FASEB journal (01.05.2022)
Published in The FASEB journal (01.05.2022)
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Journal Article
DeSanto-Shinawi Syndrome: First Case in South America
Vanegas, Sara, Ramirez-Montaño, Diana, Candelo, Estephania, Shinawi, Marwan, Pachajoa, Harry
Published in Molecular syndromology (01.05.2018)
Published in Molecular syndromology (01.05.2018)
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Journal Article
Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype
Pachajoa, Harry, López-Quintero, William, Vanegas, Sara, Montoya, Claudia L, Ramírez-Montaño, Diana
Published in Application of clinical genetics (01.01.2018)
Published in Application of clinical genetics (01.01.2018)
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Journal Article
Syndromic progressive neurodegenerative disease of infancy caused by novel variants in HIBCH: Report of two cases in Colombia
Candelo, Estephania, Cochard, Léa, Caicedo-Herrera, Gabriela, Granados, Ana M., Gomez, Juan F., Díaz-Ordoñez, Lorena, Ramirez-Montaño, Diana, Pachajoa, Harry
Published in Intractable & Rare Diseases Research (31.08.2019)
Published in Intractable & Rare Diseases Research (31.08.2019)
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Journal Article
Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia
Pachajoa, Harry, Acosta, Maria Amparo, Alméciga‐Díaz, Carlos J., Ariza, Yoseth, Diaz‐Ordoñez, Lorena, Caicedo‐Herrera, Gabriela, Cuartas, Daniel, Nastasi‐Catanese, Jose Antonio, Ramírez‐Montaño, Diana, Silva, Yiseth Katherine, Moreno, Lina, Satizabal, Jose, Garcia, Natalia, Montoya, Jorge, Prada, Carlos, Porras, Gloria, Velasco, Harvy, Candelo, Estephania
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2021)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2021)
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Journal Article
A Possible Association Between Zika Virus Infection and CDK5RAP2 Mutation
Candelo, Estephania, Sanz, Ana Maria, Ramirez-Montaño, Diana, Diaz-Ordoñez, Lorena, Granados, Ana Maria, Rosso, Fernando, Nevado, Julian, Lapunzina, Pablo, Pachajoa, Harry
Published in Frontiers in genetics (19.03.2021)
Published in Frontiers in genetics (19.03.2021)
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Journal Article
First Case Report of Prader-Willi-Like Syndrome in Colombia
Candelo, Estephania, Feinstein, Max M, Ramirez-Montaño, Diana, Gomez, Juan F, Pachajoa, Harry
Published in Frontiers in genetics (21.03.2018)
Published in Frontiers in genetics (21.03.2018)
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Journal Article
Methylation Status of GLP2R, LEP and IRS2 in Small for Gestational Age Children with and without Catch-up Growth
Angulo, Mario, Ramirez-Montaño, Diana, Torres-Canchala, Laura, García, Ximena, Lemus, Rodrigo, Aristizabal, Ana M., Floyd-Aristizábal, Danielle, Dávalos, Diana M., Diaz-Ordoñez, Lorena, Pachajoa, Harry
Published in Journal of clinical research in pediatric endocrinology (01.06.2021)
Published in Journal of clinical research in pediatric endocrinology (01.06.2021)
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Journal Article
Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype [Corrigendum]
Pachajoa, Harry, López-Quintero, William, Vanegas, Sara, Montoya, Claudia, Ramírez-Montaño, Diana
Published in Application of clinical genetics (01.01.2018)
Published in Application of clinical genetics (01.01.2018)
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Journal Article