Harry Pachajoa

41PUBLICATIONS
244CO-AUTHORS
Infant and child healthNeurology and neuromuscular diseasesNeonatologyCentral and Eastern European languages (incl. Russian)Disease surveillance
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Publications (41)

|Oct 25, 2026
Fatal Neonatal mTORopathy: Expanding the Phenotypic Spectrum of RRAGC-Associated Long-Olsen-Distelmaier Syndrome.

|Aug 27, 2026
Proposal of an Algorithm for the Clinical and Molecular Diagnosis of RASopathies Based on HPO Nomenclature.

|Aug 25, 2026
Combined Liver-Kidney Transplantation in Pediatric Patients From Colombia: A Case Series.

|May 04, 2026
Genetic Ancestry and Carrier Variant Frequency Enrichment in a Colombian Andean Population: Insights From the Eje Cafetero.

|Mar 23, 2026
A Retrospective Analysis of Dengue-associated Hemophagocytic Lymphohistiocytosis in a Dengue-endemic Country.

Daniel De Zubiría Posada, Vanessa Cabrera Guarín, Jacobo Triviño Arias

|Feb 19, 2026
Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to a Pathogenic LMNA Variant R482: Maternal Transmission to Non-Identical Twins.

Paola Andrea Duque-Cordoba, Lorena Diaz-Ordoñez, Laura Carvajal-Del-Castillo

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Frequent Collaborators

7 joint publications

Lorena Diaz-Ordoñez

6 joint publications

Estephania Candelo

6 joint publications

Juliana Lores

5 joint publications

Diego Medina Valencia