Harry M. Pachajoa

Cali, VAC, Colombia

Last Updated: 09/26/2026

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Found 134 publications

Proposal of an Algorithm for the Clinical and Molecular Diagnosis of RASopathies Based on HPO Nomenclature.

Proposal of an Algorithm for the Clinical and Molecular Diagnosis of RASopathies Based on HPO Nomenclature.

Journal: International journal of molecular sciences

Published: June 17, 2026

Combined Liver-Kidney Transplantation in Pediatric Patients From Colombia: A Case Series.

Combined Liver-Kidney Transplantation in Pediatric Patients From Colombia: A Case Series.

Journal: Pediatric transplantation

Published: April 13, 2026

Expanding the KBG syndrome phenotype through 2D facial morphometry, clinical and molecular characterization.

Expanding the KBG syndrome phenotype through 2D facial morphometry, clinical and molecular characterization.

Journal: Biomedical reports

Published: March 09, 2026

Genetic Ancestry and Carrier Variant Frequency Enrichment in a Colombian Andean Population: Insights From the Eje Cafetero.

Genetic Ancestry and Carrier Variant Frequency Enrichment in a Colombian Andean Population: Insights From the Eje Cafetero.

Journal: American journal of medical genetics. Part A

Published: January 28, 2026

Tay-Sachs disease models: From cellular and animal models to treatment perspectives.

Tay-Sachs disease models: From cellular and animal models to treatment perspectives.

Journal: Molecular genetics and metabolism

Published: January 15, 2026

Symptomatic palatal myoclonus as a rare manifestation of neuro-behcet́s disease: A case report.

Symptomatic palatal myoclonus as a rare manifestation of neuro-behcet́s disease: A case report.

Journal: Clinical neurophysiology practice

Published: November 25, 2025

Expanding the Clinical Spectrum of RERE-Related Disorders: A Case Report of Neurodevelopmental Disorder with Brain Malformations Including Chiari Type I.

Expanding the Clinical Spectrum of RERE-Related Disorders: A Case Report of Neurodevelopmental Disorder with Brain Malformations Including Chiari Type I.

Journal: Molecular syndromology

Published: October 30, 2025

Genomic Confluence: When Cerebrotendinous Xanthomatosis, Klinefelter Syndrome, and a BRCA2 Variant Intersect.

Genomic Confluence: When Cerebrotendinous Xanthomatosis, Klinefelter Syndrome, and a BRCA2 Variant Intersect.

Journal: International journal of molecular sciences

Published: October 02, 2025

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

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

Journal: The application of clinical genetics

Published: September 26, 2025

Mucopolysaccharidosis VI: Therapeutic strategies and perspectives.

Mucopolysaccharidosis VI: Therapeutic strategies and perspectives.

Journal: Molecular genetics and metabolism

Published: August 26, 2025

Epigenetic landscape in lysosomal storage disorders: mechanisms and modulation.

Epigenetic landscape in lysosomal storage disorders: mechanisms and modulation.

Journal: Frontiers in genetics

Published: August 05, 2025

Recent advances in mucopolysaccharidosis IVA treatment.

Recent advances in mucopolysaccharidosis IVA treatment.

Journal: Orphanet journal of rare diseases

Published: June 05, 2025

Showing 1-12 of 134

Last Updated: 09/26/2026