[Avances y Perspectivas de las Patologías Genéticas en el siglo XXI] Paula Andrea Rodríguez Ocampo1, David…
Category: Featured articles
Editorial Team – Vol 2 Num 1 2024
Year 2024, Volume 2, Issue 1Published: April 30th, 2024 Editors and Reviewers The following team of…
Characterization and prevalence of comorbidities in pediatric patients with Down syndrome in the Dominican Republic
Authores: Katlin De La Rosa Poueriet1, Andrea Irina Servalle Mella2, Bary Bigay Mercedes3
Current genomic diagnostic challenges in Hemophagocytic Syndromes in pediatrics: Case report
Authors: Juan Manuel Sánchez-Vargas1, Lina Johanna Moreno Giraldo1
Aggrecanopathies: Report of a Spondyloepiphyseal Dysplasia Kimberley type (SEDK) in a family, caused by a previously undescribed likely pathogenic variant of the ACAN gene
Authors: Enrique Daniel Austin-Ward1, Jean Villegas2
Membranous nephropathy: genetics, antigens and antibodies
Authors: Karen Courville1, Norman Bustamante2
Huntington’s disease in the Panamanian population, 2007-2021
Introduction: Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder characterized by progressive motor, cognitive and…
Personalized medicine and its impact in healthcare cost.
Personalized medicine, also known as precision medicine, is a rapidly advancing approach to healthcare that tailors…
Comparative Genomic hybridization in prenatal diagnostics
Introduction: Prenatal diagnosis is the process of detecting genetic abnormalities in a developing fetus before birth.…
Importance of molecular genetics in health
Molecular genetics is a rapidly growing field that has had a significant impact on modern healthcare.…