The following physicians and researchers contributed as Editors and Reviewers to the first issue of this…
Variant identification and interpretation
Author: Jorge David Mendez-Rios About this article This editorial highlights the complexity of variant identification through…
Pitt-Hopkins Syndrome: Report of the first case in the Dominican Republic
Author: Bary Bigay Mercedes About this article Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder caused…
Importance of identifying genetic cardiovarscular risk in pediatric patients
Authors: Juan Manuel Sánchez-Vargas, Lina Johanna Moreno-Giraldo About this article Familial hypercholesterolemia (FH) is an autosomal…
Genetics of pain and management of chronic pain by extracorporeal depuration therapies
Authors: Enrique Daniel Austin-Ward About this article The article delves into the intricate nature of pain,…
Report of a severe case of Allan-Herndon-Dudley syndrome
Author: Katlin Annyana De La Rosa Poueriet About this article This article discusses the complexity of…
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…
Editorial team
The following physicians and researchers contributed as Editors and Reviewers for the first number of this…