Author: Enrique Daniel Austin-Ward While I was thinking about how to write this brief article, I…
Precision Personalized Medicine of Strategic Health Action in Niemann-Pick Disease type A/B
Authors: Juan Manuel Sánchez-Vargas, Lina Johanna Moreno Giraldo Introduction: Niemann-Pick A and B diseases (NPD), are…
First report of SAVI syndrome in Panama due to a variant of the STING1 gene in patient with emphysema and idiopathic pulmonary fibrosis
Authors: Enrique Daniel Austin-Ward, Edgardo Brid Introduction: The STING gene (Stimulator of Interferon Genes) emerges as…
RNAs Involved in Protein Synthesis: Fundamentals and Current Applications
Authors: Oleg Saldaña Bethancourth , Jorge David Mendez-Rios This paper focuses on the diversity of functions…
Editorial Team – 2023 Volumen 1 Issue 1
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…