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

Editorial Team – Volume 1 Issue 3 – 2023

Author: Jorge David Mendez-Rios The following physicians and researchers contributed as Editors and Reviewers to the…

Unlocking the Molecular Secrets: The Transformative Role of Genetic Insights in Modern Medicine

Author: Jorge David Mendez-Rios

Mother Genetics

Author: Enrique Daniel Austin-Ward

Precision Personalized Medicine of Strategic Health Action in Niemann-Pick Disease type A/B

Authors: Juan Manuel Sánchez-Vargas, Lina Johanna Moreno Giraldo

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

RNAs Involved in Protein Synthesis: Fundamentals and Current Applications

Authors: Oleg Saldaña Bethancourth , Jorge David Mendez-Rios

Editorial Team – 2023 Volumen 1 Issue 1

The following physicians and researchers contributed as Editors and Reviewers to the first issue of this…