Editorial Board- Vol 2 Num 3 2024

[Equipo Editorial - Vol 2 Num 3 2024]

Journal Genetics and Clinical Genomics1



Published: 2024-12-05

Abstract

GENETICS AND CLINICAL GENOMICS JOURNAL

*Advancing Precision Medicine Through Research*

Volume 2, Issue 3 December 2024

Editorial Work for this issue provided by:

Dr. Jorge D. Méndez-Ríos

Dr. Horacio Lucero

Dr. Katlin Annyana De La Rosa Poueriet

Dr. Daniel E. Austin

 

INDEX

 

Editorial

A Genomic Revolution: Advancing Health and Knowledge in Latin America

Jorge David Méndez Ríos

 

Case report

Hypotonic syndrome as a manifestation of an ultra-rare disease caused by a new and de novo variant in the PLA2G6 gene

Jenny Adriana Morán Fernández, Lina Johanna Moreno Giraldo

 

De novo variant in the COL1A1 gene associated with orphan genetic disease: Osteogenesis Imperfecta type I

Jhonatan Alzate Valencia, Lina-Johanna Moreno-Giraldo

 

De novo genetic variant in epileptic encephalopathy: Importance of specific diagnosis

Johana Marcela Morán Fernández, Lina Johanna Moreno Giraldo

 

Detection of a genetic variant of Apert syndrome

Daniela Lynett, María Paola Lubo López, Laura Andrea Rojas Arbelaez, Paula Andrea Rodríguez Ocampo, Lev Bladimir Ramirez, Daniel Jimenez, Luis Gustavo Celis Regalado, Nathalia Fonque Ojeda, Gabriela García Montoya

 

Literature Review

Advances and Perspectives of Genetic Pathologies in the 21st century.

Paula Andrea Rodríguez Ocampo, David Luna Salazar, Karen Dayana Saavedra Pérez, Daniela Lynett Flórez, Luis Gustavo Celis Regalado

 

Editorial
Infomedic International
CMP #430
Panama, Rep. of Panama
Published for the Collaborative Network for Genetics and Clinical Genomics.
First edition: June 2023.
Current edition: August 2024.
eISSN L 3072-9610 (English)
eISSN 2953-3139 (Spanish)

This publication is distributed under the CC-BY-NC license.

 


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