YEAR 2024 VOLUME 2 ISSUE 3

Published: 2024-12-05

View YEAR 2024 VOLUME 2 ISSUE 3

Editorial Board

Editorial Board- Vol 2 Num 3 2024

Journal Genetics and Clinical Genomics

i

Editorial

A Genomic Revolution: Advancing Health and Knowledge in Latin America

Jorge David Méndez Ríos

1-2

Full Text (HTML)

PDF Open Access

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

3-10

Supplemental
Full Text (HTML)

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

Jhonatan Alzate Valencia, Lina-Johanna Moreno-Giraldo

11-18

Supplemental
Full Text (HTML)

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

Johana Marcela Morán Fernández, Lina Johanna Moreno Giraldo

19-25

Full Text (HTML)

PDF Open Access
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

26-35

Full Text (HTML)

PDF Open Access

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

36-51

Full Text (HTML)

PDF Open Access