Jorge D. Mendez Ríos1 https://doi.org/10.37980/im.journal.ggcl.en.20252602 Keywords: education, personalized medicine, molecular physiopathology, Latin America
West Syndrome: spectrum of disorders with diagnostic and therapeutic challenges
Daniela Lynett Flórez1 , Laura Andrea Rojas Buitrago1 , María Paola Lubo López1 , Laura Andrea Rojas Arbelaez1, María Alejandra Guardiola Riveros1 , Paula Andrea…
Protease S and Z inhibitor genotypes in the SERPINA1 gene in patients with COPD in the Republic of Panama
Lydier De Gracia1,2, Lorena Noriega3, Estefani Sánchez4, Luis Sotillo4, Aneth Samudio4, Omar Espinosa4 https://doi.org/10.37980/im.journal.ggcl.en.20242468 Keywords: Alpha – 1 – Antitrypsin, COPD,…
First Reported Case Of Diploid/Triploid Mosaicism In The Dominican Republic
Katlin A. De La Rosa Poueriet1 , Bary G. Bigay1 https://doi.org/10.37980/im.journal.ggcl.en.20252558 Keywords: diploid/triploid mosaicism, overgrowth syndrome, hemihypertrophy,…
Evaluation and classification of articles related to the MTHFR gene and OMIM evidence.
Edith Movazeb1 , Carlos Flores1, Rigoberto Ríos1, Sol Ríos1, Luis Fu1, Jorge D Mendez-Rios1,2 https://doi.org/10.37980/im.journal.ggcl.en.20252599 Keywords: genes,…
A Genomic Revolution: Advancing Health and Knowledge in Latin America
[Una revolución genómica: Avances en salud y conocimiento en América Latina] Jorge David Méndez Ríos1,2 1. Laboratory…
De novo variant in the COL1A1 gene associated with orphan genetic disease: Osteogenesis Imperfecta type I
[Variante de novo en el gen COL1A1 asociado a enfermedad genética huérfana: Osteogénesis Imperfecta tipo I]…
Hypotonic syndrome as a manifestation of an ultra-rare disease caused by a new and de novo variant in the PLA2G6 gene
[Síndrome hipotónico como manifestación de enfermedad ultrarara causada por variante nueva y de novo en el…
De novo genetic variant in epileptic encephalopathy: Importance of specific diagnosis
[Variante genética de novo en encefalopatía epiléptica: Importancia del diagnóstico específico] Johana Marcela Morán Fernández1,2, Lina…
Detection of a genetic variant of Apert syndrome
[Detección de una variante genética del Síndrome de Apert] Daniela Lynett1, María Paola Lubo López1, Laura…