Understanding Molecular and Genomic Pathophysiology: Key to Effective Molecular Diagnosis

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…

Genotipos de inhibidores de la proteasa S y Z en el gen SERPINA1 en pacientes con EPOC en la República de Panamá

Lydier De Gracia1,2, Lorena Noriega3, Estefani Sánchez4, Luis Sotillo4, Aneth Samudio4, Omar Espinosa4 https://doi.org/10.37980/im.journal.ggcl.es.20242468 Palabras clave:  Alfa – 1 – Antitripsina,…

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 Introduction: The MTHFR gene, located…