Genomic analysis of a novel pathogenic variant in the gene LMNA associated with cardiac laminopathies found in Ecuadorian siblings: A case report

por Guevara-Ramírez, Patricia, Cadena-Ullauri, Santiago, Ibarra-Castillo, Rita, Laso-Bayas, José Luis, Paz-Cruz, Elius, Tamayo-Trujillo, Rafael, Ruiz-Pozo, Viviana A., Doménech, Nieves, Ibarra-Rodríguez, Adriana Alexandra, Zambrano, Ana Karina
Publicado 2023

Identification of mutations on the EMD and EYA4 genes associated with Emery–Dreifuss muscular dystrophy and deafness: a case report

por Zambrano, Ana Karina, Paz-Cruz, Elius, Cadena-Ullauri, Santiago, Guevara-Ramírez, Patricia, Ruiz-Pozo, Viviana A., Tamayo-Trujillo, Rafael, Ibarra-Castillo, Rita, Laso-Bayas, José Luis, Doménech, Nieves, Ibarra-Rodríguez, Adriana Alexandra, Hidalgo, Ricardo
Publicado 2023

Associations of MYPN, TTN, SCN5A, MYO6 and ELN Mutations With Arrhythmias and Subsequent Sudden Cardiac Death: A Case Report of an Ecuadorian Individual

por Paz-Cruz, Elius, Ruiz-Pozo, Viviana A., Cadena-Ullauri, Santiago, Guevara-Ramirez, Patricia, Tamayo-Trujillo, Rafael, Ibarra-Castillo, Rita, Laso-Bayas, Jose Luis, Onofre-Ruiz, Paul, Domenech, Nieves, Ibarra-Rodriguez, Adriana Alexandra, Zambrano, Ana Karina
Publicado 2023