8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy

Por Rincon, Alejandra, Paez-Rojas, Paola, Suárez-Obando, Fernando
Publicado no Case Rep Genet (2019)

Urea Cycle Defects: Early-Onset Disease Associated with A208T Mutation in OTC Gene—Expanding the Clinical Phenotype

Por Sánchez, Ana Isabel, Rincón, Alejandra, García, Mary, Suárez-Obando, Fernando
Publicado no Case Rep Genet (2017)