Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in the NF1 Gene and a Mutation in NR5A1

por Perafan-Valdes, Lina, Giraldo-Ocampo, Sebastian, Lores, Juliana, Pachajoa, Harry
Publicado 2022

Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies

por Pachajoa, Harry, Gomez-Pineda, Eidith, Giraldo-Ocampo, Sebastian, Lores, Juliana
Publicado 2022

Histological Transformation to Small Cell Carcinoma of an Adenosquamous Carcinoma of the Lung With Epidermal Growth Factor Receptor Mutation in Exons 20 and 21 After Treatment With...

por Fernández-Trujillo, Liliana, Tapia, Laura, Vallejo, Marcela, Aguirre, Marisol, Lores, Juliana, Sua, Luz F
Publicado 2019

NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy

por McTiernan, Nina, Gill, Harinder, Prada, Carlos E., Pachajoa, Harry, Lores, Juliana, Arnesen, Thomas
Publicado 2020

Acute pneumonitis and diffuse alveolar hemorrhage secondary to silicone embolism: A case report

por Bejarano, Alejandro, Bautista, Diego F., Sua, Luz F., Pérez, Bladimir, Lores, Juliana, Aguirre, Marisol, Fernández-Trujillo, Liliana
Publicado 2020

Plastic bronchitis: A case report

por Grizales, Clara L., González, Lina M., Castrillon, Maria A., Sua, Luz F., Lores, Juliana, Aguirre, Marisol, Fernández-Trujillo, Liliana
Publicado 2019

A Novel APOC2 Mutation in a Colombian Patient with Recurrent Hypertriglyceridemic Pancreatitis

por Pinilla-Monsalve, Gabriel D, Lores, Juliana, Pachajoa, Harry, López-Ponce de León, Juan D, López, Alejandro, Rodríguez-Rojas, Lisa X, Nastasi-Catanese, José A
Publicado 2020

Hypertrophic Cardiomyopathy in a Latin American Center: A Single Center Observational Study

por López-Ponce de Leon, Juan David, Estacio, Mayra, Giraldo, Natalia, Escalante, Manuela, Rodas, Yorlany, Largo, Jessica, Lores, Juliana, Victoria, María Camila, Argote, Diana, Florez, Noel, Carrillo, Diana, Olaya, Pastor, Mejia, Mauricio, Gomez, Juan Esteban
Publicado 2023