Exome sequencing reveals three homozygous missense variants in SNRPA in two sisters with syndromic intellectual disability
Rangel‐Sosa, M.M., Figuera‐Villanueva, L.E., González‐Ramos, I.A., Pérez‐Páramo, Y.X., Martínez‐Jacobo, L.A., Arnaud‐López, L., Nastasi‐Catanese, J.A., Rivas‐Estilla, A.M., Galán‐Huerta, K.A., Rojas‐Martínez, A., Ortiz‐López, R., Córdova‐Fletes, C.
Published in Clinical genetics (01.06.2018)
Published in Clinical genetics (01.06.2018)
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The Unique Spectrum of MUTYH Germline Mutations in Colombian Patients with Extracolonic Carcinomas
Rodriguez-Rojas, Lisa Ximena, Candelo, Estephania, Pachajoa, Harry, Garcia-Robledo, Juan Esteban, Nastasi-Catanese, Jose Antonio, Olave-Rodriguez, Jorge Andres, Zambrano, Angela R
Published in Application of clinical genetics (01.01.2023)
Published in Application of clinical genetics (01.01.2023)
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PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country
Forero-Delgadillo, Jessica María, Cleves, Daniela, Ochoa, Vanessa, Londoño-Correa, Hernando, Restrepo, Jaime Manuel, Nastasi-Catanese, José Antonio, Pachajoa, Harry
Published in Application of clinical genetics (01.01.2020)
Published in Application of clinical genetics (01.01.2020)
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A Novel APOC2 Mutation in a Colombian Patient with Recurrent Hypertriglyceridemic Pancreatitis
Pinilla-Monsalve, Gabriel D, Lores, Juliana, Pachajoa, Harry, López-Ponce de León, Juan D, López, Alejandro, Rodríguez-Rojas, Lisa X, Nastasi-Catanese, José A
Published in Application of clinical genetics (01.01.2020)
Published in Application of clinical genetics (01.01.2020)
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