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Cirugía y especialidades médicas afines(1)
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scopus(2)
COL1A1 novel splice variant in osteogenesis imperfecta and splicing variants review: A case report
ArticleAbstract: Background: Osteogenesis imperfecta (OI) is a rare heterogeneous genetic disorder commonly autosomalPalabras claves:COL1A1, collagen, ECUADOR, Osteogenesis imperfecta, splicingAutores:Dirani M., Vanessa Romero, Víctor CuencaFuentes:scopusUnderstanding parinaud’s syndrome
ReviewAbstract: Parinaud’s syndrome involves dysfunction of the structures of the dorsal midbrain. We investigated tPalabras claves:Collier sign, Midbrain, neurology, Parinaud, Pseudo argyll robertson pupilAutores:Anwar F., Cueva W., Eissa-Garces A., Juan Fernando Ortíz, Kaur M., Khurana M., Maria Paez, Parwani J., Ruxmohan S., Stephanie P. Fabara, Tamton H., Víctor CuencaFuentes:scopus