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Browsing by Subject "Diagnóstico Prenatal"

Browsing by Subject "Diagnóstico Prenatal"

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  • Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in COL1A2 
    Peláez Chomba, Melissa Sindy; Vásquez Gómez, Guillermo Raúl; Sullcahuamán Allende, Yasser Ciro; Mendoza Fernández, Julio Cesar; Purizaca Rosillo, Nelson David; Zevallos, Alejandra; Cruzate Cabrejos, Vicente Leandro (F1000 Research, 2023)
    Osteogenesis imperfecta is considered a rare genetic condition which is characterized by bone fragility. In 85% of cases, it is caused by mutations in COL1A1 and COL1A2 genes which are essential to produce type I collagen. ...
  • The evolution of imaging and portable imaging tools to aid tuberculosis diagnosis 
    Bigio, J.; Denkinger, C.M.; Kadam, R.; Kohli, M.; Sulis, G.; Ugarte Gil, Cesar Augusto; Yerlikaya, S.; Pai, M. (European Respiratory Society, 2023)
    Imaging has a long history as an aid to the diagnosis of TB. In recent years, the pace of technological development in the imaging of TB has been rapid, with the arrival of ultra-portable CXR and point-of-care ultrasound ...

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