Listar por tema "genetic screening"

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  • Identification of Main Genetic Causes Responsible for Non-Syndromic Hearing Loss in a Peruvian Population 
    Figueroa Ildefonso, Erick Gianpierre; Bademci, Guney; Rajabli, Farid; Cornejo-Olivas, Mario; Villanueva, Ruy Diego Chacon; Badillo-Carrillo, Rodolfo; Inca-Martinez, Miguel; Neyra, Karina Milla; Sineni, Claire; Tekin, Mustafa (MDPI, 2019)
    Hearing loss (HL) is a common sensory disorder affecting over 5% of the global population. The etiology underlying HL includes congenital and acquired causes; genetic factors are the main cause in over 50% of congenital ...
  • Neurogenetics in Peru: clinical, scientific and ethical perspectives 
    Cornejo-Olivas, M.; Espinoza Huertas, Keren Antonieta; Velit-Salazar, M.R.; Veliz-Otani, D.; Tirado-Hurtado, I.; Inca-Martinez, M.; Silva-Paredes, G.; Milla-Neyra, K.; Marca, V.; Ortega, O.; Mazzetti, P. (Springer, 2015)
    Neurogenetics, the science that studies the genetic basis of the development and function of the nervous system, is a discipline of recent development in Peru, an emerging Latin American country. Herein, we review the ...
  • Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study 
    García Castaño, A.; Pérez de Nanclares, G.; Madariaga, L.; Aguirre, M.; Chocron, S.; Madrid, A.; Lafita Tejedor, F.J.; Gil Campos, M.; Sánchez del Pozo, J.; Ruiz Cano, R.; Espino, M.; Gomez Vida, J.M.; Santos, F.; García Nieto, V.M.; Loza, R.; Rodríguez, L.M.; Hidalgo Barquero, E.; Printza, N.; Camacho, J.A.; Castaño, L.; Ariceta, G.; RenalTube Group (Springer, 2015)
    Molecular diagnosis is a useful diagnostic tool in primary nephrogenic diabetes insipidus (NDI), an inherited disease characterized by renal inability to concentrate urine. The AVPR2 and AQP2 genes were screened for mutations ...

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