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El Repositorio Institucional de la Universidad Mayor, tiene como objetivo publicar, en formato digital, todos los objetos derivados de su producción científica, académica, cultural y artística. En palabras simples es una vitrina que pone en valor su patrimonio documental.
Valdivia, L. E. [Univ Mayor, Santiago, Chile]; Holt, R. J.; Díaz, D. Gold; Chassaing, N.; Wyatt, A. W.; Plaisancie, J.; Bourgeois, D.; Vincent-Delorme, C.; Osborne, R.; Bax, D. A.; Santos, C.; Broadgate, S.; Cooper-Charles, L.; Allen, L. E.; McMullan, D.; Wilson, S. W.; Gerrelli, D.; Calvas, P.; Ragge, N. K.(NATURE PUBLISHING GROUP, 2019)
Anophthalmia, microphthalmia and coloboma (AMC) are developmental eye anomalies which occur in approximately 3 in 10,000 births. They are a genetically heterogeneous group of conditions, with over 300 genes having been ...
In affected members of a consanguineous family, a syndrome, which is concurrence of set of medical signs, is often observed and commonly assumed to have arisen from pleiotropy, i.e., the phenomenon of a single gene variant ...
Court, Felipe A. [Univ Mayor, Ctr Integrat Biol, Fac Sci, Santiago, Chile]; González, David; Rebolledo, Daniela L.; Correa, Lina M.; Cerpa, Waldo; Lipson, Kenneth E.; van Zundert, Brigitte; Brandan, Enrique(OXFORD UNIV PRESS, 2018)
Amyotrophic lateral sclerosis (ALS) is a devastating adult-onset progressive neurodegenerative disease characterized by upper and lower motoneuron degeneration. A total of 20% of familial ALS (fALS) cases are explained by ...