Listar Artículos WOS por autor "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."

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Mutation screening and tissue expression patterns implicate SRY-box 14 (SOX14) in human eye and brain developmental anomalies

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 ...