English
español
Navegación por Autor Wilkie, Susan E.
Mostrando resultados 1 a 6 de 6
| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| closedAccess |  | dic-2001 | A Novel Keratocan Mutation Causing Autosomal Recessive Cornea Plana | Lehmann, Ordan J.; El-Ashry, Mohamed F.; Ebenezer, Neil D.; Ocaka, Louise; Francis, Peter J.; Wilkie, Susan E.; Patel, Reshma J.; Ficker, Linda; Jordan, Tim; Khaw, Peng T.; Bhattacharya, Shom Shanker CSIC ORCID | artículo |
| closedAccess | | mar-2006 | A study of the nuclear trafficking of the splicing factor protein PRPF31 linked to autosomal dominant retinitis pigmentosa (ADRP) | Wilkie, Susan E.; Bhattacharya, Shom Shanker CSIC ORCID; Hunt, David M. | artículo |
| closedAccess | | ago-2002 | Characterisation of two genes for guanylate cyclase activator protein (GCAP1 and GCAP2) in the Japanese pufferfish, Fugu rubripes | Wilkie, Susan E.; Bhattacharya, Shom Shanker CSIC ORCID; Hunt, David M. | artículo |
| closedAccess |  | 18-abr-2008 | Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31 | Wilkie, Susan E.; Václavík, Veronika; Wu, Huimin; Bujakowska, Kinga; Chakarova, Christina; Bhattacharya, Shom Shanker CSIC ORCID; Warren, Martin J.; Hunt, David M. | artículo |
| closedAccess |  | 1-dic-2002 | Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31 | Deery, Evelyne C.; Vithana, Eranga N.; Newbold, Richard J.; Gallon, Victoria A.; Bhattacharya, Shom Shanker CSIC ORCID; Warren, Martin J.; Hunt, David M.; Wilkie, Susan E. | artículo |
| closedAccess |  | 2004 | Dominant cone and cone-rod dystrophies: functional analysis of mutations in retGC1 and GCAP1 | Hunt, David M.; Wilkie, Susan E.; Newbold, Richard J.; Deery, Evelyne C.; Warren, Martin J.; Bhattacharya, Shom Shanker CSIC ORCID; Zhang, Kang | artículo |
