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Browsing by Author Estrada-Cuzcano, A.
Showing results 1 to 6 of 6
| Full Text | Issue Date | Title | Author(s) | | 2012 | BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome | Estrada-Cuzcano, A.; Koenekoop, R.K.; Senechal, A.; Baere, E.B. De; Ravel, T. de, et al |
| 2012 | Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. | Estrada-Cuzcano, A.; Neveling, K.; Kohl, S.; Banin, E.; Rotenstreich, Y., et al |
| 2012 | Non-syndromic retinal ciliopathies: translating gene discovery into therapy | Estrada-Cuzcano, A.; Roepman, R.; Cremers, F.P.; den Hollander, A.I.; Mans, D.A. |
| 2011 | IQCB1 mutations in patients with leber congenital amaurosis | Estrada-Cuzcano, A.; Koenekoop, R.K.; Coppieters, F.; Kohl, S.; Lopez, I., et al |
| 2010 | Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. | Otto, E.A.; Hurd, T.W.; Airik, R.; Chaki, M.; Zhou, W., et al |
| 2009 | A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. | Khanna, H.; Davis, E.E.; Murga-Zamalloa, C.A.; Estrada-Cuzcano, A.; Lopez, I., et al |
Showing results 1 to 6 of 6
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