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Browsing by Author Estrada-Cuzcano, A.

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Showing results 1 to 6 of 6
Full TextIssue DateTitleAuthor(s)
2012BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl SyndromeEstrada-Cuzcano, A.; Koenekoop, R.K.; Senechal, A.; Baere, E.B. De; Ravel, T. de, et al
2012Mutations 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
2012Non-syndromic retinal ciliopathies: translating gene discovery into therapyEstrada-Cuzcano, A.; Roepman, R.; Cremers, F.P.; den Hollander, A.I.; Mans, D.A.
2011IQCB1 mutations in patients with leber congenital amaurosisEstrada-Cuzcano, A.; Koenekoop, R.K.; Coppieters, F.; Kohl, S.; Lopez, I., et al
2010Candidate 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
2009A 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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