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Results: 1-3 |
Results: 3
Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement
Authors: Estrada-Cuzcano, Alejandro Neveling, Kornelia Kohl, Susanne Banin, Eyal
Citation: Estrada-cuzcano, Alejandro et al., Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 102-109
Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa
Authors: Bandah-Rozenfeld, Dikla Collin, Rob W.J. Banin, Eyal Ingeborgh van den Born, L. den Hollander, Anneke I.
Citation: Bandah-rozenfeld, Dikla et al., Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 199-208
A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews
Authors: Zelinger, Lina Banin, Eyal Obolensky, Alexey Mizrahi-Meissonnier, Liliana Sharon, Dror
Citation: Zelinger, Lina et al., A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews, American journal of human genetics (Online) AJHG , 88(2), 2011, pp. 207-215
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