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Material Type: Artigo
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Event timing in human vision: Modulating factors and independent functionsArstila, Valtteri ; Georgescu, Alexandra L ; Pesonen, Henri ; Lunn, Daniel ; Noreika, Valdas ; Falter-Wagner, Christine M Baurès, RobinPloS one, 2020-08, Vol.15 (8), p.e0226122-e0226122 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencingWang, Xia ; Wang, Hui ; Sun, Vincent ; Tuan, Han-Fang ; Keser, Vafa ; Wang, Keqing ; Ren, Huanan ; Lopez, Irma ; Zaneveld, Jacques E ; Siddiqui, Sorath ; Bowles, Stephanie ; Khan, Ayesha ; Salvo, Jason ; Jacobson, Samuel G ; Iannaccone, Alessandro ; Wang, Feng ; Birch, David ; Heckenlively, John R ; Fishman, Gerald A ; Traboulsi, Elias I ; Li, Yumei ; Wheaton, Dianna ; Koenekoop, Robert K ; Chen, RuiJournal of medical genetics, 2013-10, Vol.50 (10), p.674-688 [Periódico revisado por pares]England: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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Diversity and Evolution of Frog Visual Opsins: Spectral Tuning and Adaptation to Distinct Light EnvironmentsSchott, Ryan K ; Fujita, Matthew K ; Streicher, Jeffrey W ; Gower, David J ; Thomas, Kate N ; Loew, Ellis R ; Bamba Kaya, Abraham G ; Bittencourt-Silva, Gabriela B ; Guillherme Becker, C ; Cisneros-Heredia, Diego ; Clulow, Simon ; Davila, Mateo ; Firneno, Thomas J ; Haddad, Célio F B ; Janssenswillen, Sunita ; Labisko, Jim ; Maddock, Simon T ; Mahony, Michael ; Martins, Renato A ; Michaels, Christopher J ; Mitchell, Nicola J ; Portik, Daniel M ; Prates, Ivan ; Roelants, Kim ; Roelke, Corey ; Tobi, Elie ; Woolfolk, Maya ; Bell, Rayna CMolecular biology and evolution, 2024-04, Vol.41 (4) [Periódico revisado por pares]UK: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridiaTarilonte, Maria ; Ramos, Patricia ; Moya, Jennifer ; Fernandez-Sanz, Guilermo ; Blanco-Kelly, Fiona ; Swafiri, Saoud Tahsin ; Villaverde, Cristina ; Romero, Raquel ; Tamayo, Alejandra ; Gener, Blanca ; Calvas, Patrick ; Ayuso, Carmen ; Corton, MartaJournal of medical genetics, 2022-05, Vol.59 (5), p.428-437 [Periódico revisado por pares]England: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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Partial visual loss disrupts the relationship between judged room size and sound source distanceKolarik, Andrew J. ; Moore, Brian C. J. ; Cirstea, Silvia ; Raman, Rajiv ; Gopalakrishnan, Sarika ; Pardhan, ShahinaExperimental brain research, 2022-01, Vol.240 (1), p.81-96 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Artigo
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A consumer-grade LCD monitor for precise visual stimulationZhang, Gong-Liang ; Li, Ai-Su ; Miao, Cheng-Guo ; He, Xun ; Zhang, Ming ; Zhang, YangBehavior Research Methods, 2018-08, Vol.50 (4), p.1496-1502 [Periódico revisado por pares]New York: Springer USTexto completo disponível |
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Material Type: Artigo
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Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mappingHarville, H M ; Held, S ; Diaz-Font, A ; Davis, E E ; Diplas, B H ; Lewis, R A ; Borochowitz, Z U ; Zhou, W ; Chaki, M ; MacDonald, J ; Kayserili, H ; Beales, P L ; Katsanis, N ; Otto, E ; Hildebrandt, FJournal of medical genetics, 2010-04, Vol.47 (4), p.262-267 [Periódico revisado por pares]England: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosade Bruijn, Suzanne E ; Verbakel, Sanne K ; de Vrieze, Erik ; Kremer, Hannie ; Cremers, Frans P M ; Hoyng, Carel B ; van den Born, L Ingeborgh ; Roosing, SusanneJournal of medical genetics, 2018-10, Vol.55 (10), p.705-712 [Periódico revisado por pares]England: BMJ Publishing Group LTDTexto completo disponível |
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Material Type: Artigo
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Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype–phenotype correlations and unexpected diagnostic revisionsZaneveld, Jacques ; Siddiqui, Sorath ; Li, Huajin ; Wang, Xia ; Wang, Hui ; Wang, Keqing ; Li, Hui ; Ren, Huanan ; Lopez, Irma ; Dorfman, Allison ; Khan, Ayesha ; Wang, Feng ; Salvo, Jason ; Gelowani, Violet ; Li, Yumei ; Sui, Ruifang ; Koenekoop, Robert ; Chen, RuiGenetics in medicine, 2015-04, Vol.17 (4), p.262-270 [Periódico revisado por pares]United States: Elsevier IncSem texto completo |
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Material Type: Artigo
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Distributed and Overlapping Representations of Faces and Objects in Ventral Temporal CortexHaxby, James V. ; Gobbini, M. Ida ; Furey, Maura L. ; Ishai, Alumit ; Schouten, Jennifer L. ; Pietrini, PietroScience (American Association for the Advancement of Science), 2001-09, Vol.293 (5539), p.2425-2430 [Periódico revisado por pares]Washington, DC: American Society for the Advancement of ScienceTexto completo disponível |