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Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials

artículo científico publicado en 2015

Circulating Autoantibodies in Age-Related Macular Degeneration Recognize Human Macular Tissue Antigens Implicated in Autophagy, Immunomodulation, and Protection from Oxidative Stress and Apoptosis

artículo científico publicado en 2015

Comparison of the molecular properties of retinitis pigmentosa P23H and N15S amino acid replacements in rhodopsin.

artículo científico publicado en 2019

Correction: Comparison of the molecular properties of retinitis pigmentosa P23H and N15S amino acid replacements in rhodopsin

artículo científico publicado en 2019

Identification of two novel mutations in families with X-linked ocular albinism

artículo científico publicado en 2007

Macular Pigment Optical Density and Measures of Macular Function: Test-Retest Variability, Cross-Sectional Correlations, and Findings from the Zeaxanthin Pilot Study of Response to Supplementation (ZEASTRESS-Pilot).

artículo científico publicado en 2016

Macular pigment optical density is related to cognitive function in older people

artículo científico publicado en 2014

Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease

artículo científico publicado en 2012

Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene

artículo científico publicado en 2012

Retinal phenotype of an X-linked pseudo-Usher syndrome in association with the G173R mutation in the RPGR gene

artículo científico publicado en 2008

Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects

artículo científico publicado en 2006