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A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration
Through whole-genome sequencing of 2,230 Icelanders, we detected a rare nonsynonymous SNP (minor allele frequency = 0.55%) in the C3 gene encoding a p.Lys155Gln substitution in complement factor 3,Expand
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A functional variant in the CFI gene confers a high risk of age-related macular degeneration
Up to half of the heritability of age-related macular degeneration (AMD) is explained by common variants. Here, we report the identification of a rare, highly penetrant missense mutation in CFIExpand
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[Second opinion in retinal imaging].
With the use of digital imaging systems and the possibilities of data exchange, the second opinion is becoming increasingly more important in retinal imaging. For a meaningful application, technicalExpand
Liquefaction Risk Assessment by the Use of Seismic Techniques – The Test Area of Nafplion City, Peloponnesus, Greece
Combined seismic surveys of P and S waves (seismic reflection, refraction, modelling, MASW and crosshole investigations) with geotechnical borehole testing effectively evaluated the land where theExpand
[Bilateral edema in the papillomacular bundle].
Peripapillary pachychoroid syndrome (PPS) is a newly described disease entity belonging to the spectrum of pachychoroid diseases. We report on a patient with PPS.
LIQUEFACTION RISK ASSESSMENT BY THE USE OF GEOPHYSICAL TECHNIQUES: THE TEST AREA OF NAFPLION CITY, GREECE
An efficient and cost effective site characterization, with regard to the seismic hazard and liquefaction risk assessment, was accomplished with the aid of geophysics in the area, where the NafplionExpand