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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,… Continue Reading
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 CFI… Continue Reading
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 the… Continue Reading
Peripapillary pachychoroid syndrome (PPS) is a newly described disease entity belonging to the spectrum of pachychoroid diseases. We report on a patient with PPS.
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 Nafplion… Continue Reading