Keywords: central serous chorioretinopathy, genotype–phenotype correlation, collagen, CSC, COL4A3, COL4A4, CFH, rs1329428, TNFRSF10A, CDH5Full text (file, 1,04 MB) This document has more files! More...
Keywords: DRAM2, inherited retinal dystrophy, genetic spectrum, phenotype variability, genotype–phenotype correlation, fundus autofluorescence imaging, electrophysiologyFull text (file, 8,63 MB) This document has more files! More...
Keywords: hereditary angioedema, C1 inhibitor deficiency, genetic modifiers, clinical phenotype, genotype-phenotype correlation, genetic variant, SERPING1, CC2D2BFull text (file, 4,80 MB) This document has more files! More...