Keywords: chromatin organization, differentiation, Samp1, Emery-Dreifuss muscular dystrophy, nuclear envelope proteinsFull text (file, 3,51 MB)
Keywords: USH2A-retinopathy, double hyperautofluorescent rings, electrophysiology, USH2A, usher syndrome, retinitis pigmentosa, fundus autofluorescence, cone-rod dystrophyFull text (file, 5,19 MB) This document has more files! More...
Keywords: gelsolin amyloidosis, Meretoja syndrome, GSN, cutis laxa, heart arrhythmia, lattice corneal dystrophy, optic neuropathy, optical coherence tomographyFull text (file, 2,91 MB) This document has more files! More...
Keywords: Duchenne muscular dystrophy, cell therapy, induced myogenic progenitor cells, induced pluripotent stem cells, gene editingFull text (file, 6,71 MB)
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...