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1. Clinical and haplotypic variability of Slovenian USH2A patients homozygous for the c. 11864G>A nonsense mutation Andrej Zupan, Ana Fakin, Saba Battelino, Martina Jarc-Vidmar, Marko Hawlina, Crystel Bonnet, Christine Petit, Damjan Glavač, 2019, original scientific article Keywords: USH2A, haplotypic variability, homozygous mutation, usher syndrome, founder effect, haplotype analysis, high resolution melting analysis |
2. Double hyperautofluorescent rings in patients with USH2A-retinopathy Ana Fakin, Maja Šuštar Habjan, Jelka Brecelj, Crystel Bonnet, Christine Petit, Andrej Zupan, Damjan Glavač, Martina Jarc-Vidmar, Saba Battelino, Marko Hawlina, 2019, original scientific article Keywords: USH2A-retinopathy, double hyperautofluorescent rings, electrophysiology, USH2A, usher syndrome, retinitis pigmentosa, fundus autofluorescence, cone-rod dystrophy |