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48. Double hyperautofluorescent rings in patients with USH2A-retinopathyAna Fakin, Maja Šuštar Habjan, Jelka Brecelj, Crystel Bonnet, Christine Petit, Andrej Zupan, Damjan Glavač, Martina Jarc-Vidmar, Saba Battelino, Marko Hawlina, 2019, izvirni znanstveni članek Ključne besede: USH2A-retinopathy, double hyperautofluorescent rings, electrophysiology, USH2A, usher syndrome, retinitis pigmentosa, fundus autofluorescence, cone-rod dystrophy Celotno besedilo (datoteka, 5,19 MB) Gradivo ima več datotek! Več... |
49. The clinical spectrum and disease course of DRAM2 retinopathyTjaša Krašovec, Marija Volk, Maja Šuštar Habjan, Marko Hawlina, Nataša Vidović Valentinčič, Ana Fakin, 2022, izvirni znanstveni članek Ključne besede: DRAM2, inherited retinal dystrophy, genetic spectrum, phenotype variability, genotype–phenotype correlation, fundus autofluorescence imaging, electrophysiology Celotno besedilo (datoteka, 8,63 MB) Gradivo ima več datotek! Več... |
50. Correlation between the serum concentration of vitamin A and disease severity in patients carrying p.G90D in RHO, the most frequent gene associated with dominant retinitis pigmentosaTjaša Krašovec, Nina Kobal, Maja Šuštar Habjan, Marija Volk, Marko Hawlina, Ana Fakin, 2023, izvirni znanstveni članek Ključne besede: retinitis pigmentosa, RP, vitamin A, CSNB, NBWD, congenital stationary night blindness, rhodopsin, RHO, sector RP, treatment Celotno besedilo (datoteka, 3,94 MB) Gradivo ima več datotek! Več... |