1. Clinical and haplotypic variability of Slovenian USH2A patients homozygous for the c. 11864G>A nonsense mutationAndrej 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 Full text (file, 3,60 MB) This document has more files! More... |
2. Clinical and histopathological features of gelsolin amyloidosis associated with a novel GSN variant p.Glu580LysMaja Potrč, Marija Volk, Matteo de Rosa, Jože Pižem, Nataša Teran, Helena Jaklič, Aleš Maver, Brigita Drnovšek-Olup, Michela Bollati, Katarina Vogelnik, Alojzija Hočevar, Ana Gornik, Vladimir Pfeifer, Borut Peterlin, Marko Hawlina, Ana Fakin, 2021, original scientific article Keywords: gelsolin amyloidosis, Meretoja syndrome, GSN, cutis laxa, heart arrhythmia, lattice corneal dystrophy, optic neuropathy, optical coherence tomography Full text (file, 2,91 MB) This document has more files! More... |
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4. Uspešnost določanja barvnih odtenkov zob pri ljudeh z različnimi motnjami barvne prepoznaveBoštjan Pohlen, 2016, doctoral dissertation Keywords: okulistika, zobna protetika, zobozdravstvo, okvare barvnega vida, obarvanost proteze, zaznavanje barv, barva, odstopanja med opazovalci, zob Full text (file, 1,80 MB) |
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6. Vzgoja in opredelitev človeških limbalnih epitelijskih matičnih celicZala Lužnik, 2017, doctoral dissertation Keywords: okulistika, citologija, epitelij roženice, roženični limbus, matične celice, celične kulture, dendritske celice, prilagojena gojišča Full text (file, 4,98 MB) |
7. The role of vitamin A in retinal diseasesJana Sajovic, Andrej Meglič, Damjan Glavač, Špela Markelj, Marko Hawlina, Ana Fakin, 2022, review article Keywords: vitamin A, retinal diseases, ABCA4, visual cycle, RHO, RDH5, RDH12, treatment Full text (file, 2,88 MB) This document has more files! More... |
8. Human anterior lens capsule epithelial cells contractionSofija Andjelić, Gregor Zupančič, Darko Perovšek, Marko Hawlina, 2011, original scientific article Keywords: acetylcholine, cataract, cell contraction, Fura-2, intracellular calcium, lens epithelial cells, mechanical stimulation Full text (outside link) |
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10. 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, original scientific article Keywords: USH2A-retinopathy, double hyperautofluorescent rings, electrophysiology, USH2A, usher syndrome, retinitis pigmentosa, fundus autofluorescence, cone-rod dystrophy Full text (file, 5,19 MB) This document has more files! More... |