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Other documents (8)
Andrej Zupan, Ana Fakin, Saba Battelino, Martina Jarc-Vidmar, Marko Hawlina, Crystel Bonnet, Christine Petit, Damjan Glavač:
Clinical and haplotypic variability of Slovenian USH2A patients homozygous for the c. 11864G>A nonsense mutation
Maja Potrč, Marija Volk, Matteo de Rosa, Jože Pižem, Nataša Teran, Helena Jaklič, Aleš Maver, Brigita Drnovšek-Olup, Michela Bollati, Katarina Vogelnik Žakelj, Alojzija Hočevar, Ana Gornik, Vladimir Pfeifer, Borut Peterlin, Marko Hawlina, Ana Fakin:
Clinical and histopathological features of gelsolin amyloidosis associated with a novel GSN variant p.Glu580Lys
Tjaša Krašovec, Nina Kobal:
Dejavniki, ki vplivajo na klinično sliko bolnikov s patogeno različico p.G90D gena za rodopsin
Nika Vrabič, Ana Fakin, Manca Tekavčič Pompe:
Spectrum and frequencies of extraocular features reported in CEP290-associated ciliopathy
Jana Sajovic, Andrej Meglič, Damjan Glavač, Špela Markelj, Marko Hawlina, Ana Fakin:
The role of vitamin A in retinal diseases
Ana Fakin, Maja Šuštar Habjan, Jelka Brecelj, Crystel Bonnet, Christine Petit, Andrej Zupan, Damjan Glavač, Martina Jarc-Vidmar, Saba Battelino, Marko Hawlina:
Double hyperautofluorescent rings in patients with USH2A-retinopathy
Tjaša Krašovec, Marija Volk, Maja Šuštar Habjan, Marko Hawlina, Nataša Vidović Valentinčič, Ana Fakin:
The clinical spectrum and disease course of DRAM2 retinopathy
Tjaša Krašovec, Nina Kobal, Maja Šuštar Habjan, Marija Volk, Marko Hawlina, Ana Fakin:
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 pigmentosa