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 Pigmento...

por Krašovec, Tjaša, Kobal, Nina, Šuštar Habjan, Maja, Volk, Marija, Hawlina, Marko, Fakin, Ana
Publicado 2023

Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene

por Kobal, Nina, Krašovec, Tjaša, Šuštar, Maja, Volk, Marija, Peterlin, Borut, Hawlina, Marko, Fakin, Ana
Publicado 2021

The Clinical Spectrum and Disease Course of DRAM2 Retinopathy

por Krašovec, Tjaša, Volk, Marija, Šuštar Habjan, Maja, Hawlina, Marko, Vidović Valentinčič, Nataša, Fakin, Ana
Publicado 2022

Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency

por Krasovec, Tjasa, Sikonja, Jaka, Zerjav Tansek, Mojca, Debeljak, Marusa, Ilovar, Sasa, Trebusak Podkrajsek, Katarina, Bertok, Sara, Tesovnik, Tine, Kovac, Jernej, Suput Omladic, Jasna, Hartmann, Michaela F., Wudy, Stefan A., Avbelj Stefanija, Magdalena, Battelino, Tadej, Kotnik, Primoz, Groselj, Urh
Publicado 2022