еНаука - преглед
Преглед према Аутор Brecelj, Jelka
Приказ резултата 1 до 4 од 4
| Година | Наслов | Аутор(и) | Тип резултата | Мп-кат. |
|---|---|---|---|---|
| 2022 | Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G > A pathogenic variant-case series | Petrovic, Pajic Sanja MI; Jarc-Vidmar, Martina; Fakin, Ana; Sustar-Habjan, Maja; Brecelj, Jelka; Volk, Marija; Maver, Ales; Peterlin, Borut; Hawlina, Marko | Article | 21M21 |
| 2018 | Genotype and phenotype characteristics of Leber hereditary optic neuropathy (LHON) patients in Slovenia | Petrovic, Pajic Sanja MI; Jarc-Vidmar, Martina; Fakin, Ana; Sustar, Maja; Brecelj, Jelka; Lapajne, Luka; Glavac, Damjan; Tajnik, Mojca; Peterlin, Borut; Volk, Marija;
Maver, Ales; Hawlina, Marko;
| Conference Paper | Mp. category will be shown later |
| 2023 | Leber Hereditary Optic Neuropathy in a Family of Carriers of MT-ND5 m.13042G>T (A236S) Novel Variant | Petrovic, Pajic Sanja MI; Habjan, Maja Sustar; Brecelj, Jelka; Fakin, Ana; Volk, Marija; Maver, Ales; Jezernik, Gregor; Peterlin, Borut; Glavac, Damjan; Hawlina, Marko;
Jarc-Vidmar, Martina;
| Article | 21M21 |
| 2020 | Phenotype and genotype spectrum of patients with a bilateral optic neuropathy in population of Slovenia | Petrovic, Pajic Sanja MI; Jarc-Vidmar, Martina; Fakin, Ana; Sustar, Maja; Brecelj, Jelka; Lapajne, Luka; Volk, Marija; Maver, Ales; Peterlin, Borut; Hawlina, Marko | Conference Paper | Mp. category will be shown later |