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Št. zadetkov: 10
Mediji in smrt
Martina Fakin, Vlado Kotnik
Diplomsko delo
Oznake: smrt;telo;tabuizacija;Zahod;mediji;tabloidi;spektakel;poročanje o smrti;zaključna dela;
Leto: 2017 Vir: Fakulteta za humanistične študije (UP FHŠ)
Evropsko sodišče v Luksemburgu (pristojnost, delo in problemi)
Martina Fakin, Ernest Petrič
Magistrsko delo
Oznake: Sodišče Evropske unije;Evropska unija;sodna praksa Sodišča- Evropske unije;varovanje človekovih pravic;ničnostna tožba;
Evropsko sodišče v Luksemburgu (pogosteje poimenovano z nazivom Sodišče Evropske unije) je bilo ustanovljeno leta 1952. Opravlja naloge v sklopu sodne prakse ter skrbi za enotno razlago in uporabo prava Evropske unije v državah članicah. Magistrsko delo z uporabo deskriptivne, zgodovinske, analitičn ...
Leto: 2020 Vir: Evropska pravna fakulteta v Novi Gorici (EVRO-PF)
Various clinical presentations of uveitis associated with durvalumab treatment
Nika Vrabič, Ana Fakin, Polona Jaki, Urška Janžič, Martina Vrankar, Nataša Vidovič-Valentinčič
Pregledni znanstveni članek
Oznake: očesne bolezni;uveitis;onkologija;vnetje očesa;
Leto: 2022 Vir: Onkološki inštitut Ljubljana (OI)
Natural history of Stargardt disease
Jana Sajovic, Andrej Meglič, Ana Fakin, Jelka Brecelj, Maja Šuštar, Marko Hawlina, Martina Jarc-Vidmar
Izvirni znanstveni članek
Oznake: long-term follow-up;STGD1;ERG groups;fishman stages;DDAF area;genotype-phenotype correlations;
Long-term natural history studies are important in rare disease research. This study aimed to assess electrophysiological and fundus autofluorescence (FAF) progression rate in 18 genetically confirmed Stargardt disease (STGD1) patients with a minimum follow-up of 10 years. Age at the first and last ...
Leto: 2023 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Stargardt-like clinical characteristics and disease course associated with variants in the WDR19 gene
Jana Sajovic, Andrej Meglič, Marija Volk, Aleš Maver, Martina Jarc-Vidmar, Marko Hawlina, Ana Fakin
Izvirni znanstveni članek
Oznake: WDR19;IFT144;Stargardt disease;Stargardt-like disease;fundus flavimaculaus;ABCA4;phenocopy;
Variants in WDR19 (IFT144) have been implicated as another possible cause of Stargardt disease. The purpose of this study was to compare longitudinal multimodal imaging of a WDR19-Stargardt patient, harboring p.(Ser485Ile) and a novel c.(3183+1_3184-1)_(3261+1_3262-1)del variant, with 43 ABCA4-Starg ...
Leto: 2023 Vir: Medicinska fakulteta (UL MF)
Clinical and haplotypic variability of Slovenian USH2A patients homozygous for the c. 11864G>A nonsense mutation
Andrej Zupan, Ana Fakin, Saba Battelino, Martina Jarc-Vidmar, Marko Hawlina, Crystel Bonnet, Christine Petit, Damjan Glavač
Izvirni znanstveni članek
Oznake: USH2A;haplotypic variability;homozygous mutation;
Purpose: to determine a detailed clinical and haplotypic variability of the Slovenian USH2A patients with homozygous c.11864G>A (p.Trp3955Ter) nonsense mutation and to develop sensitive, accurate and rapid screening test. Methods: Ten unrelated homozygous patients with detailed ophthalmological exam ...
Leto: 2019 Vir: Medicinska fakulteta (UL MF)
Double hyperautofluorescent rings in patients with USH2A-retinopathy
Ana Fakin, Maja Šuštar, Jelka Brecelj, Crystel Bonnet, Christine Petit, Andrej Zupan, Damjan Glavač, Martina Jarc-Vidmar, Saba Battelino, Marko Hawlina
Izvirni znanstveni članek
Oznake: USH2A-retinopathy;double hyperautofluorescent rings;electrophysiology;
USH2A mutation is the most common cause of retinitis pigmentosa, with or without hearing impairment. Patients most commonly exhibit hyperautofluorescent ring on fundus autofluorescence imaging (FAF) and rod-cone dystrophy on electrophysiology. A detailed study of three USH2A patients with a rare pat ...
Leto: 2019 Vir: Medicinska fakulteta (UL MF)
Atypical Leber Hereditary Optic Neuropathy (LHON) associated with a novel MT-CYB:m.15309T>C(Ile188Thr) variant
Sanja Petrović Pajić, Ana Fakin, Martina Jarc-Vidmar, Maja Šuštar, Lucija Malinar, Kasja Pavlovic, Nina Krako Jakovljevic, Marija Volk, Aleš Maver, Gregor Jezernik, Damjan Glavač, Borut Peterlin, Marko Hawlina
Izvirni znanstveni članek
Oznake: LHON;gene;electrophysiology;retinal segmentation;VA improvement;mitochondrial disfunction;proteomic analysis;
Background: The study presents a detailed examination and follow-up of a Slovenian patient with an Leber Hereditary Optic Neuropathy (LHON)-like phenotype and bilateral optic neuropathy in whom genetic analysis identified a novel variant MT-CYB:m.15309T>C (Ile188Thr). Methods: We provide detailed an ...
Leto: 2025 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Discovery of PHB1 as a novel candidate gene in dominant optic atrophy
Marija Volk, Aleš Maver, Lucija Malinar, Sanja Petrović Pajić, Urška Dragin Jerman, Rok Romih, Marko Hawlina, Borut Peterlin, Martina Jarc-Vidmar, Nuša Trošt, Tanja Višnjar, Ana Fakin, Lea Kovač, Maja Šuštar Habjan
Izvirni znanstveni članek
Oznake: PHB1;candidate genes;dominant optic atrophy;mitochondrial dysfunction;
Hereditary optic neuropathies comprise a genetically heterogeneous group of disorders caused by pathogenic variants in mitochondrial and nuclear genes. Despite increasing diagnostic yields, many patients remain without a molecular diagnosis. We report a novel candidate heterozygous variant in the PH ...
Leto: 2026 Vir: Repozitorij Univerze v Ljubljani (RUL)
Spolno vedenje slovenskih srednješolcev v letu 2004
Bojana Pinter, Fani Čeh, Ivan Verdenik, Mojca Grebenc, Danilo Maurič, Ljiljana Pavičević, Alojzija Anderle, Martina Bučar, Veselin Šučur, Lidija Margić, Andreja Kumer-Lakner, Nives Rožič-Vičič, Janka Palancsai-Šiftar, Gabrijela Simetinger, Cvetka Skušek-Fakin, Alenka Zagode-Krenčič, Dragoslav Mugoša, Marjeta Podlipnik, Helena Meden-Vrtovec
Izvirni znanstveni članek
Oznake:
Background In order the aim to evaluate the risk-taking behaviour, a representative study on sexual behaviour of secondary-school students in Slovenia was performed. Methods In the spring of 2004, 2380 1st and 3rd grade students from 48 randomly selected secondary schools in Slovenia anonymously com ...
Leto: 2006 Vir: dLib.si Digitalna knjižnica Slovenije
Št. zadetkov: 10
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