Št. zadetkov: 11
Magistrsko delo
Oznake:
slovenska književnost;humorna literatura;humor;pastorala;nova evangelizacija;katehizacija;humor in Cerkev;Čušin;Gregor;1970-;"Evangelij po Čušinu";"Zgodbe iz velike knjige in iz malega predala";
Magistrska naloga obravnava temo, ki se osredotoča na Gregorja Čušina, slovenskega literata, katehista in humorista. Čušinovo delo je raziskano skozi prizmo humorja v slovenski literaturi, njegovih vrst in vpliva na Cerkev, saj humor igra pomembno vlogo v slovenskem kulturnem in verskem prostoru. Ob ...
Leto:
2025
Vir:
Filozofska fakulteta (UL FF)
Magistrsko delo
Oznake:
bralno razumevanje;trening;model sodelovalno strateško branje;učenci z disleksijo;
Glavni cilj branja je razumevanje, to pa je v šoli pomembno predvsem z vidika samostojnega učenja. Številni učenci, še posebej pa tisti s specifičnimi učnimi težavami, med katerimi so tudi učenci z disleksijo, ne znajo ustrezno uporabljati strategij bralnega razumevanja, kar vpliva na njihov slabši ...
Leto:
2020
Vir:
Pedagoška fakulteta (UL PEF)
Izvirni znanstveni članek
Oznake:
retinitis pigmentosa;RP;vitamin A;CSNB;NBWD;congenital stationary night blindness;rhodopsin;RHO;sector RP;treatment;
The pathogenic variant p.G90D in RHO is believed to be responsible for a spectrum of phenotypes, including congenital stationary blindness (for the purpose of this study termed night blindness without degeneration; NBWD), Sector RP, Pericentral RP, and Classic RP. We present a correlation between th ...
Leto:
2023
Vir:
Repozitorij Univerze v Ljubljani (RUL)
Izvirni znanstveni članek
Oznake:
DRAM2;inherited retinal dystrophy;genetic spectrum;phenotype variability;genotype– phenotype correlation;fundus autofluorescence imaging;electrophysiology;
Pathogenic variants in DNA-damage regulated autophagy modulator 2 gene (DRAM2) cause a rare autosomal recessive retinal dystrophy and its disease course is not well understood. We present two Slovenian patients harboring a novel DRAM2 variant and a detailed review of all 23 other patients described ...
Leto:
2022
Vir:
Medicinska fakulteta (UL MF)
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
Kratki znanstveni prispevek
Oznake:
COQ2-related retinopathy;uveitis;rare disease;
Purpose: To describe an atypical presentation of COQ2-related retinopathy in identical twins withnephropathy, mimicking intermediate uveitis with cystoid macular oedema (CMO).Methods: Retrospective case report.Results: A 33-year-old man presented with bilateral vision worsening and suspected interme ...
Leto:
2026
Vir:
Digitalni repozitorij raziskovalnih organizacij Slovenije
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)
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
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)
Nigel Maxted,
Anne-Françoise Adam-Blondon,
Catherine Hazel Aquilar,
Ana Maria Barata,
Béla Bartha,
Riccardo Bocci,
Domenica De Paola,
Heli Susanna Fitzgerald,
Louis John Fresta,
Pietro Fusani,
Jelka Šuštar Vozlič
Pregledni znanstveni članek
Oznake:
crop wild relatives;ex situ;genebank, genetic reserves;in situ;landraces;on-farm conservation;integrated conservation;
Leto:
2025
Vir:
Kmetijski inštitut Slovenije (KIS)