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Št. zadetkov: 6
Vpliv različnih koncentracij etanola na tvorbo fosfatidiletanola in fosfatidne kisline v humanih nevroblastomskih SH-SY5Y celicah
Martina Jarc-Vidmar
Strokovni članek
Oznake: alkohol;etanol;fiziologija;živčne celice;tkivne kulture;celične membrane;
Leto: 1995 Vir: dLib.si Digitalna knjižnica Slovenije
Duanov retrakcijski sindrom - pregled rezultatov kirurškega zdravljenja zadnjih 10 let
Martina Jarc-Vidmar, Ivana Gradašević-Topčić, Dragica Kosec
Kratki znanstveni prispevek
Oznake:
Background: The surgery in Duanećs retraction syndrome is indicated only in patients where eyes are not straight in the primary position and the patient has to adopt an abnormal head posture to achieve fusion. Patients and methods:12 patients (2 male, 10 female) were operated for Duanećs retraction ...
Leto: 2010 Vir: dLib.si Digitalna knjižnica Slovenije
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)
Peripapillary retinal nerve fibre layer thinning in patients with X- linked retinoschisis
Peter Kiraly, Ana Uršula Gavrić, Felix F. Reichel, Johannes Birtel, Luca Mautone, Yevgeniya Atiskova, Philipp Herrmann, Martina Jarc-Vidmar, Marko Hawlina, Susan Downes
Izvirni znanstveni članek
Oznake: retinoschisis;X-linked retinoschisis;
Aims: To assess peripapillary retinal nerve fibre layer (pRNFL) thickness in patients with X-linked retinoschisis (XLRS), as pRNFL thinning may limit functional improvements in gene therapy trials. Methods: This retrospective multicentre study included 49 eyes from 25 patients diagnosed with XLRS. D ...
Leto: 2024 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
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
Št. zadetkov: 6
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