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2. Clinical and haplotypic variability of Slovenian USH2A patients homozygous for the c. 11864G>A nonsense mutationAndrej Zupan, Ana Fakin, Saba Battelino, Martina Jarc-Vidmar, Marko Hawlina, Crystel Bonnet, Christine Petit, Damjan Glavač, 2019, original scientific article Keywords: USH2A, haplotypic variability, homozygous mutation, usher syndrome, founder effect, haplotype analysis, high resolution melting analysis Full text (file, 3,60 MB) This document has more files! More... |
3. Large-scale transcriptomics-driven approach revealed overexpression of CRNDE as a poor survival prognosis biomarker in glioblastomaMaxim Sorokin, Mikhail Raevskiy, Alja Zottel, Neja Šamec, Marija Skoblar Vidmar, Alenka Matjašič, Andrej Zupan, Jernej Mlakar, Maria Suntsova, Denis V. Kuzmin, Anton A. Buzdin, Ivana Jovchevska, 2021, original scientific article Keywords: glioblastoma, noncoding RNA, long-term survival, CRNDE, RNA sequencing Full text (file, 4,17 MB) This document has more files! More... |
4. Mutations in collagen genes in the context of an isolated populationAndrej Zupan, Alenka Matjašič, Gašper Grubelnik, Velibor Tasić, Ana Momirovska, 2020, original scientific article Keywords: Alport syndrome, benign familial hematuria, isolated population, digenic inheritance, Galičnik Full text (file, 12,80 MB) This document has more files! More... |
5. Genetska struktura Slovencev, kot jo razkrivajo polimorfizmi kromosoma Y in mitohondrijske DNAAndrej Zupan, 2014, doctoral dissertation Keywords: slovenska populacija, mitohondrijska DNA, mtDNA, kromosom Y, nerekombinantni del kromosoma Y, populacijska genetika, genetski označevalci, polimorfizmi, mikrosateliti, haploskupina, haplotipi, bialelni označevalci, mrežna analiza, disertacije Full text (file, 3,23 MB) |
6. Associations of single-nucleotide polymorphisms in Slovenian patients with acute central serous chorioretinopathyPeter Kiraly, Andrej Zupan, Alenka Matjašič, Polona Jaki Mekjavić, 2022, original scientific article Keywords: central serous chorioretinopathy, genotype–phenotype correlation, collagen, CSC, COL4A3, COL4A4, CFH, rs1329428, TNFRSF10A, CDH5 Full text (file, 1,04 MB) This document has more files! More... |
7. Double hyperautofluorescent rings in patients with USH2A-retinopathyAna Fakin, Maja Šuštar Habjan, Jelka Brecelj, Crystel Bonnet, Christine Petit, Andrej Zupan, Damjan Glavač, Martina Jarc-Vidmar, Saba Battelino, Marko Hawlina, 2019, original scientific article Keywords: USH2A-retinopathy, double hyperautofluorescent rings, electrophysiology, USH2A, usher syndrome, retinitis pigmentosa, fundus autofluorescence, cone-rod dystrophy Full text (file, 5,19 MB) This document has more files! More... |
8. Subcutaneous chondromyxoid fibroma with a novel PNISR::GRM1 fusion—report of a primary soft tissue tumour without connection to an underlying boneAndrej Zupan, Vladka Salapura, Daja Šekoranja, Jože Pižem, 2023, original scientific article Keywords: chondromyxoid fibroma, extraosseous tumour, GRM1, MEF2A::ARHGAP36, PNISR::GRM1, subcutaneous tumour Full text (file, 998,25 KB) This document has more files! More... |
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