1. Sinteza heterogenih genomskih podatkov pri odkrivanju dednih dejavnikov za multifaktorske bolezniAleš Maver, 2016, doctoral dissertation Keywords: multifaktorske bolezni, omske študije, integracija podatkov, sekvenciranje nove generacije, multipla skleroza, Parkinsonova bolezen, molekularna genetika, disertacije Full text (file, 4,10 MB) |
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4. Clinical and histopathological features of gelsolin amyloidosis associated with a novel GSN variant p.Glu580LysMaja Potrč, Marija Volk, Matteo de Rosa, Jože Pižem, Nataša Teran, Helena Jaklič, Aleš Maver, Brigita Drnovšek-Olup, Michela Bollati, Katarina Vogelnik Žakelj, Alojzija Hočevar, Ana Gornik, Vladimir Pfeifer, Borut Peterlin, Marko Hawlina, Ana Fakin, 2021, original scientific article Keywords: gelsolin amyloidosis, Meretoja syndrome, GSN, cutis laxa, heart arrhythmia, lattice corneal dystrophy, optic neuropathy, optical coherence tomography Full text (file, 2,91 MB) This document has more files! More... |
5. Non-dilated left ventricular cardiomyopathy with arrhythmias is commonly caused by the nonsense variant DSP:c.3793G>T in Slovenian patientsNina Vodnjov, Anja Zupan Mežnar, Aleš Maver, Ajda Dolinšek, Borut Peterlin, Karin Writzl, 2024, original scientific article Keywords: arrhythmogenic non-dilated left ventricular cardiomyopathy, cardiogenetics, cardiology, DSP, DSP:c.3793G>T, founder Full text (file, 712,04 KB) This document has more files! More... |
6. Genomic biomarkers for male infertilityAlenka Hodžić, 2013, doctoral dissertation Keywords: male infertility, biomarkers, genetic, genes, genetic variability, associtaion study, circadian rhythms, clock cicardian regulator, ARNTL, transcriptome, gene expression, testis Full text (file, 2,34 MB) |
7. MicroRNA-target interaction regulatory network in Alzheimer’s diseaseAleksander Turk, Tanja Kunej, Borut Peterlin, 2021, original scientific article Keywords: Alzheimer’s disease, protein–protein interaction (PPI), biomarker, microRNA (miRNA), miRNA–target interaction (MTI) Full text (file, 1,38 MB) This document has more files! More... |
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9. Syndromic male subfertilityŠpela Mikec, Živa Kolenc, Borut Peterlin, Simon Horvat, Neža Pogorevc, Tanja Kunej, 2022, original scientific article Keywords: genome, male infertility, network medicine, phenome, syndrome, systems biology Full text (file, 3,20 MB) This document has more files! More... |
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