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5. 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) |
6. 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, 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... |
7. Transcriptomic signatures for human male infertilityAlenka Hodžić, Aleš Maver, Branko Zorn, Danijel Petrovič, Tanja Kunej, Borut Peterlin, 2023, original scientific article Keywords: idiopathic male infertility, gene expresion, transcriptome, testis, spermatogenesis Full text (file, 1,60 MB) This document has more files! More... |
8. Integrative transcriptomic analysis in human and mouse model of anaphylaxis identifies gene signatures associated with cell movement, migration and neuroinflammatory signallingMatija Rijavec, Aleš Maver, Paul J. Turner, Keli Hočevar, Mitja Košnik, Amnah Yamani, Simon P. Hogan, Adnan Custovic, Borut Peterlin, Peter Korošec, 2022, original scientific article Keywords: transcriptome analysis, cell movement, migration, neuroinflammatory signaling, lipid activating nuclear receptors signaling, anaphylaxis, diagnosis, mast cells, basophils, neutrophils Full text (file, 4,89 MB) This document has more files! More... |
9. Identifikacija in funkcijska karakterizacija patoloških genetskih različic za monogenske bolezni človeka z analizo RNA-prepisovMatevž Jus, 2022, master's thesis Keywords: genetika, monogenske bolezni, patološke različice, RNA-prepisi, cDNA, PCR, sekvenciranje nove generacije, funkcijska karakterizacija Full text (file, 3,36 MB) |