1. 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... |
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3. 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... |
4. Association between sperm morphology and altered sperm microRNA expressionMaja Tomic, Luka Bolha, Jože Pižem, Helena Ban, Eda Vrtačnik-Bokal, Martin Štimpfel, 2022, original scientific article Keywords: sperm morphology, microRNA, male infertility, teratozoospermia Full text (file, 644,68 KB) This document has more files! More... |
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