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128. 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) |
129. 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... |
130. 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... |