1 - 2 / 2 1 |
1. Identification of potentially pathogenic variants for autism spectrum disorders using gene-burden analysis Nika Rihar, Danijela Krgović, Nadja Kokalj-Vokač, Špela Stangler Herodež, Minja Zorc, Peter Dovč, 2023, izvirni znanstveni članek Ključne besede: medicine, genetics, genetic tests, autism, autism spectrum disorder, protein structure, protein structure prediction, Slovenian people, computer software, polymerase chain reaction, pathogenesis, mutation |
2. The clinical spectrum and disease course of DRAM2 retinopathy Tjaša Krašovec, Marija Volk, Maja Šuštar Habjan, Marko Hawlina, Nataša Vidović Valentinčič, Ana Fakin, 2022, izvirni znanstveni članek Ključne besede: DRAM2, inherited retinal dystrophy, genetic spectrum, phenotype variability, genotype–phenotype correlation, fundus autofluorescence imaging, electrophysiology |