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Št. zadetkov: 6
Diagnostics of genetic disorders with whole genome and mRNA sequencing
Gaber Bergant, Borut Peterlin
Doktorska disertacija
Oznake: genetics;genetic diagnostics;genome sequencing;next-generation sequencing;rare disease;RNA sequencing;
Despite the widespread use of exome sequencing (ES), over 60% of patients with suspected genetic diseases remain undiagnosed. Additionally, the precise genetic cause of many rare diseases remains obscure. This study addresses these two challenges using genome sequencing (GS) in patients with suspect ...
Leto: 2025 Vir: Biotehniška fakulteta (UL BF)
Creating the Slovenian genome database and browser as a source of comprehensive variation of the Slovenian population
Aleš Maver, Peter Juvan, Urška Kotnik, Luca Lovrečić, Gaber Bergant, Borut Peterlin
Izvirni znanstveni članek
Oznake: population genomic variation;whole genome sequencing;genome browser;Slovenian genome database;
The genomic data of Central European populations is underrepresented in the publicly available databases. We present the comprehensive genomic variation of the Slovenian population, based on the genomic sequencing of 9425 non-related individuals, i.e. more than 0.44% of the Slovenian population. Ove ...
Leto: 2025 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
GiOPARK Project
Valentino Rački, Gaber Bergant, Eliša Papić, Anja Kovanda, Mario Hero, Gloria Rožmarić, Nada Starčević-Čizmarević, Smiljana Ristić, Saša Ostojić, Miljenko Kapović, Aleš Maver, Borut Peterlin, Vladimira Vuletić
Izvirni znanstveni članek
Oznake: Parkinson’s disease;genetic testing;whole-exome sequencing;
Leto: 2024 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Enrichment of rare variants in nuclear-encoded mitochondrial metabolism genes in patients with early-onset or familial parkinson’s disease
Gaber Bergant, Vesna M. Van Midden, Polina Tsygankova, Dorian Laslo, Valentino Rački, Dejan Georgiev, Eliša Papić, Marija Branković, Milena Janković, Marina Svetel, Nataša Teran, Natasa Dragasević Misković, Igor N. Petrović, Aleš Maver, Ivana Novaković, Zvezdan Pirtošek, Martin Rakuša, Vladimira Vuletić, Borut Peterlin
Izvirni znanstveni članek
Oznake: mitochondrial metabolism;mitochondrial variants;mutation burden analysis;
Enrichment of rare variants in nuclear-encoded mitochondrial metabolism genes in patients with early-onset or familial parkinson’s disease
Leto: 2026 Vir: Digitalna knjižnica Univerze v Mariboru (DKUM)
Antifungal activity of conjugated metal organic frameworks
Tina Škorjanc, Safa Gaber, Martina Bergant Marušič, Dinesh Shetty, Matjaž Valant
Izvirni znanstveni članek
Oznake: interdisciplinary;multidisciplinary;hands-on learning/manipulatives;materials science;microbiology;applications of chemistry;antimicrobial activity;students;
Mechanochemical synthesis, purification, and basic characterization of a Cu(II)-based MOF are described as an experiment for upper-level undergraduate students. The chemistry/materials component of the laboratory course is combined with a microbiology module into a two-session multidisciplinary stud ...
Leto: 2026 Vir: Univerza v Novi Gorici (UNG)
Data for article "Antifungal activity of conjugated metal organic frameworks: a multidisciplinary undergraduate laboratory experiment"
Tina Škorjanc, Safa Gaber, Martina Bergant Marušič, Dinesh Shetty, Matjaž Valant
Raziskovalni podatki
Oznake: interdisciplinary;multidisciplinary;hands-on learning/manipulatives;materials science;microbiology;applications of chemistry;antimicrobial activity;students;
Mechanochemical synthesis, purification, and basic characterization of a Cu(II)-based MOF are described as an experiment for upper-level undergraduate students. The chemistry/materials component of the laboratory course is combined with a microbiology module into a two-session multidisciplinary stud ...
Leto: 2026 Vir: Univerza v Novi Gorici (UNG)
Št. zadetkov: 6
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