Researchers

Results 1-20 of 137
Issue DateTitleAuthor(s)TypeМp-cat.
2026First Reported Use of Recombinant Parathyroid Hormone in Kenny–Caffey Syndrome Type 2: A Case Report and Literature ReviewMilošević Đorđević, Maja; Skakić, Anita  ; Anđelković, Marina  ; Delgado-Vega, Angelica Maria; Thonberg, Håkan; Klaassen, Kristel  ; Komazec, Jovana; Kecman, Bozica; Jocić, Nikola  ; Björck, Erik;
Lindstrand, Anna; Stojiljković, Maja  ;
Article
22M22
2025Phenylbutyric Acid Modulates Apoptosis and ER Stress-Related Gene Expression in Glycogen Storage Disease Type Ib In Vitro ModelParezanovic, Marina V  ; Stevanovic, Nina  ; Andjelkovic, Marina Z  ; Ugrin, Milena  ; Pavlovic, Sonja T  ; Stojiljkovic, Maja M  ; Skakic, Anita G  Article
22M22
2025PULMONARY IN VITRO MODEL SYSTEM ENABLES EXPLORATION OF INNOVATIVE TREATMENT STRATEGIES FOR RARE RESPIRATORY DISEASESStevanović, Nina  ; Skakić, Anita  ; Parezanović, Marina  ; Jasnić, Jovana  ; Spasovski, Vesna  ; Ugrin, Milena  ; Komazec, Jovana  ; Jocić, Nikola  ; Stojiljković, Maja  ; Andjelković, Marina  Conference Paper
Mp. category will be shown later
2025Advancing the IMGGE RD Biobank through BRIDGING-RD Project: Achieving full interoperability of genetic and phenotypic data to enhance participation in transnational research and innovation for human healthKomazec, Jovana  ; Anđelković, Marina  ; Klaassen, Kristel  ; Skakić, Anita  ; Ugrin, Milena  ; Pavlović, Sonja  ; Nordgren, A.; Lindstrand, A.; Kjellqvist, S.; Matić, Lj.;
Stojiljković, Maja  ;
Conference Paper
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2025Clinical and Genetic Profile of 35 Patients with Glycogen Storage Disease Type 1b: A Comparative Analysis Before and During SGLT2 Inhibitor TherapyDjordjevic-Milosevic, Maja; Skakic, Anita G  ; Kecman, Bozica; Stankovic, Sara S  ; Kovacevic, Ivona; Pavlovic, Sonja T  ; Stojiljkovic, Maja M  Article
21M21
2025ESTABLISHMENT OF AN IN VITRO INSULIN RESISTANCE MODEL IN HepG2 CELLS THROUGH GLUCOSE AND INSULIN COTREATMENTSpasovski, Vesna  ; Kitanović, Ivana; Grujić, Kristina; Komazec, Jovana  ; Anđelković, Marina  ; Skakić, Aita; Ugrin, Milena  ; Stevanović, Nina  ; Parezanović, Marina  ; Stojiljković, Maja  Conference Paper
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2025ESTABLISHING IN VITRO MODELS FOR GLYCOGEN STORAGE DISEASE TYPE IB: A PLATFORM FOR THERAPEUTIC INVESTIGATIONSJocić, Nikola  ; Parezanović, Marina  ; Stevanović, Nina  ; Andjelković, Marina  ; Ugrin, Milena  ; Spasovski, Vesna  ; Klaassen, Kristel  ; Komazec, Jovana  ; Stojiljković, Maja  ; Skakić, Anita  Conference Paper
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2025Genomic profiling, implications for genotype-based treatment of 131 patients with phenylketonuria and characterization of novel p.Pro416Leu PAH variantKlaassen, K  ; Kecman, B; Stankovic, S  ; Komazec, Jovana  ; Pavlovic, S  ; Stojiljkovic, Maja  ; Djordjevic, MArticle
21M21
2024WGS approach to identify potential genetic modifiers in Glycogen Storage Disease IbSkakić, Anita  ; Parezanović, Marina  ; Pavlović, Đorđe  ; Srevanović, N.; Anđelković, M.  ; Klaassen, Kristel  ; Ugrin, Marija  ; Komazec, Jovana  ; Spasovski, Vesna  ; Đorđević, M.;
Pavlović, S.  ; Stojiljković, M.  ;
Conference Paper
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2024Seven-Year Longitudinal Study: Clinical Evaluation of Knee Osteoarthritic Patients Treated with Mesenchymal Stem CellsSpasovski, Duško  ; Spasovski, Vesna  ; Baščarević, Zoran  ; Stojiljković, Maja  ; Anđelković, Marina  ; Pavlović, Sonja  Article
21M21
2024A NEW TOOL: VUS NOTIFIERStojiljković, Maja  Conference Paper
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2024Transcriptome profile of phenylalanine treated NT2-derived neurons – a step towards novel PKU model system PO-576Stanković, Sara  ; Lazić, Andrijana  ; Stevanović, Milena  ; Anđelković, Marina  ; Parezanović, Marina  ; Pavlović, Sonja  ; Stojiljković, Maja  ; Klaassen, Kristel  Conference Paper
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2024Characterization of 16 novel genetic variants in genes associated with paediatric epilepsy: implications for targeted therapeutic strategiesAnđelković, Marina  ; Klaassen, Kristel  ; Skakić, Anita  ; Marjanović, Irena  ; Kravljanac, Ružica  ; Đorđević, Maja  ; Vučetić Tadić, Biljana  ; Kecman, Božica; Pavlović, Sonja  ; Stojiljković, Maja  Conference Paper
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2024Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic StrategiesAnđelković, Marina  ; Klaassen, Kristel  ; Skakić, Anita  ; Marjanović, Irena  ; Kravljanac, Ružica  ; Đorđević, Maja  ; Vučetić-Tadić, Biljana  ; Kecman, Božica; Pavlović, Sonja  ; Stojiljković, Maja  Article
21M21
2024Genetic landscape of phenylketonuria in SerbiaKlaassen, Kristel  ; Sara, Stanković  ; Đorđević Milošević, Maja; Božica, Kecman; Anđelković, Marina  ; Skakić, Anita  ; Spasovski, Vesna  ; Ugrin, Milena  ; Komazec, Jovana  ; Parezanović, Marina  ;
Jocić, Nikola  ; Stevanović, Nina  ; Pavlović, Sonja  ; Stojiljković, Maja  ;
Conference Paper
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2024Transcriptome Profiling of Phenylalanine-Treated Human Neuronal Model: Spotlight on Neurite Impairment and Synaptic ConnectivityStankovic, Sara  ; Lazic, Andrijana  ; Parezanovic, Marina  ; Stevanovic, Milena J  ; Pavlovic, Sonja  ; Stojiljkovic, Maja  ; Klaassen, Kristel M  Article
21M21
2024CHARACTERIZATION OF 16 NOVEL GENETIC VARIANTS IN GENES ASSOCIATED WITH EPILEPSYAnđelković, Marina  ; Klaassen, Kristel  ; Skakić, Anita  ; Marjanović, Irena  ; Kravljanac, Ružica; Đorđević, Maja; Vučetić Tadić, Biljana; Kecman, Božica; Pavlović, Sonja  ; Stojiljković, Maja  Conference Paper
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2024Gene therapies for rare diseasesStojiljković, Maja  Conference Paper
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2024Molecular genetic basis of childhood epilepsy in Serbia: utility of clinical and whole exome sequencingAnđelković, M.  ; Klaassen, Kristel  ; Skakić, Anita  ; Marjanović, I.  ; Kravljanac, R.; Đorđević, M.; Vučetić Tadić, B.; Kecman B.; Pavlović, Sonja  ; Stojiljković, M.  Conference Paper
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2024Comparison of the ABC and ACMG systems for variant classificationHouge, Gunnar; Bratland, Eirik; Aukrust, Ingvild; Tveten, Kristian; Žukauskaitė, Gabrielė; Sansovic, Ivona; Brea-Fernández, Alejandro J; Mayer, Karin; Paakkola, Teija; McKenna, Caoimhe;
Wright, William; Keckarević-Marković, Milica  ; Lildballe, Dorte L; Konecny, Michal; Smol, Thomas; Alhopuro, Pia; Gouttenoire, Estelle Arnaud; Obeid, Katharina; Todorova, Albena; Jankovic, Milena ; Lubieniecka, Joanna M; Stojiljkovic, Maja  ; Buisine, Marie-Pierre; Haukanes, Bjørn Ivar; Lorans, Marie; Roomere, Hanno; Petit, François M; Haanpää, Maria K; Beneteau, Claire; Pérez, Belén; Plaseska-Karanfilska, Dijana; Rath, Matthias; Fuhrmann, Nico; Ferreira, Bibiana I; Stephanou, Coralea; Sjursen, Wenche; Maver, Aleš; Rouzier, Cécile; Chirita-Emandi, Adela; Gonçalves, João; Kuek, Wei Cheng David; Broly, Martin; Haer-Wigman, Lonneke; Thong, Meow-Keong; Tae, Sok-Kun; Hyblova, Michaela; den Dunnen, Johan T; Laner, Andreas;
Article
21M21