Results 1-20 of 127
Issue DateTitleAuthor(s)TypeМp-cat.
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
23M23
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, J.; 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
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
2024A NEW TOOL: VUS NOTIFIERStojiljković, Maja  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 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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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 MArticle
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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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
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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2024INVESTIGATING THE GENETIC COMPLEXITY OF NEUTROPENIA IN PEDIATRIC PATIENTS WITH GLYCOGEN STORAGE DISEASE IB: A MODIFIER GENE PERSPECTIVESkakić, Anita  ; Parezanović, Marina  ; Pavlović, Đorđe  ; Stevanović, Nina  ; Anđelković, Marina  ; Klaassen, Kristel  ; Ugrin, Milena  ; Komazec, Jovana  ; Spasovski, Vesna  ; Đorđević, Maja;
Stojiljković, Maja  ;
Conference Paper
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2023Molecular basis of thalassemia syndromes in Serbia: an updateUgrin, Milena  ; Komazec, Jovana  ; Klaassen, Kristel  ; Skakić, Anita  ; Anđelković, Marina  ; Spasovski, Vesna  ; Stevanović, Nina  ; Parezanović, Marina  ; Stanković, Sara  ; Stojiljković, Maja  ;
Pavlović, Sonja  ;
Conference Paper
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2023Unique pipeline for the assessment of novel genetic variants leads to confirmation of PCD diagnosisStevanović, Nina  ; Anđelković, Marina  ; Skakić, Anita  ; Spasovski, Vesna  ; Stojiljković, Maja  ; Parezanović, Marina  ; Ugrin, Milena  ; Pavlović, Sonja  Conference Paper
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2023Molecular diagnosis of Fabry disease in patients with chronic renal failure of unknown etiologyParezanović, Marina  ; Stojiljković, Maja  ; Anđelković, Marina  ; Stevanović, Nina  ; Spasovski, Vesna  ; Ugrin, Milena  ; Komazec, Jovana  ; Tošić, Nataša  ; Pavlović, Sonja  ; Celic, Dejan  ;
Vučenović, Jelica; Skakić, Anita  ;
Conference Paper
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2023High-risk population screening for fabry disease in patients with chronic renal failure of unknown etiologyParezanović, Marina  ; Anđelković, Marina  ; Stevanović, Nina  ; Spasovski, Vesna  ; Ugrin, Milena  ; Komazec, Jovana  ; Klaassen, Kristel  ; Stanković, Sara  ; Pavlović, Sonja  ; Stojiljković, Maja  ;
Skakić, Anita  ;
Conference Paper
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2023Rare metabolic diseases in the genomics eraStojiljković, Maja  ; Klaassen, Kristel  ; Skakić, Anita  ; Anđelković, Marina  ; Komazec, Jovana  ; Ugrin, Milena  ; Spasovski, Vesna  ; Pavlović, Sonja  Conference Paper
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2023PHENYLBUTYRIC ACID REDUCES MOLECULAR MARKERS OF ER STRESS-INDUCED APOPTOSIS IN GLYCOGEN STORAGE DISEASE TYPE IB IN VITRO MODEL SYSTEMParezanović, Marina  ; Stevanović, Nina  ; Anđelković, Marina  ; Ugrin, Milena  ; Pavlović, Sonja  ; Stojiljković, Maja  ; Skakić, Anita  Conference Paper
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2023Investigation of the role of the glucose-6-phosphate translocase in the activation of autophagy and glycogen-selective autophagy in glycogen storage disease type IB patientsJocić, Nikola  ; Parezanović, Marina  ; Anđelković, Marina  ; Stevanović, Nina  ; Ugrin, Milena  ; Spasovski, Vesna  ; Klaassen, Kristel  ; Stanković, Sara  ; Komazec, Jovana  ; Pavlović, Sonja  ;
Stojiljković, Maja  ; Skakić, Anita  ;
Conference Paper
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2023Molecular basis of phenylketonuria in Serbia: an updateKlaassen, Kristel  ; Šinžar, Ksenija; Stanković, Sara  ; Đorđević-Milošević, Maja  ; Kecman, Božica; Anđelković, Marina  ; Skakić, Anita  ; Spasovski, Vesna  ; Ugrin, Milena  ; Komazec, Jovana  ;
Parezanović, Marina  ; Stevanović, Nina  ; Pavlović, Sonja  ; Stojiljković, Maja  ;
Conference Paper
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