Researchers
Stojiljković, Maja
Results 21-40 of 153
| Issue Date | Title | Author(s) | Type | Мp-cat. |
|---|---|---|---|---|
| 2025 | Genomic profiling, implications for genotype-based treatment of 131 patients with phenylketonuria and characterization of novel p.Pro416Leu PAH variant | Klaassen, K | Article | 21M21 |
| 2025 | Integration of federated learning to study of pathologies with intellectual disabilities within the European BETTER Consortium![]() | Barco-Armengol, Nidia; ...; Stojiljkovic, Maja M | Conference Paper | Mp. category will be shown later |
| 2024 | WGS approach to identify potential genetic modifiers in Glycogen Storage Disease Ib![]() | Skakić, Anita | Conference Paper | Mp. category will be shown later |
| 2024 | Seven-Year Longitudinal Study: Clinical Evaluation of Knee Osteoarthritic Patients Treated with Mesenchymal Stem Cells![]() | Spasovski, Duško | Article | 21M21 |
| 2024 | A NEW TOOL: VUS NOTIFIER![]() | Stojiljković, Maja | Conference Paper | Mp. category will be shown later |
| 2024 | MOLECULAR BASIS OF PHENYLKETONURIA IN SERBIAN PAEDIATRIC COHORT![]() | Klaassen, Kristel | Conference Paper | Mp. category will be shown later |
| 2024 | Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic Strategies![]() | Anđelković, Marina | Article | 21M21 |
| 2024 | Characterization of 16 novel genetic variants in genes associated with paediatric epilepsy: implications for targeted therapeutic strategies![]() | Anđelković, Marina | Conference Paper | Mp. category will be shown later |
| 2024 | Transcriptome profile of phenylalanine treated NT2-derived neurons – a step towards novel PKU model system PO-576 | Stanković, Sara | Conference Paper | Mp. category will be shown later |
| 2024 | Genetic landscape of phenylketonuria in Serbia![]() | Klaassen, Kristel | Conference Paper | Mp. category will be shown later |
| 2024 | Transcriptome Profiling of Phenylalanine-Treated Human Neuronal Model: Spotlight on Neurite Impairment and Synaptic Connectivity | Stankovic, Sara | Article | 21M21 |
| 2024 | Gene therapies for rare diseases | Stojiljković, Maja | Conference Paper | Mp. category will be shown later |
| 2024 | CHARACTERIZATION OF 16 NOVEL GENETIC VARIANTS IN GENES ASSOCIATED WITH EPILEPSY | Anđelković, Marina | Conference Paper | Mp. category will be shown later |
| 2024 | Comparison of the ABC and ACMG systems for variant classification | Houge, 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
| Article | 21M21 |
| 2024 | Molecular genetic basis of childhood epilepsy in Serbia: utility of clinical and whole exome sequencing![]() | Anđelković, M. | Conference Paper | Mp. category will be shown later |
| 2024 | INVESTIGATING THE GENETIC COMPLEXITY OF NEUTROPENIA IN PEDIATRIC PATIENTS WITH GLYCOGEN STORAGE DISEASE IB: A MODIFIER GENE PERSPECTIVE | Skakić, Anita | Conference Paper | Mp. category will be shown later |
| 2023 | The Role of Autophagy and Apoptosis in Affected Skin and Lungs in Patients with Systemic Sclerosis![]() | Spasovski, Vesna | Article | 21M21 |
| 2023 | Application of CRISPR/cas9 technology for in vitro disease modelling in glycogen storage disease type IB![]() | Parezanović, Marina | Conference Paper | Mp. category will be shown later |
| 2023 | Functional characterization of novel variants in the dnai1 gene in a patient with primary ciliary dyskinesia![]() | Skakić, Anita | Conference Paper | Mp. category will be shown later |
| 2023 | Molecular diagnosis of Fabry disease in patients with chronic renal failure of unknown etiology![]() | Parezanović, Marina | Conference Paper | Mp. category will be shown later |
