Istraživači
Klaassen Ljubičić, Kristel
Results 21-40 of 101
| Issue Date | Title | Author(s) | Type | Мp-cat. |
|---|---|---|---|---|
| 2025 | Genomic profiling and implications for genotype-based treatment of 131 patients with phenylketonuria: characterization of novel p.Pro416Leu PAH variant![]() | Kristel Klaassen
Vesna Spasovski; Skakic, Anita; Pavlovic, Sonja; Stojiljkovic, Maja; Djordjevic, Maja;
| Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2025 | Genomic profiling, implications for genotype-based treatment of 131 patients with phenylketonuria and characterization of novel p.Pro416Leu PAH variant | Klaassen, K | Naučni članak | 21M21 - Vodeći međunarodni časopis kategorije M21 |
| 2025 | Integration of federated learning to study of pathologies with intellectual disabilities within the European BETTER Consortium![]() | Barco-Armengol, Nidia; ...; Stojiljkovic, Maja M | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2024 | Transcriptome profile of phenylalanine treated NT2-derived neurons – a step towards novel PKU model system PO-576 | Stanković, Sara | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2024 | Case report: Rapidly progressive neurocognitive disorder with a fatal outcome in a patient with PU.1 mutated agammaglobulinemia![]() | Mišković, Rada | Naučni članak | 21M21 - Vodeći međunarodni časopis kategorije M21 |
| 2024 | CHARACTERIZATION OF 16 NOVEL GENETIC VARIANTS IN GENES ASSOCIATED WITH EPILEPSY | Anđelković, Marina | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2024 | WGS approach to identify potential genetic modifiers in Glycogen Storage Disease Ib![]() | Skakić, Anita | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2024 | Characterization of 16 novel genetic variants in genes associated with paediatric epilepsy: implications for targeted therapeutic strategies![]() | Anđelković, Marina | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2024 | Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic Strategies![]() | Anđelković, Marina | Naučni članak | 21M21 - Vodeći međunarodni časopis kategorije M21 |
| 2024 | MOLECULAR BASIS OF PHENYLKETONURIA IN SERBIAN PAEDIATRIC COHORT | Klaassen, Kristel | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2024 | Genetic landscape of phenylketonuria in Serbia![]() | Klaassen, Kristel | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2024 | Transcriptome profile of phenylalanine treated NT2-derived neurons – a step towards novel PKU model system![]() | Kristel Klaassen | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2024 | Transcriptome Profiling of Phenylalanine-Treated Human Neuronal Model: Spotlight on Neurite Impairment and Synaptic Connectivity | Stankovic, Sara | Naučni članak | 21M21 - Vodeći međunarodni časopis kategorije M21 |
| 2024 | INVESTIGATING THE GENETIC COMPLEXITY OF NEUTROPENIA IN PEDIATRIC PATIENTS WITH GLYCOGEN STORAGE DISEASE IB: A MODIFIER GENE PERSPECTIVE | Skakić, Anita | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2024 | Molecular genetic basis of childhood epilepsy in Serbia: utility of clinical and whole exome sequencing![]() | Anđelković, M. | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2023 | Application of CRISPR/cas9 technology for in vitro disease modelling in glycogen storage disease type IB![]() | Parezanović, Marina | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2023 | Covid-19 disease severity associated with vitamin d related genetic Variants | Kotur, Nikola | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2023 | The Role of Autophagy and Apoptosis in Affected Skin and Lungs in Patients with Systemic Sclerosis![]() | Spasovski, Vesna | Naučni članak | 21M21 - Vodeći međunarodni časopis kategorije M21 |
| 2023 | Improving the diagnostics of rare lung disorders using a uniquely designed pipeline for analysis of ngs data | Anđelković, Marina | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2023 | THE IMPACT OF NEXT-GENERATION SEQUENCING ON DIAGNOSIS AND TREATMENT OF RARE DISEASES | Stojiljković, Maja | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
