eNauka - pregled
Pregled prema Autor Miletic, Aleksandra
Prikaz rezultata 1 do 15 od 15
| Godina | Naslov | Autor(i) | Tip rezultata | Mp-kat. |
|---|---|---|---|---|
| 2018 | A novel CTNNB1 mutation in a patient with teratoma and multiple malformations - expansion of the phenotypic spectrum and possible new gene for Currarino phenotype | Mijovic, Marija; Miletic, Aleksandra; Ruml-Stojanovic, Jelena; Peterlin, Borut; Maver, Ales; Borlja, Nikola; Dimitrijevic, Brankica; Lukic, M; Cuturilo, Goran | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2024 | Clinical utility of diagnostic NGS for detection CNV variants in genes associated with skeletal dysplasia | Mijovic, Marija; Cuturilo, Goran; Ruml-Stojanovic, Jelena; Miletic, Aleksandra; Bosankic, Brankica; Petrovic, Hristina | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2023 | Constitutional mismatch repair deficiency syndrome (CMMRD): the significance of customized surveillance protocol for Lynch syndrome-related tumors in relatives at risk-a case report | Bosankic, Brankica; Cuturilo, Goran; Petrovic, Hristina; Mijovic, Marija; Ruml-Stojanovic, Jelena; Miletic, Aleksandra | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2020 | Diversification of Serbian-French-English-Spanish Parallel Corpus ParCoLab with Spoken Language Data | Terzić, Dušica   ; Marjanović, Saša ; Stosic, Dejan; Miletic, Aleksandra | Naučni članak | Mp kategorija će biti prikazana naknadno. |
| 2024 | Dual molecular diagnosis in patients with skeletal dysplasia - data from tertiary genetic center | Mijovic, Marija; Cuturilo, Goran; Ruml-Stojanovic, Jelena; Miletic, Aleksandra; Bosankic, Brankica; Petrovic, Hristina; Vasic, Bojana; Vukasinovic, Nadja | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2019 | Exome sequencing in disclosing causes of unexpected death in child - single genetic center experience | Mijovic, Marija; Miletic, Aleksandra; Dimitrijevic, Brankica; Peterlin, Borut; Maver, Ales; Ruml-Stojanovic, Jelena; Zivanovic, M; Cuturilo, Goran | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2024 | Folk Songs of Montenegro -From the First Field Recordings of Miodrag A. Vasiljević to Published Collections | Drobni, Ivana; Miletic, Aleksandra | Naučni članak | 21M21 - Vodeći međunarodni časopis kategorije M21 |
| 2023 | Internal Skeletal Dysplasia Registry within the electronic database of Department of Clinical Genetics University Children's Hospital in Belgrade - basis for a personalised medicine in the future | Mijovic, Marija; Cuturilo, Goran; Ruml-Stojanovic, Jelena; Miletic, Aleksandra; Bosankic, Brankica; Petrovic, Hristina | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2022 | Multiple major anomalies and microcephaly predict the detection of pathogenic copy number variations in patients with moderate and severe global developmental delay/intellectual disability | Ruml-Stojanovic, Jelena; Mijovic, Marija; Miletic, Aleksandra; Bosankic, Brankica; Petrovic, Hristina; Cuturilo, Goran | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2019 | Novel mosaic CREBBP mutation in a patient with overlapping clinical features of Rubinstein-Taybi syndrome and Floating-Harbor syndrome | Ruml-Stojanovic, Jelena; Mijovic, Marija; Miletic, Aleksandra; Dimitrijevic, Brankica; Peterlin, Borut; Maver, Ales; Cuturilo, Goran | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2017 | ParCoLab: A Parallel Corpus for Serbian, French and English | Miletic, Aleksandra; Stosic, Dejan; Marjanović, Saša | Poglavlje u monografiji | Mp kategorija će biti prikazana naknadno. |
| 2019 | Phenotypic overlap between spondyloepimetaphyseal dysplasia with joint laxity type 2 and Morquio syndrome type A: case report | Mijovic, Marija; Miletic, Aleksandra; Janeski, Hristina; Dimitrijevic, Brankica; Ruml-Stojanovic, Jelena; Lukic, M; Cuturilo, Goran | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2020 | Skeletal dysplasia in the era of genomic testing: first experience of a single genetic outpatient clinic from Serbia | Mijovic, Marija; Ruml-Stojanovic, Jelena; Miletic, Aleksandra; Bosankic, Brankica; Janeski, Hristina; Peterlin, Borut; Maver, Ales; Cuturilo, Goran | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2019 | Three patients with pyridoxine-dependent epilepsy - psychological, ethical and professional issues in diagnostic approach as a proof of importance of pre and post-test genetic counseling | Mijovic, Marija; Miletic, Aleksandra; Dimitrijevic, Brankica; Ruml-Stojanovic, Jelena; Zivanovic, M; Cuturilo, Goran | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2022 | What are key parameters for obtaining the most likely clinical diagnosis from the wide phenotypic spectrum of skeletal dysplasia in patients with previously identified disease-causing gene variant | Mijovic, Marija; Bukva, Bojan; Ruml-Stojanovic, Jelena; Miletic, Aleksandra; Bosankic, Brankica; Petrovic, Hristina; Cuturilo, Goran | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |