eNauka - pregled
Pregled prema Autor Mijovic, Marija
Prikaz rezultata 1 do 13 od 13
| 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. |
| 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. |
| 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. |
| 2016 | Improving the Diagnosis of Children with 22q11.2 Deletion Syndrome: A Single-center Experience from Serbia | Čuturilo, Goran   ; Drakulić, Danijela ; Jovanović, Ida ; Krstic, Aleksandar; Djukic, Milan; Škorić, Dejan ; Mijovic, Marija; Stefanovic, Igor; Milivojević, Milena ; Stevanović, Milena | Naučni članak | 23M23 - Rad u međ. časopisu |
| 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. |
| 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. |
| 2017 | The Impact of 22q11.2 Microdeletion on Cardiac Surgery Postoperative Outcome | Čuturilo, Goran ; Drakulić, Danijela ; Jovanović, Ida ; Ilić, Slobodan ; Kalanj, Jasna; Vulićević, Irena; Raus, Misela; Škorić, Dejan ; Mijovic, Marija; Međo, Biljana ;
Rsovac, Snezana; Stevanović, Milena
; | Naučni članak | 22M22 - Rad u istaknutom međ. časopisu |
| 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. |