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Browsing by Author Ruml-Stojanovic, Jelena
Showing results 1 to 12 of 12
| Issue Date | Title | Author(s) | Type | Мp-cat. |
|---|---|---|---|---|
| 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 | Conference Paper | Mp. category will be shown later |
| 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 | Conference Paper | Mp. category will be shown later |
| 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 | Conference Paper | Mp. category will be shown later |
| 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 | Conference Paper | Mp. category will be shown later |
| 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 | Conference Paper | Mp. category will be shown later |
| 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 | Conference Paper | Mp. category will be shown later |
| 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 | Conference Paper | Mp. category will be shown later |
| 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 | Conference Paper | Mp. category will be shown later |
| 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 | Conference Paper | Mp. category will be shown later |
| 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 | Conference Paper | Mp. category will be shown later |
| 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 | Conference Paper | Mp. category will be shown later |
| 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 | Conference Paper | Mp. category will be shown later |