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Browsing by Author Mijovic, Marija

Showing results 1 to 10 of 10
Issue DateTitleAuthor(s)TypeМ-cat.
2018A novel CTNNB1 mutation in a patient with teratoma and multiple malformations - expansion of the phenotypic spectrum and possible new gene for Currarino phenotypeMijovic, Marija; Miletic, Aleksandra; Ruml-Stojanovic, Jelena; Peterlin, Borut; Maver, Ales; Borlja, Nikola; Dimitrijevic, Brankica; Lukic, M; Cuturilo, GoranConference Paper
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2019Exome sequencing in disclosing causes of unexpected death in child - single genetic center experienceMijovic, Marija; Miletic, Aleksandra; Dimitrijevic, Brankica; Peterlin, Borut; Maver, Ales; Ruml-Stojanovic, Jelena; Zivanovic, M; Cuturilo, GoranConference Paper
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2016Improving the Diagnosis of Children with 22q11.2 Deletion Syndrome: A Single-center Experience from SerbiaČuturilo, Goran  ; Drakulić, Danijela  ; Jovanović, Ida ; Krstic, Aleksandar; Djukic, Milan; Škorić, Dejan  ; Mijovic, Marija; Stefanovic, Igor; Milivojević, Milena  ; Stevanović, Milena  Article
23M23
2022Multiple major anomalies and microcephaly predict the detection of pathogenic copy number variations in patients with moderate and severe global developmental delay/intellectual disabilityRuml-Stojanovic, Jelena; Mijovic, Marija; Miletic, Aleksandra; Bosankic, Brankica; Petrovic, Hristina; Cuturilo, GoranConference Paper
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2019Novel mosaic CREBBP mutation in a patient with overlapping clinical features of Rubinstein-Taybi syndrome and Floating-Harbor syndromeRuml-Stojanovic, Jelena; Mijovic, Marija; Miletic, Aleksandra; Dimitrijevic, Brankica; Peterlin, Borut; Maver, Ales; Cuturilo, GoranConference Paper
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2019Phenotypic overlap between spondyloepimetaphyseal dysplasia with joint laxity type 2 and Morquio syndrome type A: case reportMijovic, Marija; Miletic, Aleksandra; Janeski, Hristina; Dimitrijevic, Brankica; Ruml-Stojanovic, Jelena; Lukic, M; Cuturilo, GoranConference Paper
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2020Skeletal dysplasia in the era of genomic testing: first experience of a single genetic outpatient clinic from SerbiaMijovic, Marija; Ruml-Stojanovic, Jelena; Miletic, Aleksandra; Bosankic, Brankica; Janeski, Hristina; Peterlin, Borut; Maver, Ales; Cuturilo, GoranConference Paper
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2017The Impact of 22q11.2 Microdeletion on Cardiac Surgery Postoperative OutcomeČuturilo, Goran  ; Drakulić, Danijela  ; Jovanović, Ida ; Ilić, Slobodan  ; Kalanj, Jasna; Vulićević, Irena; Raus, Misela; Škorić, Dejan  ; Mijovic, Marija; Međo, Biljana  ;
Rsovac, Snezana; Stevanović, Milena  ;
Article
22M22
2019Three patients with pyridoxine-dependent epilepsy - psychological, ethical and professional issues in diagnostic approach as a proof of importance of pre and post-test genetic counselingMijovic, Marija; Miletic, Aleksandra; Dimitrijevic, Brankica; Ruml-Stojanovic, Jelena; Zivanovic, M; Cuturilo, GoranConference Paper
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2022What 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 variantMijovic, Marija; Bukva, Bojan; Ruml-Stojanovic, Jelena; Miletic, Aleksandra; Bosankic, Brankica; Petrovic, Hristina; Cuturilo, GoranConference Paper
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