Autori: Dimitrijevic Brankica
Naslov | Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability (Article) |
Autori | Ruml-Stojanovic Jelena Miletic Aleksandra Peterlin Borut Maver Ales Mijovic Marija Borlja Nikola Dimitrijevic Brankica Soldatovic Ivan A Cuturilo Goran |
Info | JOURNAL OF CHILD NEUROLOGY, (2020), vol. 35 br. 2, str. 116-131 |
Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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Naslov | Phenotypic overlap between spondyloepimetaphyseal dysplasia with joint laxity type 2 and Morquio syndrome type A: case report (Meeting Abstract) |
Autori | Mijovic Marija Miletic Aleksandra Janeski Hristina Dimitrijevic Brankica Ruml-Stojanovic Jelena Lukic M Cuturilo Goran |
Info | EUROPEAN JOURNAL OF HUMAN GENETICS, (2019), vol. 27 br. , Suppl. 2, str. 1299-1300 |
Ispravka | Web of Science Elečas Rang časopisa Citati: Web of Science |
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Naslov | Novel mosaic CREBBP mutation in a patient with overlapping clinical features of Rubinstein-Taybi syndrome and Floating-Harbor syndrome (Meeting Abstract) |
Autori | Ruml-Stojanovic Jelena Mijovic Marija Miletic Aleksandra Dimitrijevic Brankica Peterlin Borut Maver Ales Cuturilo Goran |
Info | EUROPEAN JOURNAL OF HUMAN GENETICS, (2019), vol. 27 br. , Suppl. 1, str. 945-945 |
Ispravka | Web of Science Elečas Rang časopisa Citati: Web of Science |
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Naslov | 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 (Meeting Abstract) |
Autori | Mijovic Marija Miletic Aleksandra Dimitrijevic Brankica Ruml-Stojanovic Jelena Zivanovic M Cuturilo Goran |
Info | EUROPEAN JOURNAL OF HUMAN GENETICS, (2019), vol. 27 br. , Suppl. 1, str. 734-735 |
Ispravka | Web of Science Elečas Rang časopisa Citati: Web of Science |
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Naslov | Exome sequencing in disclosing causes of unexpected death in child - single genetic center experience (Meeting Abstract) |
Autori | Mijovic Marija Miletic Aleksandra Dimitrijevic Brankica Peterlin Borut Maver Ales Ruml-Stojanovic Jelena Zivanovic M Cuturilo Goran |
Info | EUROPEAN JOURNAL OF HUMAN GENETICS, (2019), vol. 27 br. , Suppl. 1, str. 164-164 |
Ispravka | Web of Science Elečas Rang časopisa Citati: Web of Science |
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Naslov | A novel CTNNB1 mutation in a patient with teratoma and multiple malformations - expansion of the phenotypic spectrum and possible new gene for Currarino phenotype (Meeting Abstract) |
Autori | Mijovic Marija Miletic Aleksandra Ruml-Stojanovic Jelena Peterlin Borut Maver Ales Borlja Nikola Dimitrijevic Brankica Lukic M Cuturilo Goran |
Info | EUROPEAN JOURNAL OF HUMAN GENETICS, (2018), vol. 26 br. , Suppl. S, str. 465-465 |
Ispravka | Web of Science Elečas Rang časopisa Citati: Web of Science |
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