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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 ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
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 ISI/Web of Science   Elečas   Rang časopisa   Citati: ISI/Web of Science  
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 ISI/Web of Science   Elečas   Rang časopisa   Citati: ISI/Web of Science  
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 ISI/Web of Science   Elečas   Rang časopisa   Citati: ISI/Web of Science  
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 ISI/Web of Science   Elečas   Rang časopisa   Citati: ISI/Web of Science  
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 ISI/Web of Science   Elečas   Rang časopisa   Citati: ISI/Web of Science  
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