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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 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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