Pronađeno: 1-10 / 21 radova

Autori: Ruml-Stojanovic Jelena

>> Filter: Samo Article i Review

Naslov A Novel 4.2 kb deletion of the 3′UTR of RUNX2 Gene Causes Cleidocranial Dysplasia: Further Delineation of the Role of yhe 3′UTR (Article)
Autori Mijovic Marija  Cuturilo Goran  Ruml-Stojanovic Jelena  Brankovic Marija  Miletic A  Bosankic Brankica  Dedovic Maja  Perovic D  Maksimovic N  Damnjanovic Tatjana M 
Info BALKAN JOURNAL OF MEDICAL GENETICS, (2025), vol. 28 br. 2, str. 107-112
Ispravka ISI/Web of Science   Članak   Elečas   Rang časopisa  
Naslov Diagnostic challenges in skeletal dysplasia: a clinical overview based on a 10-year retrospective study of single genetic department (Meeting Abstract)
Autori Mijovic Marija  Cuturilo Goran  Ruml-Stojanovic Jelena  Miletic Aleksandra  Bosankic Brankica  Dedovic Maja  Brankovic Marija 
Info EUROPEAN JOURNAL OF HUMAN GENETICS, (2025), vol. 33 br. , Suppl. 1, str. 668-668
Ispravka ISI/Web of Science   Elečas   Rang časopisa  
Naslov The coexistence of APC and FH germline variants: a case report of cooccurrence of two hereditary cancer predisposition syndromes in a single patient (Meeting Abstract)
Autori Bosankic Brankica  Cuturilo Goran  Mijovic Marija  Ruml-Stojanovic Jelena  Miletic Aleksandra  Dedovic Maja  Brankovic Marija 
Info EUROPEAN JOURNAL OF HUMAN GENETICS, (2025), vol. 33 br. , Suppl. 1, str. 563-563
Ispravka ISI/Web of Science   Elečas   Rang časopisa  
Naslov Clinical utility of diagnostic NGS for detection CNV variants in genes associated with skeletal dysplasia (Meeting Abstract)
Autori Mijovic Marija  Cuturilo Goran  Ruml-Stojanovic Jelena  Miletic Aleksandra  Bosankic Brankica  Petrovic Hristina 
Info EUROPEAN JOURNAL OF HUMAN GENETICS, (2024), vol. 32 br. , Suppl. 2, str. 1373-1373
Ispravka ISI/Web of Science   Elečas   Rang časopisa  
Naslov Clinical utility of diagnostic NGS for detection CNV variants in genes associated with skeletal dysplasia (Meeting Abstract)
Autori Mijovic Marija  Cuturilo Goran  Ruml-Stojanovic Jelena  Miletic Aleksandra  Bosankic Brankica  Petrovic Hristina 
Info EUROPEAN JOURNAL OF HUMAN GENETICS, (2024), vol. 32 br. , Suppl. 2, str. 1373-1373
Ispravka ISI/Web of Science   Elečas   Rang časopisa  
Naslov Dual molecular diagnosis in patients with skeletal dysplasia - data from tertiary genetic center (Meeting Abstract)
Autori Mijovic Marija  Cuturilo Goran  Ruml-Stojanovic Jelena  Miletic Aleksandra  Bosankic Brankica  Petrovic Hristina  Vasic Bojana  Vukasinovic Nadja 
Info EUROPEAN JOURNAL OF HUMAN GENETICS, (2024), vol. 32 br. , Suppl. 1, str. 412-413
Ispravka ISI/Web of Science   Elečas   Rang časopisa  
Naslov 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 (Meeting Abstract)
Autori Mijovic Marija  Cuturilo Goran  Ruml-Stojanovic Jelena  Miletic Aleksandra  Bosankic Brankica  Petrovic Hristina 
Info EUROPEAN JOURNAL OF HUMAN GENETICS, (2023), vol. 31 br. , Suppl. 1, str. 401-402
Ispravka ISI/Web of Science   Elečas   Rang časopisa  
Naslov Constitutional mismatch repair deficiency syndrome (CMMRD): the significance of customized surveillance protocol for Lynch syndrome-related tumors in relatives at risk-a case report (Meeting Abstract)
Autori Bosankic Brankica  Cuturilo Goran  Petrovic Hristina  Mijovic Marija  Ruml-Stojanovic Jelena  Miletic Aleksandra 
Info EUROPEAN JOURNAL OF HUMAN GENETICS, (2023), vol. 31 br. , Suppl. 1, str. 265-266
Ispravka ISI/Web of Science   Elečas   Rang časopisa  
Naslov 22q11.2 microdeletion is the most common genomic abnormality in Serbian newborns with critical congenital heart disease and could be rapidly detected by Multiplex ligation probe amplification analysis (Meeting Abstract)
Autori Miletic Aleksandra  Cuturilo Goran  Ruml-Stojanovic Jelena  Drakulic Danijela D  Mijovic Marija  Bosankic Brankica  Petrovic Hristina  Stevanovic Milena J 
Info EUROPEAN JOURNAL OF HUMAN GENETICS, (2023), vol. 31 br. , Suppl. 1, str. 140-140
Projekat Ministry of Education, Science and Technological Development of the Republic of Serbia [451-03-68/2020-14/200042]; Serbian Academy of Sciences and Arts
Ispravka ISI/Web of Science   Elečas   Rang časopisa  
Naslov Multiple major anomalies and microcephaly predict the detection of pathogenic copy number variations in patients with moderate and severe global developmental delay/intellectual disability (Meeting Abstract)
Autori Ruml-Stojanovic Jelena  Mijovic Marija  Miletic Aleksandra  Bosankic Brankica  Petrovic Hristina  Cuturilo Goran 
Info EUROPEAN JOURNAL OF HUMAN GENETICS, (2022), vol. 30 br. SUPPL 1, Suppl. 1, str. 239-239
Ispravka ISI/Web of Science   Elečas   Rang časopisa   Citati: ISI/Web of Science  
Ispis zapisa u formatu:TXT | BibTeX