Autori: Mijovic Marija
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 | Three case reports of patients with rare copy number variations in the recurrent 2q11.1-q11.2 region (Meeting Abstract) |
Autori | Perovic Dijana Maksimovic Nela S Damnjanovic Tatjana M Djuranovic Ana S Sarajlija Adrijan Mijovic Marija |
Info | EUROPEAN JOURNAL OF HUMAN GENETICS, (2023), vol. 31 br. , Suppl. 1, str. 267-268 |
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 |
Naslov | What 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 variant (Meeting Abstract) |
Autori | Mijovic Marija Bukva Bojan Ruml-Stojanovic Jelena Miletic Aleksandra Bosankic Brankica Petrovic Hristina Cuturilo Goran |
Info | EUROPEAN JOURNAL OF HUMAN GENETICS, (2022), vol. 30 br. SUPPL 1, Suppl. 1, str. 181-181 |
Ispravka | ISI/Web of Science Elečas Rang časopisa Citati: ISI/Web of Science |
Naslov | Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unit (Article) |
Autori | Miletic Aleksandra Ruml-Stojanovic Jelena Parezanovic Vojislav M Rsovac Snezana Drakulic Danijela D Soldatovic Ivan A Mijovic Marija Bosankic Brankica Petrovic Hristina Borlja Nikola Milivojevic Milena C Marjanovic Ana Marjanovic Ana Cuturilo Goran |
Info | EUROPEAN JOURNAL OF PEDIATRICS, (2021), vol. 180 br. 10, str. 3219-3227 |
Projekat | Ministry of Education, Science and Technological Development, Republic of Serbia [451-03-68/2020-14/200042] |
Ispravka | ISI/Web of Science Članak Elečas Rang časopisa Citati: ISI/Web of Science Scopus |