Autori: Cuturilo Goran
| Naslov | A novel splice-site FHOD3 founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans-A cohort study (Article) |
| Autori | Vodnjov Nina Toplisek Janez Maver Ales Cuturilo Goran Jaklic Helena Teran Natasa Visnjar Tanja Skrjanec Pusenjak Marusa Hodzic Alenka Miljanovic Olivera Peterlin Borut Writzl Karin Mahdieh Nejat |
| Info | PLOS ONE, (2023), vol. 18 br. 12, str. - |
| Projekat | Slovenian Research and Innovation Agency [P3-0326] |
| Ispravka | ISI/Web of Science Članak 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 | Detection rate of 22q11.2 microdeletion using strict diagnostic criteria (Meeting Abstract) |
| Autori | Drakulic Danijela D Cuturilo Goran Jovanovic Ida V Krstic Aleksandar Milivojevic Milena C Stevanovic Milena J |
| Info | EUROPEAN JOURNAL OF HUMAN GENETICS, (2023), vol. 31 br. , Suppl. 1, str. 240-240 |
| Projekat | Ministry of Education, Science and Technological Development of the Republic of Serbia [173051, 451-03-68/2022-14/200042]; Serbian Academy of Sciences and Arts (MIKRO-NEURO) [01-2021] |
| 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 | Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome (Article) |
| Autori | Van der Spek Jet ... Cuturilo Goran ... (broj koautora 46) |
| Info | GENETICS IN MEDICINE, (2022), vol. 24 br. 6, str. 1283-1296 |
| Ispravka | ISI/Web of Science Članak Elečas Rang časopisa Citati: ISI/Web of Science Scopus |
| Naslov | The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers (Article) |
| Autori | Tylki-Szymanska Anna ... Cuturilo Goran Djordjevic Maja S ... (broj koautora 18) |
| Info | ORPHANET JOURNAL OF RARE DISEASES, (2022), vol. 17 br. 1, str. - |
| Projekat | BioMarin Pharmaceuticals Inc. |
| Ispravka | ISI/Web of Science Članak Elečas Rang časopisa Citati: ISI/Web of Science Scopus |
| 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 | Inherited variants in CHD3 demonstrate variable expressivity in Snijders Blok-Campeau syndrome (Meeting Abstract) |
| Autori | Van der Spek Jet ... Cuturilo Goran ... (broj koautora 33) |
| Info | EUROPEAN JOURNAL OF HUMAN GENETICS, (2022), vol. 30 br. SUPPL 1, Suppl. 1, str. 234-234 |
| 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 |
