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 (Meeting Abstract) |
| 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 |
| Info | EUROPEAN JOURNAL OF HUMAN GENETICS, (2024), vol. 32 br. , Suppl. 2, str. 1390-1390 |
| Projekat | [P3-0326] |
| 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 | Brain malformations and seizures by impaired chaperonin function of TRiC (Article) |
| Autori | Kraft Florian ... Cuturilo Goran ... (broj koautora 87) |
| Info | SCIENCE, (2024), vol. 386 br. 6721, str. 516-525 |
| Projekat | Children's Discovery Institute, St Louis Children's Hospital Foundation; Children's Discovery Institute, St Louis Children's Hospital Foundation; Children's Discovery Institute, St Louis Children's Hospital Foundation; Italian Ministry of Health [RCR-2022-23682289, PNRR-MR1-2022-12376811]; Italian Ministry of Health; Italian Ministry of Health; Canadian Institutes of Health Research (CIHR) from the Canada Foundation for Innovation [FDN-167281, ERT-174211, OR2-189333, CFI-JELF 38412]; Canadian Institutes of Health Research (CIHR) from the Canada Foundation for Innovation; Canadian Institutes of Health Research (CIHR) from the Canada Foundation for Innovation; Canada Research Chairs program (Canada Research Chair in Neuromuscular Genomics and Health) [950-232279]; Canada Research Chairs program (Canada Research Chair in Neuromuscular Genomics and Health); Canada Research Chairs program (Canada Research Chair in Neuromuscular Genomics and Health); European Commission [101080249]; European Commission; European Commission; Canada Research Coordinating Committee New Frontiers in Research Fund [NFRFG-2022-00033]; Canada Research Coordinating Committee New Frontiers in Research Fund; Canada Research Coordinating Committee New Frontiers in Research Fund; Government of Canada Canada First Research Excellence Fund (CFREF) [CFREF-2022-00007]; Government of Canada Canada First Research Excellence Fund (CFREF); Government of Canada Canada First Research Excellence Fund (CFREF); CIHR Postdoctoral fellowship; CIHR Postdoctoral fellowship; CIHR Postdoctoral fellowship; German Research Foundation [WO 2385/2-1]; German Research Foundation; German Research Foundation; Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) [WE 1406/16-1, WE 1406/17-1]; Deutsche Forschungsgemeinschaft (DFG, German Research Foundation); Deutsche Forschungsgemeinschaft (DFG, German Research Foundation); DFG [418081722, 433158657, 499059538, INST 222/1458-1 FUGG, KU 1587/6-1, KU 1587/9-1, KU 1587 |
| Ispravka | ISI/Web of Science Članak Elečas Rang časopisa Citati: ISI/Web of Science |
| Naslov | A novel splice-site FHOD3 founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans - a cohort study (Meeting Abstract) |
| Autori | Vodnjov Nina Toplisek Janez Maver Ales Cuturilo Goran Jaklic Helena Teran Natasa Visnjar Tanja Pusenjak Marusa Skrjanec Hodzic Alenka Miljanovic Olivera Peterlin Borut Writzl Karin |
| Info | EUROPEAN JOURNAL OF HUMAN GENETICS, (2024), vol. 32 br. , Suppl. 2, str. 1390-1390 |
| Projekat | [P3-0326] |
| 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 | Speech Sounds Production, Narrative Skills, and Verbal Memory of Children with 22q11.2 Microdeletion (Article) |
| Autori | Rakonjac Marijana Cuturilo Goran Kovacevic-Grujicic Natasa R Simeunovic Ivana V Kostic Jovana N Stevanovic Milena J Drakulic Danijela D |
| Info | CHILDREN-BASEL, (2024), vol. 11 br. 4, str. - |
| Projekat | European Union's Horizon Europe Coordination and Support Actions Programme |
| Ispravka | ISI/Web of Science Članak 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 | 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 |
