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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]
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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
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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 Web of Science   Članak   Elečas   Rang časopisa   Citati: Web of Science  
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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 Web of Science   Elečas   Rang časopisa  
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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
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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
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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
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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]
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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
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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
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