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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 Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development (Article)
Autori Peng Xiaoxia  ...  Cuturilo Goran  ...  (broj koautora 49) 
Info JOURNAL OF CLINICAL INVESTIGATION, (2025), vol. 135 br. 22, str. -
Projekat STI 2030-Major Project [2021ZD0201704]; National Natural Science Foundation of China [82222025, 32271141, 82130043, 82330035, 82361138573, 82160219, 82401388]; National Key Research and Development Program of China [2021YFA0805200]; Hunan Provincial grants [2023RC1020, 2023SK2084, 2021SK1010, 2023SK2114, 2024JJ6545]; Jiangxi Province Key Research and Development Project [20232BBG70023]; Xingdian Project of Yunnan Province [XDYC-QNRC-2022-0267]; French Ministry of Health [PHRC-I 18-38]; Undergraduate Training Programs for Innovation and Entrepreneurship of CSU [X202410533687]
Ispravka ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science  
Naslov Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development (Article)
Autori Peng Xiaoxia  ...  Cuturilo Goran  ...  (broj koautora 49) 
Info JOURNAL OF CLINICAL INVESTIGATION, (2025), vol. 135 br. 22, str. -
Projekat STI 2030-Major Project [2021ZD0201704]; National Natural Science Foundation of China [82222025, 32271141, 82130043, 82330035, 82361138573, 82160219, 82401388]; National Key Research and Development Program of China [2021YFA0805200]; Hunan Provincial grants [2023RC1020, 2023SK2084, 2021SK1010, 2023SK2114, 2024JJ6545]; Jiangxi Province Key Research and Development Project [20232BBG70023, X202410533687]; Xingdian Project of Yunnan Province [XDYC-QN-RC-2022-0267]; French Ministry of Health [PHRC-I 18-38]; Undergraduate Training Programs for Innovation and Entrepreneurship of CSU [X202410533687]
Ispravka ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science  
Naslov Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability (Article)
Autori Kroll-Hermi Ariane  ...  Cuturilo Goran  ...  (broj koautora 89) 
Info AMERICAN JOURNAL OF HUMAN GENETICS, (2025), vol. 112 br. 12, str. 2943-2960
Ispravka ISI/Web of Science   Članak   Elečas   Rang časopisa  
Naslov Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants (Article; Early Access)
Autori Westenberger Ana  ...  Cuturilo Goran  ...  (broj koautora 40) 
Info MOVEMENT DISORDERS, (2025), vol. br. , str. -
Projekat Research Fund - Flanders (FWO) [1805021N]; Instituto de Salud Carlos III [FORT23/00034,PI21/00248,PI24/01083]; Solve-RD; The European Rare Diseases Research Alliance (ERDERA) [Ndegrees101156595]; The Dutch Research Council (ZonMW Vidi) [09150172110002]; Horizon 2020 - Research and innovation - European Union [SOLVE_RD, 779257]; Goldwasser-Emsens
Ispravka ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati:
Naslov MINDDS-connect: a federated data platform integrating biobanks for meta cohort building and analysis (Article; Early Access)
Autori Huremagic Benjamin  ...  Drakulic Danijela D  Cuturilo Goran  ...  (broj koautora 22) 
Info EUROPEAN JOURNAL OF HUMAN GENETICS, (2025), vol. br. , str. -
Projekat This article is based upon work from the COST Innovators Grant MINDDS-Connect [IG16210] supported by COST (European Cooperation in Science and Technology). KU Leuven grants, C1-C14/18/092 and C14/22/125 to JRV. Benjamin Huremagic was supported by a Collabo
Ispravka ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati:
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 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 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 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  
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