Autori: Cuturilo Goran
| Naslov | Clinical Next Generation Sequencing Reveals An H3f3a Gene as a New Potential Gene Candidate for Microcephaly Associated with Severe Developmental Delay, Intellectual Disability and Growth Retardation (Article) |
| Autori | Maver Ales Cuturilo Goran Stojanovic Ruml J Peterlin Borut |
| Info | BALKAN JOURNAL OF MEDICAL GENETICS, (2019), vol. 22 br. 2, str. 65-68 |
| Projekat | Slovenian Research Agency - Slovenia [J3-8205, J3-9280, P3-0326] |
| Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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| Naslov | Rare missense TUBGCP5 gene variant in a patient with primary microcephaly (Article) |
| Autori | Maver Ales Cuturilo Goran Kovanda Anja Miletic Aleksandra Peterlin Borut |
| Info | EUROPEAN JOURNAL OF MEDICAL GENETICS, (2019), vol. 62 br. 12, str. - |
| Projekat | ARRS research programme [P3-0326, J3-8205, J3-5506] |
| Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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| Naslov | Phenotypic overlap between spondyloepimetaphyseal dysplasia with joint laxity type 2 and Morquio syndrome type A: case report (Meeting Abstract) |
| Autori | Mijovic Marija  Miletic Aleksandra Janeski Hristina Dimitrijevic Brankica Ruml-Stojanovic Jelena Lukic M Cuturilo Goran
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| Info | EUROPEAN JOURNAL OF HUMAN GENETICS, (2019), vol. 27 br. , Suppl. 2, str. 1299-1300 |
| Ispravka | Web of Science Elečas Rang časopisa Citati: Web of Science |
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| Naslov | Novel mosaic CREBBP mutation in a patient with overlapping clinical features of Rubinstein-Taybi syndrome and Floating-Harbor syndrome (Meeting Abstract) |
| Autori | Ruml-Stojanovic Jelena Mijovic Marija Miletic Aleksandra Dimitrijevic Brankica Peterlin Borut Maver Ales Cuturilo Goran
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| Info | EUROPEAN JOURNAL OF HUMAN GENETICS, (2019), vol. 27 br. , Suppl. 1, str. 945-945 |
| Ispravka | Web of Science Elečas Rang časopisa Citati: Web of Science |
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| Naslov | The patient with fragile site on chromosome 16 and four missed abortions : a case report (Meeting Abstract) |
| Autori | Komnenic-Radovanovic Milica Petrovic Bojana Dencic-Fekete Marija Jovanovic Jelica V Djordjevic Vesna R Cuturilo Goran Dimitrijevic B Miletic A Ruml-Stojanovic Jelena Radovanovic M Kontic-Vucinic Olivera |
| Info | EUROPEAN JOURNAL OF HUMAN GENETICS, (2019), vol. 27 br. , Suppl. 1, str. 875-876 |
| Ispravka | Web of Science Elečas Rang časopisa Citati: Web of Science |
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| Naslov | Three patients with pyridoxine-dependent epilepsy - psychological, ethical and professional issues in diagnostic approach as a proof of importance of pre and post-test genetic counseling (Meeting Abstract) |
| Autori | Mijovic Marija Miletic Aleksandra Dimitrijevic Brankica Ruml-Stojanovic Jelena Zivanovic M Cuturilo Goran
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| Info | EUROPEAN JOURNAL OF HUMAN GENETICS, (2019), vol. 27 br. , Suppl. 1, str. 734-735 |
| Ispravka | Web of Science Elečas Rang časopisa Citati: Web of Science |
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| Naslov | Exome sequencing in disclosing causes of unexpected death in child - single genetic center experience (Meeting Abstract) |
| Autori | Mijovic Marija Miletic Aleksandra Dimitrijevic Brankica Peterlin Borut Maver Ales Ruml-Stojanovic Jelena Zivanovic M Cuturilo Goran
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| Info | EUROPEAN JOURNAL OF HUMAN GENETICS, (2019), vol. 27 br. , Suppl. 1, str. 164-164 |
| Ispravka | Web of Science Elečas Rang časopisa Citati: Web of Science |
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| Naslov | Autistic Traits and Cognitive Dysfunctions in Children with Patogenic Copy Number Variants: a Pilot Study from Serbia (Meeting Abstract) |
| Autori | Mihaljevic Marina M Pejovic-Milovancevic Milica M Janeski Hristina Mandic-Maravic Vanja B Grujicic Roberto Drakulic Danijela D Stevanovic Milena J Cuturilo Goran
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| Info | EUROPEAN NEUROPSYCHOPHARMACOLOGY, (2019), vol. 29 br. , Suppl. 4, str. 1278-1279 |
| Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science |
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| Naslov | Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome (Article) |
| Autori | Capri Yline ... Cuturilo Goran ... (broj koautora 33) |
| Info | AMERICAN JOURNAL OF HUMAN GENETICS, (2019), vol. 104 br. 6, str. 1223-1232 |
| Projekat | ERN-ITHACA networking; E-Rare (NSEuroNet) [ERARE15-pp-063, 01GM1602B, 01GM1602A]; AIRC [IG21614]; Ministero della Salute; German Federal Ministry of Education and Research -BMBF (German Network for RASopathy Research "GeNeRARe") [01GM1519D, 01GM1902C, 01G |
| Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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| Naslov | A novel CTNNB1 mutation in a patient with teratoma and multiple malformations - expansion of the phenotypic spectrum and possible new gene for Currarino phenotype (Meeting Abstract) |
| Autori | Mijovic Marija Miletic Aleksandra Ruml-Stojanovic Jelena Peterlin Borut Maver Ales Borlja Nikola Dimitrijevic Brankica Lukic M Cuturilo Goran
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| Info | EUROPEAN JOURNAL OF HUMAN GENETICS, (2018), vol. 26 br. , Suppl. S, str. 465-465 |
| Ispravka | Web of Science Elečas Rang časopisa Citati: Web of Science |
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