Autori: Cuturilo Goran
Naslov | Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects (Article) |
Autori | Loges Niki T ... Cuturilo Goran ... (broj koautora 27) |
Info | AMERICAN JOURNAL OF HUMAN GENETICS, (2018), vol. 103 br. 6, str. 995-1008 |
Projekat | Deutsche Forschungsgemeinschaft (DFG) [OM6/7, OM6/8, OM6/10, CRC1140 KIDGEM, KFO 326, OL450/1, HJ7/1-1]; IZKF Muenster [Om2/009/12, Om/015/16]; European Union seventh FP [305404]; "Innovative Medical Research'' of the University of Muenster Medical School |
Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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Naslov | Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care (Article) |
Autori | Ivanovski Ivan P ![]() ![]() |
Info | GENETICS IN MEDICINE, (2018), vol. 20 br. 9, str. 965-975 |
Projekat | Telethon Italy [14131, GTB12001]; Associazione Italiana Mowat Wilson ONLUS (AIMW) [GTB12001] |
Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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Naslov | PITX2 deficiency and associated human disease: insights from the zebrafish model (Article) |
Autori | Hendee Kathryn E Sorokina Elena A Muheisen Sanaa S Reis Linda M Tyler Rebecca C Markovic Vujica D Cuturilo Goran Link Brian A Semina Elena V |
Info | HUMAN MOLECULAR GENETICS, (2018), vol. 27 br. 10, str. 1675-1695 |
Projekat | National Institutes of Health (NIH) - USA [EY015518]; Children's Research Institute Foundation at Children's Hospital of Wisconsin; NEIUnited States Department of Health & Hum |
Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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Naslov | Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice (Article) |
Autori | Tumiene B Maver Ales Writzl Karin Hodzic A Cuturilo Goran Kuzmanic-Samija Radenka Culic V Peterlin Borut |
Info | CLINICAL GENETICS, (2018), vol. 93 br. 5, str. 1057-1062 |
Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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Naslov | Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases (Article) |
Autori | Bergant Gaber Maver Ales Lovrecic Luca Cuturilo Goran Hodzic Alenka Peterlin Borut |
Info | GENETICS IN MEDICINE, (2018), vol. 20 br. 3, str. 303-312 |
Projekat | Slovenian Research Agency [P3-0326] |
Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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Naslov | The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor (Article) |
Autori | Harms Frederike L Alawi Malik Amor David J Tan Tiong Y Cuturilo Goran Lissewski Christina Brinkmann Julia Schanze Denny Kutsche Kerstin Zenker Martin |
Info | AMERICAN JOURNAL OF MEDICAL GENETICS PART A, (2018), vol. 176 br. 2, str. 470-476 |
Projekat | BMBF [01GM1519A, 01GM1519E]; Deutsche Forschungsgemeinschaft [KU 1240/9-1, ZE 524/10-1] |
Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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Naslov | The Impact of 22q11.2 Microdeletion on Cardiac Surgery Postoperative Outcome (Article) |
Autori | Cuturilo Goran Drakulic Danijela D ![]() ![]() ![]() ![]() ![]() |
Info | PEDIATRIC CARDIOLOGY, (2017), vol. 38 br. 8, str. 1680-1685 |
Projekat | Ministry of Education, Science and Technological Development, Republic of Serbia [173051] |
Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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Naslov | Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients (Article) |
Autori | Garavelli Livia ... Cuturilo Goran ... (broj koautora 58) |
Info | GENETICS IN MEDICINE, (2017), vol. 19 br. 6, str. 691-700 |
Projekat | Telethon Italy [GEP 14131, GTB12001]; National Institute of Neurological Disorders and Stroke [K08NS078054]; Associazione Italiana Mowat Wilson ONLUS (AIMW) |
Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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Naslov | Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome (Article) |
Autori | Pannone Luca ... Cuturilo Goran ... (broj koautora 29) |
Info | HUMAN MUTATION, (2017), vol. 38 br. 4, str. 451-459 |
Projekat | Telethon-Italy [GGP13107]; Associazione Italiana per la Ricerca sul Cancro [IG 17583]; Italian Ministry of Health [RF-2011-02349938, RC-2016]; ERA-Net for Research Programmes on Rare Diseases (NSEuroNet); Ministero dell'Istruzione, dell'Universita e della |
Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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Naslov | Improving the Diagnosis of Children with 22q11.2 Deletion Syndrome: A Single-center Experience from Serbia (Article) |
Autori | Cuturilo Goran Drakulic Danijela D ![]() ![]() ![]() ![]() ![]() |
Info | INDIAN PEDIATRICS, (2016), vol. 53 br. 9, str. 786-789 |
Projekat | Ministry of Education, Science and Technological Development, Republic of Serbia [173051] |
Ispravka | Web of Science Elečas Rang časopisa Citati: Web of Science Scopus |
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