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Autori: Cuturilo Goran

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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 
Info EUROPEAN JOURNAL OF HUMAN GENETICS, (2018), vol. 26 br. , Suppl. S, str. 465-465
Ispravka ISI/Web of Science   Elečas   Rang časopisa   Citati: ISI/Web of Science  
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 ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
Naslov Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care (Article)
Autori Ivanovski Ivan P  Djuric Olivera S  ...  Cuturilo Goran  ...  Kuburovic Vladimir  ...  (broj koautora 80) 
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 ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
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 ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
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 ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
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 ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
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 ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
Naslov The Impact of 22q11.2 Microdeletion on Cardiac Surgery Postoperative Outcome (Article)
Autori Cuturilo Goran  Drakulic Danijela D  Jovanovic Ida V  Ilic Slobodan G  Kalanj Jasna  Vulicevic Irena  Raus Misela V  Skoric Dejan  Mijovic Marija  Medjo Biljana P  Rsovac Snezana  Stevanovic Milena J 
Info PEDIATRIC CARDIOLOGY, (2017), vol. 38 br. 8, str. 1680-1685
Projekat Ministry of Education, Science and Technological Development, Republic of Serbia [173051]
Ispravka ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
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 ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
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 ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
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