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Autori: Cuturilo Goran

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Naslov Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability (Article)
Autori Ruml-Stojanovic Jelena  Miletic Aleksandra  Peterlin Borut  Maver Ales  Mijovic Marija  Borlja Nikola  Dimitrijevic Brankica  Soldatovic Ivan A  Cuturilo Goran 
Info JOURNAL OF CHILD NEUROLOGY, (2020), vol. 35 br. 2, str. 116-131
Ispravka ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
Naslov GLUT1 deficiency syndrome: a case report with a novel SLC2A1 mutation (Article)
Autori Ivancevic Nikola  Cerovac Natasa M  Nikolic Blazo  Cuturilo Goran  Marjanovic Ana  Marjanovic Ana  Novakovic Ivana V 
Info VOJNOSANITETSKI PREGLED, (2019), vol. 76 br. 5, str. 543-546
Projekat Serbian Ministry of Education, Science and Technological Development [ON175091]
Ispravka ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
Naslov Otopalatodigital Syndrome Type I: Novel Characteristics and Prenatal Manifestations in Two Siblings (Article)
Autori Joksic Ivana D  Cuturilo Goran  Jurisic Aleksandar I  Djuricic Slavisa M  Peterlin Borut  Mijovic Marija  Karadzov-Orlic Natasa T  Egic Amira  Milovanovic Zagorka M 
Info BALKAN JOURNAL OF MEDICAL GENETICS, (2019), vol. 22 br. 2, str. 83-87
Ispravka ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
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 ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
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 ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
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 
Info EUROPEAN JOURNAL OF HUMAN GENETICS, (2019), vol. 27 br. , Suppl. 2, str. 1299-1300
Ispravka ISI/Web of Science   Elečas   Rang časopisa   Citati: ISI/Web of Science  
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 
Info EUROPEAN JOURNAL OF HUMAN GENETICS, (2019), vol. 27 br. , Suppl. 1, str. 945-945
Ispravka ISI/Web of Science   Elečas   Rang časopisa   Citati: ISI/Web of Science  
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 ISI/Web of Science   Elečas   Rang časopisa   Citati: ISI/Web of Science  
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 
Info EUROPEAN JOURNAL OF HUMAN GENETICS, (2019), vol. 27 br. , Suppl. 1, str. 734-735
Ispravka ISI/Web of Science   Elečas   Rang časopisa   Citati: ISI/Web of Science  
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 
Info EUROPEAN JOURNAL OF HUMAN GENETICS, (2019), vol. 27 br. , Suppl. 1, str. 164-164
Ispravka ISI/Web of Science   Elečas   Rang časopisa   Citati: ISI/Web of Science  
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