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Pregled prema Autor Čuturilo, Goran

Prikaz rezultata 1 do 20 od 43  sledeće >
GodinaNaslovAutor(i)Tip rezultataMp-kat.
20114q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndromeČuturilo, Goran  ; Menten, Björn; Krstic, Aleksandar; Drakulić, Danijela  ; Jovanović, Ida ; Parezanović, Vojislav  ; Stevanović, Milena  Naučni članak
21M21 - Vodeći međunarodni časopis kategorije M21
2021A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number VariantsChawner, Samuel JRA; ...; Čuturilo, Goran  ; ...; Mihaljević, Marina M. ; ...; Pejović-Milovančević, Milica M.  ; ...; (broj koautora 31)Naučni članak
21a+M21a+ - Vodeći međunarodni časopis kategorije M21a+
2019Activating Mutations of RRAS2 Are a Rare Cause of Noonan SyndromeCapri, Yline; Flex, Elisabetta; Krumbach, Oliver H.F.; Carpentieri, Giovanna; Cecchetti, Serena; Lißewski, Christina; Rezaei, Adariani Soheila; Schanze, Denny; Brinkmann, Julia; Piard, Juliette;
Pantaleoni, Francesca; Lepri, Francesca R.; Goh, Elaine Suk-Ying; Chong, Karen; Stieglitz, Elliot; Meyer, Julia; Kuechler, Alma; Bramswig, Nuria C.; Sacharow, Stephanie; Strullu, Marion; Vial, Yoann; Vignal, Cédric; Kensah, George; Čuturilo, Goran  ; Kazemein, Jasemi Neda S.; Dvorsky, Radovan; Monaghan, Kristin G.; Vincent, Lisa M.; Cavé, Hélène; Verloes, Alain; Ahmadian, Mohammad R.; Tartaglia, Marco; Zenker, Martin;
Naučni članak
21aM21a - Vodeći međunarodni časopis kategorije M21a
2011Analiza subtelomernih mikrodelecija i mikroduplikacija kod pacijenata sa mentalnom retardacijom i normalnim kariotipomČuturilo, Goran  ; Damnjanović, Tatjana  ; Novaković, Ivana  ; Raus, Mišela; Borlja, N.; Ruml, Jelena ; Dimitrijević, Nikola; Mitić, V.; Nikolić, Dimitrije  ; Bogičević, D.;
Međo, Biljana  ; Atanasković-Marković, Marina  ; Dimitrijević, Aleksandar; Jelisavčić, Marko; Mladenović, T.;
Konferencijski rad
Mp kategorija će biti prikazana naknadno.
2017Articulation skills, oral praxis and cognitive maturity of children with 22q11.2 deletion syndrome and children with phenotype resembling 22q11.2 deletion sindrome but without microdeletionsRakonjac, Marijana S. ; Čuturilo, Goran M.  ; Stevanović, Milena J.  ; Drakulić, Danijela D.  Konferencijski rad
Mp kategorija će biti prikazana naknadno.
2013Characterization of 22q11.2 region in patients with congenital heart malformationsDrakulić, Danijela  ; Čuturilo, Goran  ; Jovanović, Ida ; Milivojević, Milena  ; Kalanj Jasna; Međo, Biljana  ; Popović, Jelena  ; Stanisavljević, Danijela  ; Vuković, Vladanka  ; Stevanović, Milena  Conference Paper
Mp. category will be shown later
2016Clients' Perception of Outcome of Team-Based Prenatal and Reproductive Genetic Counseling in Serbian Service Using the Perceived Personal Control (PPC) QuestionnaireČuturilo, Goran  ; Kontić-Vučinić, Olivera  ; Novaković, Ivana  ; Ignjatović, Svetlana  ; Mijović, Marija; Šulović, Nenad  ; Vukolić, Dušan; Komnenić, Milica ; Tadić, Jasmina; Ćetković, Aleksandar;
Belić, Aleksandra; Ljubić, Aleksandar ;
Article
22M22
2009Clinical characteristics and etiology of epilepsy during first yearMitić, Vesna; Bogićević, Dragana; Dimitrijević, Nikola; Nikolić, Dimitrije  ; Čuturilo, Goran  Conference Paper
Mp. category will be shown later
2019Clinical next generation sequencing reveals an H3F3A gene as a new potential gene candidate for microcephaly associated with severe developmental delay, intellectual disability and growth retardationMaver, Ales; Čuturilo, Goran  ; Ruml-Stojanović, Jelena ; Peterlin, BorutArticle
23M23
2018Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 casesBergant, Gaber; Maver, Ales; Lovrecic, Luca; Čuturilo, Goran  ; Hodzic, Alenka; Peterlin, BorutArticle
21a+M21a+
2009Convulsive status epilepticus in a paediatric intensive care unitMeđo, Biljana  ; Nikolić, Dimitrije  ; Atanasković-Marković, Marina  ; Vunjak, N.; Rsovac, S.; Kalanj, Jasna; Čuturilo, Goran  Conference Paper
Mp. category will be shown later
2025Diabetes triggered by renal transplantation in patients with HNF1B variants - Single center experienceCvetković, Mirjana; Petrović, Ana; Pavlović, Sonja  ; Paripović, Dušan  ; Miloševski-Lomić, Gordana; Gojković, Ivana; Matijas, Kristina; Zdravković, Vera  ; Radović, Tijana; Pavićević, Polina  ;
Čuturilo, Goran  ; Bosankić, Brankica; Spasojević, Brankica  ;
Conference Paper
Mp. category will be shown later
2020Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual DisabilityRuml-Stojanović, Jelena ; Miletić, Aleksandra; Peterlin, Borut; Maver, Ales; Mijović, Marija; Borlja, Nikola; Dimitrijević, Brankica; Soldatović, Ivan A.  ; Čuturilo, Goran  Article
22M22
2025Diagnostic challenges in skeletal dysplasia: a clinical overview based on a 10-year retrospective study of single genetic departmentMijović, Marija; Čuturilo, Goran  ; Ruml-Stojanović, Jelena ; Mileticć Aleksandra; Bosankić, Brankica; Dedović, Maja; Branković, Marija  Conference Paper
Mp. category will be shown later
2018Diagnostic exome sequencing of syndromic epilepsy patients in clinical practiceTumienė, B.; Maver, A.; Writzl, K.; Hodžić, A.; Čuturilo, Goran  ; Kuzmanić-Šamija, R.; Čulić, V.; Peterlin, B.Article
21M21
2016Differences in speech and language abilities between children with 22q11.2 deletion syndrome and children with phenotypic features of 22q11.2 deletion syndrome but without microdeletionRakonjac, Marijana ; Čuturilo, Goran  ; Stevanović, Milena  ; Jeličić, Ljiljana  ; Subotić, Miško  ; Jovanović, Ida ; Drakulić, Danijela  Article
21M21
2015Early communication in Serbian speaking children with 22q11.2 deletion syndromeRakonjac, Marijana S. ; Jeličić, Ljiljana N.  ; Drakulić, Danijela D.  ; Čuturilo, Goran M.  ; Jovanović, Ida V. ; Stevanović, Milena J.  ; Vujović, M.Conference Paper
Mp. category will be shown later
2014Ectodermal defects and anal atresia in a child with a TP63 mutation-expanding the phenotypic spectrumRuml, Jelena ; Čuturilo, Goran  ; Lukač, Marija ; Peters, HartmutArticle
22M22
2011Epilepsy in a child with Wolf-Hirschhorn syndromeMitić, Vesna; Čuturilo, Goran  ; Novaković, Ivana  ; Dimitrijević, Nikola; Damnjanović, Tatjana  ; Dimitrijević, Aleksandar  ; Dobričić, Valerija; Kostić, Vladimir ; Radlović, NedeljkoArticle
23M23
2021Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unitMiletić, Aleksandra; Ruml-Stojanović, Jelena ; Parezanović, Vojislav  ; Rsovac, Snežana; Drakulić, Danijela  ; Soldatović, Ivan  ; Mijović, Marija; Bosankić, Brankica; Petrović, Hristina; Borlja, Nikola;
Milivojević, Milena  ; Marjanović, Ana ; Branković, Marija  ; Čuturilo, Goran  ;
Article
21aM21a