eNauka - pregled
Pregled prema Autor Čuturilo, Goran
Prikaz rezultata 1 do 20 od 46
sledeće >
| Godina | Naslov | Autor(i) | Tip rezultata | Mp-kat. |
|---|---|---|---|---|
| 2011 | 4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome | Čuturilo, Goran   ; Menten, Björn; Krstic, Aleksandar; Drakulić, Danijela ; Jovanović, Ida ; Parezanović, Vojislav ; Stevanović, Milena | Naučni članak | 21M21 - Vodeći međunarodni časopis kategorije M21 |
| 2021 | A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants | Chawner, Samuel JRA; ...; Čuturilo, Goran ; ...; Mihaljević, Marina M. ; ...; Pejović-Milovančević, Milica M. ; ...; (broj koautora 31) | Naučni članak | 21a+M21a+ - Vodeći međunarodni časopis kategorije M21a+ |
| 2025 | A Novel 4.2 kb deletion of the 3'UTR of RUNX2 Gene Causes Cleidocranial Dysplasia: Further Delineation of the Role of yhe 3'UTR | Mijović, Marija; Čuturilo, Goran ; Ruml-Stojanović, Jelena ; Branković, Marija ; Miletić, Aleksandra; Bosankić, Brankica; Dedović, Maja; Perović, Dijana ; Maksimović, Nela ; Damnjanović, Tatjana M. | Article | 23M23 |
| 2019 | Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome | Capri, 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 |
| 2011 | Analiza subtelomernih mikrodelecija i mikroduplikacija kod pacijenata sa mentalnom retardacijom i normalnim kariotipom | Čuturilo, 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.; | Conference Paper | Mp. category will be shown later |
| 2026 | Analysis of Copy Number and Sequence Variants Linked to Cardiac Development in Children with Syndromic Congenital Heart Defects | Damnjanović, Tatjana ; Maksimović, Nela ; Đuranović-Uklein, Ana ; Bosankić, Brankica; Jekić, Biljana ; Grk, Milka ; Dušanovic-Pjević, Marija ; Rašić, Milica ; Stojanovski, Nataša ; Pešić, Milica ;
Novaković, Ivana
; Čuturilo, Goran ; Perović, Dijana ; | Article | 23M23 |
| 2017 | Articulation skills, oral praxis and cognitive maturity of children with 22q11.2 deletion syndrome and children with phenotype resembling 22q11.2 deletion sindrome but without microdeletions | Rakonjac, Marijana S. ; Čuturilo, Goran M. ; Stevanović, Milena J. ; Drakulić, Danijela D. | Conference Paper | Mp. category will be shown later |
| 2013 | Characterization of 22q11.2 region in patients with congenital heart malformations | Drakulić, 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 |
| 2016 | Clients' Perception of Outcome of Team-Based Prenatal and Reproductive Genetic Counseling in Serbian Service Using the Perceived Personal Control (PPC) Questionnaire | Čuturilo, 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 |
| 2009 | Clinical characteristics and etiology of epilepsy during first year | Mitić, Vesna; Bogićević, Dragana; Dimitrijević, Nikola; Nikolić, Dimitrije ; Čuturilo, Goran | Conference Paper | Mp. category will be shown later |
| 2019 | 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 | Maver, Ales; Čuturilo, Goran ; Ruml-Stojanović, Jelena ; Peterlin, Borut | Article | 23M23 |
| 2018 | Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases | Bergant, Gaber; Maver, Ales; Lovrecic, Luca; Čuturilo, Goran ; Hodzic, Alenka; Peterlin, Borut | Article | 21a+M21a+ |
| 2009 | Convulsive status epilepticus in a paediatric intensive care unit | Međo, Biljana ; Nikolić, Dimitrije ; Atanasković-Marković, Marina ; Vunjak, N.; Rsovac, S.; Kalanj, Jasna; Čuturilo, Goran | Conference Paper | Mp. category will be shown later |
| 2025 | Diabetes triggered by renal transplantation in patients with HNF1B variants - Single center experience | Cvetković, 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 |
| 2020 | Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability | Ruml-Stojanović, Jelena ; Miletić, Aleksandra; Peterlin, Borut; Maver, Ales; Mijović, Marija; Borlja, Nikola; Dimitrijević, Brankica; Soldatović, Ivan A. ; Čuturilo, Goran | Article | 22M22 |
| 2025 | Diagnostic challenges in skeletal dysplasia: a clinical overview based on a 10-year retrospective study of single genetic department | Mijović, Marija; Čuturilo, Goran ; Ruml-Stojanović, Jelena ; Mileticć Aleksandra; Bosankić, Brankica; Dedović, Maja; Branković, Marija | Conference Paper | Mp. category will be shown later |
| 2018 | Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice | Tumienė, B.; Maver, A.; Writzl, K.; Hodžić, A.; Čuturilo, Goran ; Kuzmanić-Šamija, R.; Čulić, V.; Peterlin, B. | Article | 21M21 |
| 2016 | Differences in speech and language abilities between children with 22q11.2 deletion syndrome and children with phenotypic features of 22q11.2 deletion syndrome but without microdeletion | Rakonjac, Marijana ; Čuturilo, Goran ; Stevanović, Milena ; Jeličić, Ljiljana ; Subotić, Miško ; Jovanović, Ida ; Drakulić, Danijela | Article | 21M21 |
| 2015 | Early communication in Serbian speaking children with 22q11.2 deletion syndrome | Rakonjac, 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 |
| 2014 | Ectodermal defects and anal atresia in a child with a TP63 mutation-expanding the phenotypic spectrum | Ruml, Jelena ; Čuturilo, Goran ; Lukač, Marija ; Peters, Hartmut | Article | 22M22 |