eNauka - pregled

Pregled prema Autor Peterlin, Borut

Prikaz rezultata 1 do 20 od 40  sledeće >
GodinaNaslovAutor(i)Tip rezultataMp-kat.
2022A multicenter study of genetic testing for Parkinson’s disease in the clinical setting (✓)Kovanda, Anja; Rački, Valentino; Bergant, Gaber; Georgiev, Dejan; Flisar, Dušan; Papić, Eliša; Branković, Marija  ; Janković, Milena  ; Svetel, Marina  ; Teran, Nataša;
Maver, Aleš; Kostić, Vladimir S.  ; Novaković, Ivana  ; Pirtošek, Zvezdan; Rakuša, Martin; Vuletić, Vladimira; Peterlin, Borut;
Naučni članak
21aM21a - Rad u međ. časopisu izuzetnih vrednosti
2018A novel CTNNB1 mutation in a patient with teratoma and multiple malformations - expansion of the phenotypic spectrum and possible new gene for Currarino phenotypeMijovic, Marija; Miletic, Aleksandra; Ruml-Stojanovic, Jelena; Peterlin, Borut; Maver, Ales; Borlja, Nikola; Dimitrijevic, Brankica; Lukic, M; Cuturilo, GoranKonferencijski rad
Mp kategorija će biti prikazana naknadno.
2023A novel splice-site FHOD3</i> founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans-A cohort studyVodnjov, Nina; Toplisek, Janez; Maver, Ales; Cuturilo, Goran; Jaklic, Helena; Teran, Natasa; Visnjar, Tanja; Skrjanec, Pusenjak Marusa; Hodzic, Alenka; Miljanovic, Olivera;
Peterlin, Borut; Writzl, Karin; Mahdieh, Nejat;
Naučni članak
22M22 - Rad u istaknutom međ. časopisu
2022A Novel Variant in the LIPA Gene Associated with Distinct Phenotype (✓)Sarajlija, Adrijan  ; Armengol, L.; Maver, Ales; Kitić, Ivana; Prokić, Dragan; Cehić, Maja; Đuričić, MS; Peterlin, BorutNaučni članak
23M23 - Rad u međ. časopisu
2018Association between angiotensin-converting enzyme gene insertion/deletion polymorphism and susceptibility to preterm birth: A case-control study and meta-analysisHocevar, Keli; Peterlin, Ana; Mitrovic-Jovanovic, Ana; Bozovic, Aleksandra; Ristanovic, Momcilo; Tul, Natasa; Peterlin, BorutNaučni članak
22M22 - Rad u istaknutom međ. časopisu
2018Association of circadian rhythm genes ARNTL/BMAL1 and CLOCK with multiple sclerosisLavtar, Polona; Rudolf, Gorazd; Maver, Ales; Hodzic, Alenka; Čizmarević, Nada Starčević; Živković, Maja  ; Jazbec, Sasa Sega; Ketis, Zalika Klemenc; Kapovic, Miljenko; Dinčić, Evica;
Raicevic, Ranko; Sepcic, Juraj; Lovrecic, Luca; Stanković, Aleksandra  ; Ristic, Smiljana; Peterlin, Borut;
Naučni članak
21M21 - Rad u vrhunskom međ. časopisu
2022Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G > A pathogenic variant-case seriesPetrovic, Pajic Sanja MI; Jarc-Vidmar, Martina; Fakin, Ana; Sustar-Habjan, Maja; Brecelj, Jelka; Volk, Marija; Maver, Ales; Peterlin, Borut; Hawlina, MarkoNaučni članak
22M22 - Rad u istaknutom međ. časopisu
2022Clinical exome sequencing in Serbian patients with movement disorders – Single centre experience (✓)Branković, Marija  ; Dragašević, Nataša  ; Dobričić, Valerija ; Maver, Aleš; Bergant, Gaber; Petrović, Igor  ; Perić, Stojan ; Marjanović, Ana  ; Janković, Milena  ; Jančić, Jasna  ;
Novaković, Ivana  ; Peterlin, Borut; Svetel, Marina  ; Kostić, Vladimir  ;
Naučni članak
23M23 - Rad u međ. časopisu
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 retardation (✓)Maver, Ales; Čuturilo, Goran  ; Ruml-Stojanović, Jelena ; Peterlin, BorutNaučni članak
23M23 - Rad u međ. časopisu
2018Comprehensive 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, BorutNaučni članak
21aM21a - Rad u međ. časopisu izuzetnih vrednosti
2022Current State of Compulsory Basic and Clinical Courses in Genetics for Medical Students at Medical Faculties in Balkan Countries With Slavic Languages (✓)Pereza, Nina; Terzic, Rifet; Plaseska-Karanfilska, Dijana; Miljanovic, Olivera; Novaković, Ivana V.  ; Poslon, Zeljka; Ostojic, Sasa; Peterlin, BorutNaučni članak
21M21 - Rad u vrhunskom međ. časopisu
2019De novo mutations in idiopathic male infertilityHodic, A; Maver, Ales; Zorn, Branko; Plaseska-Karanfilska, D; Ristanovic, Momcilo; Novakovic, Ivana V  ; Peterlin, BorutKonferencijski rad
Mp kategorija će biti prikazana naknadno.
2021De novo mutations in idiopathic male infertility-A pilot studyHodzic, Alenka; Maver, Ales; Plaseska-Karanfilska, Dijana; Ristanovic, Momcilo; Noveski, Predrag; Zorn, Branko; Terzic, Marija; Kunej, Tanja; Peterlin, BorutNaučni članak
21M21 - Rad u vrhunskom međ. časopisu
2020Diagnostic 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  Naučni članak
22M22 - Rad u istaknutom međ. časopisu
2022Diagnostic yield of whole exome sequencing in early-onset and familial Parkinson's disease in the Balkans (✓)Maver, Aleš; Kovanda, Anja; Bergant, Gaber; Teran, Nataša; Vrečar, Irena; Branković, Marija  ; Janković, Milena Z.  ; Svetel, Marina V.  ; Kostić, Vladimir S.  ; Novaković, Ivana V.  ;
Rački, Valentino; Vuletić, Vladimira; Peterlin, Borut;
Konferencijski rad
Mp kategorija će biti prikazana naknadno.
2024Earlier age of symptom onset in younger generation of familial cases of multiple sclerosisJovanovic, Aleksa Lj  ; Pekmezovic, Tatjana D  ; Mesaros, Sarlota T; Novakovic, Ivana V  ; Peterlin, Borut; Veselinovic, Nikola D; Tamas, Olivera S; Ivanovic, Jovana B; Maric, Gorica D  ; Andabaka, Marko M;
Momcilovic, Nikola; Drulovic, Jelena S  ;
Naučni članak
22M22 - Rad u istaknutom međ. časopisu
2024Exclusive breastfeeding may be a protective factor in individuals with familial multiple sclerosis. A population registry-based case-control studyJovanovic, Aleksa Lj  ; Pekmezovic, Tatjana D  ; Mesaros, Sarlota T; Novakovic, Ivana V  ; Peterlin, Borut; Veselinovic, Nikola D; Tamas, Olivera S; Ivanovic, Jovana B; Maric, Gorica D  ; Andabaka, Marko M;
Momcilovic, Nikola; Drulovic, Jelena S  ;
Naučni članak
22M22 - Rad u istaknutom međ. časopisu
2019Exome sequencing in disclosing causes of unexpected death in child - single genetic center experienceMijovic, Marija; Miletic, Aleksandra; Dimitrijevic, Brankica; Peterlin, Borut; Maver, Ales; Ruml-Stojanovic, Jelena; Zivanovic, M; Cuturilo, GoranKonferencijski rad
Mp kategorija će biti prikazana naknadno.
2024Genetic testing for monogenic forms of male infertility contributes to the clinical diagnosis of men with idiopathic severe male infertilityPodgrajsek, Rebeka; Hodzic, Alenka; Maver, Ales; Stimpfel, Martin; Andjelic, Aleksander; Miljanovic, Olivera; Ristanovic, Momcilo; Novakovic, Ivana V  ; Plaseska-Karanfilska, Dijana; Noveski, Predrag;
Ostojic, Sasa; Grskovic, Antun; Buretic-Tomljanovic, Alena; Peterlin, Borut;
Konferencijski rad
Mp kategorija će biti prikazana naknadno.
2013Genetic Variation in Circadian Rhythm Genes CLOCK and ARNTL as Risk Factor for Male InfertilityHodžić, Alenka; Ristanović, Momčilo  ; Zorn, Branko; Tulić, Cane ; Maver, Aleš; Novaković, Ivana  ; Peterlin, BorutNaučni članak
21M21 - Rad u vrhunskom međ. časopisu