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Browsing by Author Peterlin, Borut

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Issue DateTitleAuthor(s)TypeМ-cat.
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;
Article
21aM21a
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, GoranConference Paper
Mp. category will be shown later
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;
Article
22M22
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, BorutArticle
23M23
2022Analysis of “clinical exome” panel in Serbian patients with cognitive disorders (✓)Branković, Marija  ; Stefanova, Elka  ; Mandić, Gorana  ; Marjanović, Ana  ; Dobričić, Valerija ; Maver, Aleš; Bergant, Gaber; Stević, Zorica  ; Janković, Milena  ; Novaković, Ivana  ;
Peterlin, Borut; Kostić, Vladimir  ;
Article
23M23
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, BorutArticle
22M22
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;
Article
21M21
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, MarkoArticle
22M22
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  ;
Article
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
21aM21a
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, BorutArticle
21M21
2019De novo mutations in idiopathic male infertilityHodic, A; Maver, Ales; Zorn, Branko; Plaseska-Karanfilska, D; Ristanovic, Momcilo; Novakovic, Ivana V  ; Peterlin, BorutConference Paper
Mp. category will be shown later
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, BorutArticle
21M21
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  Article
22M22
2022Diagnostic yield of whole exome sequencing in early-onset and familial Parkinson's disease in the BalkansMaver, Ales; Kovanda, Anja; Bergant, Gaber; Teran, Natasa; Vrecar, Irena; Brankovic, Marija  ; Jankovic, Milena Z  ; Svetel, Marina V  ; Kostic, Vladimir S; Novakovic, Ivana V  ;
Racki, Valentino; Vuletic, Vladimira; Peterlin, Borut;
Conference Paper
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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, GoranConference Paper
Mp. category will be shown later
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, BorutArticle
21M21
2017Genetic variation in leptin and leptin receptor genes as a risk factor for idiopathic male infertilityHodzic, Alenka; Ristanovic, Momcilo; Zorn, Branko; Tulic, Cane Dz; Maver, Ales; Novakovic, Ivana V  ; Plaseska-Karanfilska, D; Peterlin, BorutArticle
22M22
2018Genetic variation in the CLOCK gene is associated with idiopathic recurrent spontaneous abortion (✓)Hodžić, Alenka; Lavtar, Polona; Ristanović, Momčilo  ; Novaković, Ivana  ; Dotlić, Jelena  ; Peterlin, BorutArticle
21M21
2018Genotype and phenotype characteristics of Leber hereditary optic neuropathy (LHON) patients in SloveniaPetrovic, Pajic Sanja MI; Jarc-Vidmar, Martina; Fakin, Ana; Sustar, Maja; Brecelj, Jelka; Lapajne, Luka; Glavac, Damjan; Tajnik, Mojca; Peterlin, Borut; Volk, Marija;
Maver, Ales; Hawlina, Marko;
Conference Paper
Mp. category will be shown later