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Pregled prema Autor Peterlin, Borut
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Godina | Naslov | Autor(i) | Tip rezultata | Mp-kat. |
---|---|---|---|---|
2022 | A 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; | Naučni članak | 21aM21a - Rad u međ. časopisu izuzetnih vrednosti |
2018 | A novel CTNNB1 mutation in a patient with teratoma and multiple malformations - expansion of the phenotypic spectrum and possible new gene for Currarino phenotype | Mijovic, Marija; Miletic, Aleksandra; Ruml-Stojanovic, Jelena; Peterlin, Borut; Maver, Ales; Borlja, Nikola; Dimitrijevic, Brankica; Lukic, M; Cuturilo, Goran | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
2023 | A novel splice-site FHOD3</i> founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans-A cohort study | Vodnjov, 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 |
2022 | A 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, Borut | Naučni članak | 23M23 - Rad u međ. časopisu |
2018 | Association between angiotensin-converting enzyme gene insertion/deletion polymorphism and susceptibility to preterm birth: A case-control study and meta-analysis | Hocevar, Keli; Peterlin, Ana; Mitrovic-Jovanovic, Ana; Bozovic, Aleksandra; Ristanovic, Momcilo; Tul, Natasa; Peterlin, Borut | Naučni članak | 22M22 - Rad u istaknutom međ. časopisu |
2018 | Association of circadian rhythm genes ARNTL/BMAL1 and CLOCK with multiple sclerosis | Lavtar, Polona; Rudolf, Gorazd; Maver, Ales; Hodzic, Alenka; Čizmarević, Nada Starčević; Živković, Maja ; Jazbec, Sasa Sega; Ketis, Zalika Klemenc; Kapovic, Miljenko; Dinčić, Evica; | Naučni članak | 21M21 - Rad u vrhunskom međ. časopisu |
2022 | Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G > A pathogenic variant-case series | Petrovic, Pajic Sanja MI; Jarc-Vidmar, Martina; Fakin, Ana; Sustar-Habjan, Maja; Brecelj, Jelka; Volk, Marija; Maver, Ales; Peterlin, Borut; Hawlina, Marko | Naučni članak | 22M22 - Rad u istaknutom međ. časopisu |
2022 | Clinical 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 ; | Naučni članak | 23M23 - Rad u međ. časopisu |
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 | Naučni članak | 23M23 - Rad u međ. časopisu |
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 | Naučni članak | 21aM21a - Rad u međ. časopisu izuzetnih vrednosti |
2022 | Current 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, Borut | Naučni članak | 21M21 - Rad u vrhunskom međ. časopisu |
2019 | De novo mutations in idiopathic male infertility | Hodic, A; Maver, Ales; Zorn, Branko; Plaseska-Karanfilska, D; Ristanovic, Momcilo; Novakovic, Ivana V ; Peterlin, Borut | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
2021 | De novo mutations in idiopathic male infertility-A pilot study | Hodzic, Alenka; Maver, Ales; Plaseska-Karanfilska, Dijana; Ristanovic, Momcilo; Noveski, Predrag; Zorn, Branko; Terzic, Marija; Kunej, Tanja; Peterlin, Borut | Naučni članak | 21M21 - Rad u vrhunskom međ. časopisu |
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 | Naučni članak | 22M22 - Rad u istaknutom međ. časopisu |
2022 | Diagnostic 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. |
2024 | Earlier age of symptom onset in younger generation of familial cases of multiple sclerosis | Jovanovic, 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; | Naučni članak | 22M22 - Rad u istaknutom međ. časopisu |
2024 | Exclusive breastfeeding may be a protective factor in individuals with familial multiple sclerosis. A population registry-based case-control study | Jovanovic, 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; | Naučni članak | 22M22 - Rad u istaknutom međ. časopisu |
2019 | Exome sequencing in disclosing causes of unexpected death in child - single genetic center experience | Mijovic, Marija; Miletic, Aleksandra; Dimitrijevic, Brankica; Peterlin, Borut; Maver, Ales; Ruml-Stojanovic, Jelena; Zivanovic, M; Cuturilo, Goran | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
2024 | Genetic testing for monogenic forms of male infertility contributes to the clinical diagnosis of men with idiopathic severe male infertility | Podgrajsek, 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. |
2013 | Genetic Variation in Circadian Rhythm Genes CLOCK and ARNTL as Risk Factor for Male Infertility | Hodžić, Alenka; Ristanović, Momčilo ; Zorn, Branko; Tulić, Cane ; Maver, Aleš; Novaković, Ivana ; Peterlin, Borut | Naučni članak | 21M21 - Rad u vrhunskom međ. časopisu |