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Преглед према Аутор Peterlin, Borut
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Година | Наслов | Аутор(и) | Тип резултата | Мп-кат. |
---|---|---|---|---|
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 ![]() ![]() ![]() ![]() ![]() ![]() | Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |
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 | Конференцијски рад | Мп категорија ће бити приказана накнадно. |
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;
| Научни чланак | 22M22 - Рад у истакнутом међ. часопису |
2022 | A Novel Variant in the LIPA Gene Associated with Distinct Phenotype (✓) | Sarajlija, Adrijan ![]() ![]() | Научни чланак | 23M23 - Рад у међ. часопису |
2022 | Analysis of “clinical exome” panel in Serbian patients with cognitive disorders (✓) | Branković, Marija ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() | Научни чланак | 23M23 - Рад у међ. часопису |
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 | Научни чланак | 22M22 - Рад у истакнутом међ. часопису |
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 ![]() ![]() | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
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 | Научни чланак | 22M22 - Рад у истакнутом међ. часопису |
2022 | Clinical exome sequencing in Serbian patients with movement disorders – Single centre experience (✓) | Branković, Marija ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() | Научни чланак | 23M23 - Рад у међ. часопису |
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 ![]() ![]() | Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |
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. ![]() ![]() | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
2019 | De novo mutations in idiopathic male infertility | Hodic, A; Maver, Ales; Zorn, Branko; Plaseska-Karanfilska, D; Ristanovic, Momcilo; Novakovic, Ivana V ![]() ![]() | Конференцијски рад | Мп категорија ће бити приказана накнадно. |
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 | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
2020 | Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability (✓) | Ruml-Stojanović, Jelena ![]() ![]() ![]() ![]() ![]() | Научни чланак | 22M22 - Рад у истакнутом међ. часопису |
2022 | Diagnostic yield of whole exome sequencing in early-onset and familial Parkinson's disease in the Balkans | Maver, Ales; Kovanda, Anja; Bergant, Gaber; Teran, Natasa; Vrecar, Irena; Brankovic, Marija ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]()
Racki, Valentino; Vuletic, Vladimira; Peterlin, Borut;
| Конференцијски рад | Мп категорија ће бити приказана накнадно. |
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 | Конференцијски рад | Мп категорија ће бити приказана накнадно. |
2013 | Genetic Variation in Circadian Rhythm Genes CLOCK and ARNTL as Risk Factor for Male Infertility | Hodžić, Alenka; Ristanović, Momčilo ![]() ![]() ![]() ![]() ![]() | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
2017 | Genetic variation in leptin and leptin receptor genes as a risk factor for idiopathic male infertility | Hodzic, Alenka; Ristanovic, Momcilo; Zorn, Branko; Tulic, Cane Dz; Maver, Ales; Novakovic, Ivana V ![]() ![]() | Научни чланак | 22M22 - Рад у истакнутом међ. часопису |
2018 | Genetic variation in the CLOCK gene is associated with idiopathic recurrent spontaneous abortion (✓) | Hodžić, Alenka; Lavtar, Polona; Ristanović, Momčilo ![]() ![]() ![]() ![]() ![]() ![]() | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
2018 | Genotype and phenotype characteristics of Leber hereditary optic neuropathy (LHON) patients in Slovenia | Petrovic, 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;
| Конференцијски рад | Мп категорија ће бити приказана накнадно. |