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Research outputs

Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy [2026]

Volk, Marija; Maver, Ales; Vidmar, Martina Jarc; Trost, Nusa; Visnjar, Tanja; Fakin, Ana; Kovac, Lea; Habjan, Maja Sustar; Malinar, Lucija; Petrovic, Pajic Sanja MI;

Jerman, Urska Dragin; Romih, Rok; Hawlina, Marko; Peterlin, Borut;

Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia [2017]

Barresi, S; Niceta, M; Alfieri, P; Brankovic, Vesna; Piccini, G; Bruselles, A; Barone, MR; Cusmai, Raffaella; Tartaglia, M; Bertini, E;

Zanni, G;

Phenotype analysis impacts testing strategy in patients with Currarino syndrome [2016]

Čuturilo, Goran ; Hodge, JC; Runke, CK; Thorland, EC; Al-Owain, MA; Ellison, JW; Babović-Vuksanović, D.

Clinical and genetic data on Lafora disease patients of Serbian/Montenegrin origin [2015]

Kecmanović, Miljana ; Jović, Nebojša ; Keckarević Marković, Milica ; Keckarević, Dušan ; Stevanović, G.; Ignjatović, P.; Romac, S.

Incontinentia pigmenti diagnostic criteria update [2013]

Minić, Snežana ; Trpinac, Dušan ; Obradović, Miljana

Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro [2006]

Stojiljković, Mojca; Jovanović, J.; Đorđević, M.; Grković, S.; Drazić, M. Cvorkov; Petručev, Branka ; Tosić, N. ; Karan-Đurašević, Teodora ; Stojanov, L.; Pavlović, S.

Frequency of the hemochromatosis gene mutations in the population of Serbia and Montenegro [2006]

Šarić, M.; Zamurović, Ljubica; Keckarević-Marković, Milica ; Keckarević, Dušan P. ; Stevanović, Milena ; Savić-Pavićević, Dušanka ; Jović, Jasna; Romac, Stanka

Tetraploidy in a 26-month-old girl (cytogenetic and molecular studies) [2002]

Guc-Scekić, M; Milašin, Jelena ; Stevanović, Milena ; Stojanov, LJ; Đorđević, M

Biallelic RFC1 Expansions Are a Rare Cause of Early-Onset and Familial Parkinson's Disease [2025]

Kovanda, Anja; Šušmelj, Lara; Jaklič, Helena; Lukežič, Tadeja; Maver, Aleš; Petrović, Igor N. ; Dragašević-Mišković, Nataša T. ; Svetel, Marina V. ; Racki, Valentino; Vuletič, Vladimira;

Novakovič, Ivana V. ; Peterlin, Borut;

Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II [2017]

Dvorakova, L.; Vlaskova, H.; Sarajlija, Adrijan ; Ramadza, D. P.; Poupetova, H.; Hruba, E.; Hlavata, A.; Bzduch, V.; Peskova, K.; Storkanova, G.;

Kecman, Božica; Đorđević, Maja ; Baric, I.; Fumic, K.; Barisic, I.; Reboun, M.; Kulhanek, J.; Zeman, J.; Magner, M.;