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Research outputs

Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in <i>COL4A3/COL4A4</i>?   [2024]

Riedhammer, Korbinian M; Simmendinger, Hannes; Tasic, Velibor; Putnik, Jovana; Abazi-Emini, Nora; Stajic, Natasa; Berutti, Riccardo; Weidenbusch, Marc; Patzer, Ludwig; Lungu, Adrian;
Milosevski-Lomic, Gordana; Guenthner, Roman; Braunisch, Matthias C; Comic, Jasmina; Hoefele, Julia;

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.;

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 

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;

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.  

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

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

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.

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

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