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Research outputs

Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants   [2018]

Skakić, Anita  ; Đorđević, M.; Sarajlija, A.  ; Klaassen, Kristel  ; Tošić, Nataša  ; Kecman, B.; Ugrin, Milena  ; Spasovski, Vesna  ; Pavlović, Sonja  ; Stojiljković, Maja  

Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice   [2018]

Tumienė, B.; Maver, A.; Writzl, K.; Hodžić, A.; Čuturilo, Goran  ; Kuzmanić-Šamija, R.; Čulić, V.; Peterlin, B.

Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias   [2016]

Stojiljković, Maja  ; Klaassen, Kristel  ; Đorđević, Maja  ; Sarajlija, Adrijan  ; Brasil, S.; Kecman, Božica; Grković, Sanja; Perić, Jelena  ; Rodriguez-Pombo, P.; Desviat, L.R.;
Pavlović, Sonja  ; Perez, B.;

Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Yugoslavia   [2002]

Topisirovic, I.; Dragaševic, N.; Savic, D.  ; Ristic, A.; Keckarevic, M.  ; Keckarevic, D.  ; Culjkovic, B.; Petrovic, I.; Romac, S.; Kostic, V. S.

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;

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.;

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.  

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