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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 Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice
[2018]
Tumienė, B.; Maver, A.; Writzl, K.; Hodžić, A.; Čuturilo, Goran Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias
[2016]
Stojiljković, Maja Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Yugoslavia [2002]
Topisirovic, I.; Dragaševic, N.; Savic, D.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 Phenotype analysis impacts testing strategy in patients with Currarino syndrome
[2016]
Čuturilo, Goran Clinical and genetic data on Lafora disease patients of Serbian/Montenegrin origin [2015]
Kecmanović, MiljanaIncontinentia pigmenti diagnostic criteria update [2013]
Minić, SnežanaMolecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro [2006]
Stojiljković, Mojca; Jovanović, J.; Đorđević, M.; Grković, S.; Drazić, M. Cvorkov; Petručev, BrankaFilters
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