Претрага

Резултати

Prenatal diagnosis of Saethre-Chotzen syndrome caused by TWIST1 microdeletion and complex chromosomal rearrangement involving chromosomes 5, 7 and 11 (✓) [2023]

Joksić, Ivana ; Toljić, Mina ; Maksimović, Nela ; Perović, Dijana ; Jurišić, Aleksandar

The G894T polymorphism of the eNOS gene and atherosclerosis precursors in Serbian child population (✓) [2007]

Damnjanović, Tatjana ; Novaković, Ivana ; Bunjevački, Vera ; Nedeljković, S.; Vukotić, M.; Simeunović, Slavko ; Luković, Ljiljana

Untreated PKU patients without intellectual disability: SHANK gene family as a candidate modifier (✓) [2022]

Kristel Klaassen ; Đorđević, Maja; Skakić, Anita ; Božica Kecman; Parezanović, Marina ; Anđelković, Marina ; Stevanović, Nina ; Spasovski, Vesna ; Ugrin, Milena ; Drmanac, Radoje;

Pavlović, Sonja ; Stojiljković, Maja ;

Analysis of ATXN1 and ATXN2 repeat length in C9ORF72 expansion carriers [2019]

Marjanovic, Ana ; Dobricic, Valerija S; Brankovic, M; Jankovic, Milena Z ; Mandic, Gorana B; Stefanova, Elka D ; Stevic, Zorica D; Novakovic, Ivana V ; Kostic, Vladimir S

De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome [2015]

Langlois, Sylvie; Tarailo Graovac, Maja ; Sayson, Bryan; Drögemöller, Britt; Swenerton, Anne; Ross, Colin JD; Wasserman, Wyeth W; van, Karnebeek Clara DM

Association of ADARB1 gene with suicide attempt risk in patients with major psychiatric disorders [2015]

Karanović, Jelena ; Saša Šviković; Maja Pantović; Svetlana Đurica; Brajušković, Goran ; Damjanović, Aleksandar ; Jovanović, Vladimir ; Ivković, Maja ; Stanka Romac; Savić-Pavićević, Dušanka

Gene expression analysis in cortical neurons differentiated from 32 induced pluripotent stem cell (iPSC) lines of THAP1 mutation carriers and controls [2019]

Baumann, Hauke; Trilck-Winkler, Michaela; Grosse, M; Munchau, Alexander; Kostic, Vladimir S; Klein, Christine; Kaiser, Frank J; Seibler, Philip; Lohmann, Katja

Novel mosaic CREBBP mutation in a patient with overlapping clinical features of Rubinstein-Taybi syndrome and Floating-Harbor syndrome [2019]

Ruml-Stojanovic, Jelena; Mijovic, Marija; Miletic, Aleksandra; Dimitrijevic, Brankica; Peterlin, Borut; Maver, Ales; Cuturilo, Goran

Variants in the 3′UTR of SNCA do not affect miRNA-433 binding and alpha-synuclein expression [2012]

Schmitt, Ina; Wüllner, Ullrich; van, Rooyen Jan Pierre; Khazneh, Hassan; Becker, Julian; Volk, Alexander; Kubisch, Christian; Becker, Tim; Kostić, Vladimir ; Klein, Christine;

Ramirez, Alfredo;

Screening for CFTR gene mutations and polymorphisms in patients with chronic pancreatitis [2002]

Nikolić, A ; Kušić-Tišma, Jelena ; Radojković, Dragica ; Lukić, S ; Milosavljević, T ; Savić, A