Pretraga

Rezultati

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;

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

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;

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.;

Incontinentia pigmenti diagnostic criteria update [2013]

Minić, Snežana ; Trpinac, Dušan ; Obradović, Miljana

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.

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.