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, BrankaFrequency of the hemochromatosis gene mutations in the population of Serbia and Montenegro
[2006]
Šarić, M.; Zamurović, Ljubica; Keckarević-Marković, Milica 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 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 Incontinentia pigmenti diagnostic criteria update [2013]
Minić, SnežanaClinical and genetic data on Lafora disease patients of Serbian/Montenegrin origin [2015]
Kecmanović, MiljanaPhenotype analysis impacts testing strategy in patients with Currarino syndrome
[2016]
Čuturilo, Goran Filteri
Po tipu
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