Година | Наслов | Аутор(и) | Тип резултата | Мп-кат. |
---|---|---|---|---|
2023 | Three case reports of patients with rare copy number variations in the recurrent 2q11.1-q11.2 region (✓) | Perović, Dijana ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() | Конференцијски рад | Мп категорија ће бити приказана накнадно. |
2023 | Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase Deficiency (✓) | Parezanović, M.; Ilić, Nina; Ostojić, Slavica; Stevanović, Galina B.; Ječmenica, Jovana R.; Maver, Ales; Sarajlija, Adrijan ![]() ![]() | Научни чланак | 23M23 - Рад у међ. часопису |
2022 | Acute disseminated encephalomyelitis in children and adolescents – 20-year single-center experience in Serbia (✓) | Ostojić, Slavica; Kravljanac, Ružica ![]() ![]() ![]() ![]() ![]() ![]() | Научни чланак | 23M23 - Рад у међ. часопису |
2022 | A Novel Variant in the LIPA Gene Associated with Distinct Phenotype (✓) | Sarajlija, Adrijan ![]() ![]() | Научни чланак | 23M23 - Рад у међ. часопису |
2021 | Ambiguous Genitalia and Lissencephaly in a 46,xy Neonate with a Novel Variant of Aristaless Gene (✓) | Basa, Mihail; Vuković, Rade; Sarajlija, Adrijan ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() | Научни чланак | 23M23 - Рад у међ. часопису |
2021 | Clinical and genetic characteristics of patients with congenital hyperinsulinism in 21 non-consanguineous families from Serbia (✓) | Raičević, Maja; Milenković, Tatjana; Hussain, Khalid; Đorđević, Maja ![]() ![]() ![]() ![]() ![]() ![]() | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
2020 | Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib | Sarajlija, Adrijan ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() | Научни чланак | 23M23 - Рад у међ. часопису |
2020 | Manufaktura G | Sarajlija, Adrijan ![]() ![]() | Остало | Мп категорија ће бити приказана накнадно. |
2019 | Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disordersA successful strategy for clinical research of rare diseases | Posset, Roland; ...; Sarajlija, Adrijan ![]() ![]() | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
2019 | Decreased plasma L-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment | Molema, Femke; ...; Djordjevic, Maja S; Sarajlija, Adrijan ![]() ![]() | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
2019 | Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry | Molema, Femke; ...; Djordjevic, Maja S; Sarajlija, Adrijan ![]() ![]() | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
2018 | WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype | Kulikovskaja, Leonora; Sarajlija, Adrijan ![]() ![]() ![]() ![]() | Научни чланак | Мп категорија ће бити приказана накнадно. |
2018 | Appendiceal involvement in a patient with Gaucher disease (✓) | Kocić, Marija; Đuričić, Slaviša M.; Đorđević, Maja ![]() ![]() ![]() ![]() ![]() ![]() | Научни чланак | 23M23 - Рад у међ. часопису |
2018 | Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants (✓) | Skakić, Anita ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
2017 | Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II | Dvorakova, L.; Vlaskova, H.; Sarajlija, A. ![]() ![]()
Kecman, B.; Djordjevic, M.; Baric, I.; Fumic, K.; Barisic, I.; Reboun, M.; Kulhanek, J.; Zeman, J.; Magner, M.;
| Научни чланак | 21M21 - Рад у врхунском међ. часопису |
2017 | Postprandial hyperinsulinemic hypoglycemia in a child as a late complication of esophageal reconstruction | Vukovic, Rade M; Milenkovic, Tatjana; Djordjevic, Maja S; Mitrovic, Katarina; Todorovic, Sladjana; Sarajlija, Adrijan ![]() ![]() | Научни чланак | 23M23 - Рад у међ. часопису |
2017 | Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature | Aguilera, Cinthia; Vinas-Jornet, Marina; Baena, Neus; Gabau, Elisabeth; Fernandez, Concepcion; Capdevila, Nuria; Cirkovic, Sanja S; Sarajlija, Adrijan ![]() ![]()
Ruiz, Anna; Guitart, Miriam;
| Научни чланак | 22M22 - Рад у истакнутом међ. часопису |
2016 | Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias | Stojiljković, Maja ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
2016 | Early Presentation of Hyperinsulinism/Hyperammonemia Syndrome in Three Serbian Patients | Sarajlija, Adrijan ![]() ![]() | Научни чланак | 22M22 - Рад у истакнутом међ. часопису |
2016 | DNA polymerase-alpha regulates the activation of type I interferons through cytosolic RNA:DNA synthesis | Starokadomskyy, Petro; ...; Sarajlija, Adrijan ![]() ![]() | Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |