eNauka - pregled
Pregled prema Autor Maver, Aleš
Prikaz rezultata 1 do 18 od 18
| Godina | Naslov | Autor(i) | Tip rezultata | Mp-kat. |
|---|---|---|---|---|
| 2022 | A multicenter study of genetic testing for Parkinson’s disease in the clinical setting | Kovanda, Anja; Rački, Valentino; Bergant, Gaber; Georgiev, Dejan; Flisar, Dušan; Papić, Eliša; Branković, Marija   ; Janković, Milena ; Svetel, Marina ; Teran, Nataša;
Maver, Aleš; Kostić, Vladimir S.
; Novaković, Ivana ; Pirtošek, Zvezdan; Rakuša, Martin; Vuletić, Vladimira; Peterlin, Borut; | Naučni članak | 21aM21a - Vodeći međunarodni časopis kategorije M21a |
| 2025 | Biallelic RFC1 Expansions Are a Rare Cause of Early-Onset and Familial Parkinson's Disease | Kovanda, Anja; Šušmelj, Lara; Jaklič, Helena; Lukežič, Tadeja; Maver, Aleš; Petrović, Igor N. ; Dragašević-Mišković, Nataša T. ; Svetel, Marina V. ; Racki, Valentino; Vuletič, Vladimira;
Novakovič, Ivana V.
; Peterlin, Borut; | Informativni prilog | 22M22 - Međunarodni časopis kategorije M22 |
| 2025 | Biallelic RFC1 expansions as a rare cause of familial and early onset Parkinson's disease in the Slavic population | Kovanda, Anja; Šušmelj, Lara; Lukežič, Tadeja; Maver, Aleš; Rački, Valentino; Vuletić, Vladimira; Svetel, Marina V. ; Novaković, Ivana ; Peterlin, Borut | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2025 | Clinical application of whole exome sequencing in the diagnosis of men with severely impaired spermatogenesis | Podgrajsek, Rebeka; Hodzic, Alenka; Maver, Aleš; Stimpfel, Martin; Andjelic, Aleksander; Miljanovic, Olivera; Ristanović, Momčilo ; Novaković, Ivana V. ; Plaseska-Karanfilska, Dijana; Noveski, Predrag;
Ostojic, Sasa; Buretic-Tomljanovic, Alena; Peterlin, Borut;
| Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2024 | Comparison of the ABC and ACMG systems for variant classification | Houge, Gunnar; Bratland, Eirik; Aukrust, Ingvild; Tveten, Kristian; Žukauskaitė, Gabrielė; Sansovic, Ivona; Brea-Fernández, Alejandro J; Mayer, Karin; Paakkola, Teija; McKenna, Caoimhe;
Wright, William; Keckarević-Marković, Milica
; Lildballe, Dorte L; Konecny, Michal; Smol, Thomas; Alhopuro, Pia; Gouttenoire, Estelle Arnaud; Obeid, Katharina; Todorova, Albena; Jankovic, Milena ; Lubieniecka, Joanna M; Stojiljkovic, Maja ; Buisine, Marie-Pierre; Haukanes, Bjørn Ivar; Lorans, Marie; Roomere, Hanno; Petit, François M; Haanpää, Maria K; Beneteau, Claire; Pérez, Belén; Plaseska-Karanfilska, Dijana; Rath, Matthias; Fuhrmann, Nico; Ferreira, Bibiana I; Stephanou, Coralea; Sjursen, Wenche; Maver, Aleš; Rouzier, Cécile; Chirita-Emandi, Adela; Gonçalves, João; Kuek, Wei Cheng David; Broly, Martin; Haer-Wigman, Lonneke; Thong, Meow-Keong; Tae, Sok-Kun; Hyblova, Michaela; den Dunnen, Johan T; Laner, Andreas; | Naučni članak | 21M21 - Vodeći međunarodni časopis kategorije M21 |
| 2022 | Diagnostic yield of whole exome sequencing in early-onset and familial Parkinson's disease in the Balkans | Maver, Aleš; Kovanda, Anja; Bergant, Gaber; Teran, Nataša; Vrečar, Irena; Branković, Marija ; Janković, Milena Z. ; Svetel, Marina V. ; Kostić, Vladimir S. ; Novaković, Ivana V. ;
Rački, Valentino; Vuletić, Vladimira; Peterlin, Borut;
| Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2024 | Expanding the Phenotypic Spectrum: Chronic Kidney Disease in a Patient with Combined Oxidative Phosphorylation Defect 21 | Paripović, Aleksandra; Maver, Aleš; Stajić, Nataša; Putnik, Jovana; Ostojić, Slavica B.; Alimpić, Biljana; Ilić, Nina; Sarajlija, Adrijan | Naučni članak | 23M23 - Međunarodni časopis kategorije M23 |
| 2024 | Genetic testing for monogenic forms of male infertility contributes to the clinical diagnosis of men with idiopathic severe male infertility | Podgrajšek, Rebeka; Hodžić, Alenka; Maver, Aleš; Štimpfel, Martin; Anđelić, Aleksander; Miljanović, Olivera; Ristanović, Momčilo ; Novaković, Ivana V. ; Plaseska-Karanfilska, Dijana; Noveski, Predrag;
Ostojić, Saša; Gršković, Antun; Buretić-Tomljanović, Alena; Peterlin, Borut;
| Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2013 | Genetic Variation in Circadian Rhythm Genes CLOCK and ARNTL as Risk Factor for Male Infertility | Hodžić, Alenka; Ristanović, Momčilo ; Zorn, Branko; Tulić, Cane ; Maver, Aleš; Novaković, Ivana ; Peterlin, Borut | Naučni članak | 21aM21a - Vodeći međunarodni časopis kategorije M21a |
| 2017 | Genetic variation in leptin and leptin receptor genes as a risk factor for idiopathic male infertility | Hodžić, Alenka; Ristanović, Momčilo ; Zorn, Branko; Tulić, Cane ; Maver, Aleš; Novaković, Ivana V. ; Plašeska-Karanfilska, D.; Peterlin, Borut | Naučni članak | 21M21 - Vodeći međunarodni časopis kategorije M21 |
| 2025 | Increased burden of rare variants in GWAS associated genes in familial multiple sclerosis | Turk, Aleksander; Maver, Aleš; Juvan, Peter; Drulović, Jelena S. ; Mesaroš, Šarlota T. ; Novaković, Ivana V. ; Starčević-Čizmarević, Nada; Ristič, Smiljana; Stanković-Matić, Ivana; Peterlin, Borut | Naučni članak | 21M21 - Vodeći međunarodni časopis kategorije M21 |
| 2025 | Increased burden of rare variants in GWAS associated genes in familial multiple sclerosis | Turk, Aleksander; Maver, Aleš; Juvan, Peter; Drulović, Jelena S. ; Mesaroš, Šarlota ; Novaković, Ivana ; Čizmarević, Nada S.; Ristić, Smiljana; Matić, Ivana S.; Peterlin, Borut | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2019 | Increased burden of ultra-rare genetic variants in the inflammasome regulatory genes in patients with multiple sclerosis | Peterlin, Borut; Vidmar, Lovro; Drulović, Jelena S. ; Sepčić, Juraj; Novaković, Ivana V. ; Ristić, Smiljana; Šega-Jazbec, Saša; Maver, Aleš | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2019 | Rare missense TUBGCP5 gene variant in a patient with primary microcephaly | Maver, Aleš; Čuturilo, Goran ; Kovanda, Anja; Miletić, Aleksandra; Peterlin, Borut | Naučni članak | 22M22 - Međunarodni časopis kategorije M22 |
| 2019 | Results of clinical exome analysis in rare neurodegenerative disorders in Serbian population | Branković, Marija ; Dobričić, Valerija ; Maver, Aleš; Bergant, Gaber; Svetel, Marina ; Petrović, Igor ; Perić, Stojan ; Janković, Milena ; Marjanović, Ana ; Stefanova, Elka ;
Novaković, Ivana
; Peterlin, Borut; Kostić, Vladimir ; | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2024 | Reverse Phenotyping after Whole-Exome Sequencing in Children with Developmental Delay/Intellectual Disability-An Exception or a Necessity? | Ilić, Nikola A.; Marić, Nina; Maver, Aleš; Armengol, Lluis; Kravljanac, Ružica M. ; Ćirković, Jana; Krstić, Jovana; Radivojević, Danijela ; Ćirković, Sanja S.; Ostojić, Slavica B.;
Krasić, Staša D.; Paripović, Aleksandra; Vukomanović, Vladislav A.
; Peterlin, Borut; Marić, Gorica D. ; Sarajlija, Adrijan ; | Naučni članak | 22M22 - Međunarodni časopis kategorije M22 |
| 2018 | The burden of rare genetic variants in genes involved in tumor necrosis factor (TNF) signalling pathway in multiple sclerosis (MS) | Peterlin, Ana M.; Maver, Aleš; Hodžić, Alenka; Šega, Saša; Drulović, Jelena S. ; Novaković, Ivana V. ; Pekmezović, Tatjana D. ; Ristić, Smiljana; Kapović, Miljenko; Peterlin, Borut | Konferencijski rad | Mp kategorija će biti prikazana naknadno. |
| 2025 | The role of DNA mismatch repair mutS/mutL homolog genes in spermatogenesis and male infertility: a systematic review and cohort study | Podgrajšek, Rebeka; Hodžić, Alenka; Maver, Aleš; Stimpfel, Martin; Anđelić, Aleksander; Miljanović, Olivera; Ristanović, Momčilo ; Novaković, Ivana ; Plašeska-Karanfilska, Dijana; Noveski, Predrag;
Ostojić, Saša; Buretić-Tomljanović, Alena; Peterlin, Borut;
| Reviews | 21aM21a |