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Št. zadetkov: 5
Primeri dobrih/slabih praks pri izdelavi zemljiškokatastrskih elaboratov glede na zakon o evidentiranju nepremičnin
Tadej Zver, Miran Ferlan, Samo Drobne, Tomaž Ambrožič
Diplomsko delo
Oznake: geodezija;diplomska dela;VSŠ;zemljiški kataster;kataster stavb;geodetske storitve;INSPIRE;
Primeri dobrih/slabih praks pri izdelavi zemljiškokatastrskih elaboratov glede na zakon o evidentiranju nepremičnin
Leto: 2010 Vir: Fakulteta za gradbeništvo in geodezijo (UL FGG)
ǂThe ǂcontemporary approach to CALR-positive myeloproliferative neoplasms
Tanja Belčič Mikič, Tadej Pajič, Samo Zver, Matjaž Sever
Pregledni znanstveni članek
Oznake: kalcij;mieloproliferativne neoplazme;diagnostika;trombocitemija;umetna inteeligenca;calreticulin;chaperone;calcium;myeloproliferative neoplasm;diagnostics;thrombocythemia;artificial intelligence;
CALR mutations are a revolutionary discovery and represent an important hallmark of myeloproliferative neoplasms (MPN), especially essential thrombocythemia and primary myelofibrosis. To date, several CALR mutations were identified, with only frameshift mutations linked to the diseased phenotype. It ...
Leto: 2021 Vir: Medicinska fakulteta (UL MF)
Is it possible to predict clonal thrombocytosis in triple-negative patients with isolated thrombocytosis based only on clinical or blood findings?
Tanja Belčič Mikič, Bor Vratanar, Tadej Pajič, Saša Anžej, Nataša Debeljak, Irena Preložnik-Zupan, Matjaž Sever, Samo Zver
Izvirni znanstveni članek
Oznake: klonska trombocitoza;esencialna trombocitemija;laktat dehidrogenaza;clonal thrombocytosis;essential thrombocythaemia;lactate dehydrogenase;
JAK2, MPL, and CALR mutations define clonal thrombocytosis in about 90% of patients with sustained isolated thrombocytosis. In the remainder of patients (triple-negative patients) diagnosing clonal thrombocytosis is especially difficult due to the different underlying conditions and possible inconcl ...
Leto: 2021 Vir: Medicinska fakulteta (UL MF)
Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review
Katarina Štajer, Neja Kovač, Jaka Šikonja, Matej Mlinarič, Sara Bertok, Jernej Brecelj, Maruša Debeljak, Jernej Kovač, Gašper Markelj, David Neubauer, Rina Rus, Mojca Žerjav-Tanšek, Ana Drole Torkar, Aleksandra Zver, Tadej Battelino, Rosa Jiménez Torres, Urh Grošelj
Pregledni znanstveni članek
Oznake: Phosphoribosylpyrophosphate synthetase 1;PRPS1;PRS-I super-activity;PRS-I deficiency;Arts syndrome;X-linked Charcot-Marie-Tooth neuropathy type 5;
Phosphoribosyl pyrophosphate synthetase 1 (PRS–I) is an enzyme involved in nucleotide metabolism. Pathogenic variants in the PRPS1 are rare and PRS-I deficiency can manifest as three clinical syndromes: X-linked nonsyndromic sensorineural deafness (DFN2), X-linked Charcot-Marie-Tooth neuropathy type ...
Leto: 2023 Vir: Medicinska fakulteta (UL MF)
Gene therapy of rare diseases as a milestone in medicine
Urh Grošelj, Marko Kavčič, Ana Drole Torkar, Jan Kafol, Duško Lainšček, Roman Jerala, Matjaž Sever, Samo Zver, Gregor Serša, Maja Čemažar, Primož Strojan, Aleš Grošelj, Mojca Žerjav-Tanšek, Špela Križanec, Simona Ivančan, Tomaž Prelog, David Gosar, Jasna Oražem, Matej Mlinarič, Sara Bertok, Jernej Kovač, Jana Kodrič, Saba Battelino, Marko Pokorn, Alojz Ihan, Janez Jazbec, Tadej Battelino, Damjan Osredkar
Pregledni znanstveni članek
Oznake: gene therapy;rare genetic diseases;Slovenia;CAR-T cells;cancer;immune gene therapy;
Gene therapy has transitioned from a long-awaited promise to a clinical reality, offering transformative treatments for rare congenital diseases and certain cancers, which have a significant impact on patients’ lives. Current approaches focus on gene replacement therapy, either in vivo or ex vivo, m ...
Leto: 2025 Vir: Kemijski inštitut (KI)
Št. zadetkov: 5
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