Zobrazeno 1 - 10
of 87
pro vyhledávání: '"Jernej, Kovač"'
Publikováno v:
Slovenska pediatrija, Vol 31, Iss 2, Pp 77-84 (2024)
Presejalno testiranje novorojenčkov (PTN) je ena svetovnih javnozdravstvenih zgodb o uspehu. Izvaja se v veliki večini razvitih držav sveta, razlikuje pa se le po obsegu in usmeritvah testiranja. Najbolj obsežni programi presejalnega testiranja n
Externí odkaz:
https://doaj.org/article/f03a6504629740fc92c0d30298914e7c
Publikováno v:
Slovenska pediatrija, Vol 31, Iss 2, Pp 77-84 (2024)
Newborn Screening (NBS) is one of the most significant and successful public health initiatives globally. Implemented in various capacities across most developed countries, NBS programs vary in scope and focus, with the most comprehensive screening f
Externí odkaz:
https://doaj.org/article/dd4a15bb232747c89bea1b84ec3ad413
Autor:
Barbara Čugalj Kern, Jernej Kovač, Robert Šket, Tine Tesovnik, Barbara Jenko Bizjan, Julia Galhardo, Tadej Battelino, Nataša Bratina, Klemen Dovč
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
BackgroundProlonged hyperglycemia causes diabetes-related micro- and macrovascular complications, which combined represent a significant burden for individuals living with diabetes. The growing scope of evidence indicates that hyperglycemia affects t
Externí odkaz:
https://doaj.org/article/edaa266abb284f03ba443fe9567fa8f6
Autor:
Klementina Črepinšek, Nika Klobučar, Tine Tesovnik, Robert Šket, Barbara Jenko Bizjan, Jernej Kovač, Marko Kavčič, Tomaž Prelog, Lidija Kitanovski, Janez Jazbec, Maruša Debeljak
Publikováno v:
Cancers, Vol 16, Iss 6, p 1164 (2024)
In this study, we aimed to identify patients within our B-ALL cohort with altered PAX5. Our objective was to use a comprehensive analysis approach to characterize the types of genetic changes, determine their origin (somatic/germline), and analyze th
Externí odkaz:
https://doaj.org/article/33e7d71e327844b0813a697d7174f83b
Autor:
Eva Hršak, Jernej Kovač
Publikováno v:
The Person and the Challenges. The Journal of Theology, Education, Canon Law and Social Studies Inspired by Pope John Paul II, Vol 13, Iss 2 (2023)
This article investigates the historical aspects of physical violence in intimate relationships. The primary purpose is to illustrate the legal aspects and emotional dynamics of physical violence in intimate relationships, focusing on differences in
Externí odkaz:
https://doaj.org/article/a3e3ba81704c495088a15e06e068b075
Autor:
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
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100986- (2023)
Phosphoribosylpyrophosphate synthetase 1 (PRSI) 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 non-syndromic sensorineural deafness (DF
Externí odkaz:
https://doaj.org/article/50a4fddc3e394652a0dc8f01a9ee15fc
Autor:
Simona Lucija Avčin, Klementina Črepinšek, Barbara Jenko Bizjan, Robert Šket, Jernej Kovač, Blaž Vrhovšek, Jerca Blazina, Olga Blatnik, Robert Kordič, Lidija Kitanovski, Janez Jazbec, Maruša Debeljak, Tine Tesovnik
Publikováno v:
Cancers, Vol 15, Iss 15, p 3846 (2023)
Our study aimed to identify relevant transcriptomic biomarkers for the Wilms tumor, the most common pediatric kidney cancer, independent of the histological type and stage. Using next-generation sequencing, we analyzed the miRNA profiles of 74 kidney
Externí odkaz:
https://doaj.org/article/1614ec85f2254aa08e69a91b308e27d6
Focused peptide library screening as a route to a superior affinity ligand for antibody purification
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Abstract Affinity chromatography is the linchpin of antibody downstream processing and typically relies on bacterial immunoglobulin (Ig)-binding proteins, epitomized by staphylococcal protein A-based ligands. However, such affinity ligands are fairly
Externí odkaz:
https://doaj.org/article/034316d8ed774a0db32666981738785c
Autor:
Robert Šket, Primož Kotnik, Barbara Jenko Bizjan, Valentina Kocen, Matej Mlinarič, Tine Tesovnik, Maruša Debeljak, Tadej Battelino, Jernej Kovač
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
Monogenic obesity is a severe, genetically determined disorder that affects up to 1/1000 newborns. Recent reports on potential new therapeutics and innovative clinical approaches have highlighted the need for early identification of individuals with
Externí odkaz:
https://doaj.org/article/0d0e7007cc5d472da0e8a282bb347ecc
Autor:
Anja Štangar, Jernej Kovač, Robert Šket, Tine Tesovnik, Ana Zajec, Barbara Čugalj Kern, Barbara Jenko Bizjan, Tadej Battelino, Klemen Dovč
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 4, p 3104 (2023)
Type 1 diabetes (T1D) is one of the most common chronic diseases of the endocrine system, associated with several life-threatening comorbidities. While the etiopathogenesis of T1D remains elusive, a combination of genetic susceptibility and environme
Externí odkaz:
https://doaj.org/article/8fb4d7b3f8584ce9913ddc1062cdc7a4