Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Werner Krampl"'
Autor:
Tomáš Sládeček, Michaela Gažiová, Marcel Kucharík, Andrea Zaťková, Zuzana Pös, Ondrej Pös, Werner Krampl, Erika Tomková, Michaela Hýblová, Gabriel Minárik, Ján Radvánszky, Jaroslav Budiš, Tomáš Szemes
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract Clinical interpretation of copy number variants (CNVs) is a complex process that requires skilled clinical professionals. General recommendations have been recently released to guide the CNV interpretation based on predefined criteria to uni
Externí odkaz:
https://doaj.org/article/669e2d0d78c04bf7beeae744c9539f70
Autor:
Diana Rusňáková, Tatiana Sedláčková, Peter Radvák, Miroslav Böhmer, Pavol Mišenko, Jaroslav Budiš, Silvia Bokorová, Nikola Lipková, Michaela Forgáčová-Jakúbková, Tomáš Sládeček, Jozef Sitarčík, Werner Krampl, Michaela Gažiová, Anna Kaliňáková, Edita Staroňová, Elena Tichá, Terézia Vrábľová, Lucia Ševčíková, Barbora Kotvasová, Lucia Maďarová, Soňa Feiková, Kristína Beňová, Lenka Reizigová, Zuzana Onderková, Dorota Ondrušková, Dušan Loderer, Mária Škereňová, Zuzana Danková, Katarína Janíková, Erika Halašová, Elena Nováková, Ján Turňa, Tomáš Szemes
Publikováno v:
Viruses, Vol 14, Iss 11, p 2432 (2022)
To explore a genomic pool of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) during the pandemic, the Ministry of Health of the Slovak Republic formed a genomics surveillance workgroup, and the Public Health Authority of the Slovak Repub
Externí odkaz:
https://doaj.org/article/0bd8302066c847898db038285b7048e7
Autor:
Tomáš Sládeček, Michaela Gažiová, Marcel Kucharík, Andrea Zaťková, Zuzana Pös, Ondrej Pös, Werner Krampl, Erika Tomková, Michaela Hýblová, Gabriel Minárik, Ján Radvanszky, Jaroslav Budiš, Tomáš Szemes
Clinical interpretation of copy number variants (CNVs) is a complex process that requires skilled clinical professionals. General recommendations have been recently released to guide the CNV interpretation based on predefined criteria to uniform the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a1f4bed49e24fb1780953e3a10c74fdb
https://doi.org/10.1101/2022.12.23.521405
https://doi.org/10.1101/2022.12.23.521405
Autor:
Jozef Sitarčík, Tomáš Vinař, Broňa Brejová, Werner Krampl, Jaroslav Budiš, Ján Radvánszky, Mária Lucká
MotivationShort tandem repeats (STRs) are regions of a genome containing many consecutive copies of the same short motif, possibly with small variations. Analysis of STRs has many clinical uses, but is limited by technology mainly due to STRs surpass
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c3ce61ad442e789e4629bf81bf03f123
https://doi.org/10.1101/2022.11.05.515275
https://doi.org/10.1101/2022.11.05.515275
Autor:
Beáta Soltész, Ondrej Pös, Zuzana Wlachovska, Jaroslav Budis, Rastislav Hekel, Lucia Strieskova, Jana Bozenka Liptak, Werner Krampl, Jakub Styk, Nikolett Németh, Judit Sz Keserű, Adrienn Jenei, Gergely Buglyó, Álmos Klekner, Bálint Nagy, Tomas Szemes
Publikováno v:
Molecular and cellular probes. 66
Glioblastoma is the most common malignant tumor of the central nervous system (CNS) in adults. Glioblastoma cells show increased glucose consumption associated with poor prognosis. Since mitochondria play a crucial role in energy metabolism, mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::536a5a92dd2b887521a88260e7695cb5
https://pubmed.ncbi.nlm.nih.gov/36379303
https://pubmed.ncbi.nlm.nih.gov/36379303
Autor:
Michaela Gaziova, Tomas Sladecek, Ondrej Pos, Martin Stevko, Werner Krampl, Zuzana Pos, Rastislav Hekel, Mario Hlavacka, Marcel Kucharik, Jan Radvanszky, Jaroslav Budis, Tomas Szemes
Publikováno v:
UnpayWall
ORCID
Microsoft Academic Graph
DOAJ-Articles
PubMed Central
Europe PubMed Central
Scientific Reports
Scientific Reports, Vol 12, Iss 1, Pp 1-14 (2022)
ORCID
Microsoft Academic Graph
DOAJ-Articles
PubMed Central
Europe PubMed Central
Scientific Reports
Scientific Reports, Vol 12, Iss 1, Pp 1-14 (2022)
Introduction: Copy number variants (CNVs) play an important role in many biological processes, including the development of genetic diseases, making them attractive targets for genetic analyses. The interpretation of the effect of structural variants
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1e38cde09a50f444ce2eb9aca8ebcfe
Autor:
Goga, A., Böhmer, M., Hekel, R., Werner Krampl, Brejová, B., Vinař, T., Budiš, J., Szemes, T.
Publikováno v:
Scopus-Elsevier
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::264808e5773b259e278fe61c2c20cc6f
http://www.scopus.com/inward/record.url?eid=2-s2.0-85116677030&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-85116677030&partnerID=MN8TOARS