Search results
- 1.0585142 - ÚMG 2025 RIV DE eng J - Journal Article
Schwarz, M. - Gazdarica, Matej - Froňková, E. - Svatoň, M. - Bronský, J. - Havlovicová, M. - Křepelová, A. - Macek, M.
Functional studies associate novel DUOX2 gene variants detected in heterozygosity to Crohn’s disease.
Molecular Biology Reports. Roč. 51, č. 1 (2024), č. článku 399. ISSN 0301-4851. E-ISSN 1573-4978
Institutional support: RVO:68378050
Keywords : Crohn’s Disease * duox2 * Massive parallel sequencing * Whole exome sequencing
OECD category: Biochemistry and molecular biology
Impact factor: 2.8, year: 2022
Method of publishing: Limited access
https://link.springer.com/article/10.1007/s11033-024-09317-8
Permanent Link: https://hdl.handle.net/11104/0352878 - 2.0583694 - ÚMG 2025 GB eng J - Journal Article
Kvapilová, K. - Misenko, P. - Radvanszky, J. - Brzon, O. - Budis, J. - Gazdarica, J. - Pos, O. - Korabecna, M. - Kašný, M. - Szemes, T. - Kvapil, P. - Pačes, Jan - Kozmik, Zbyněk
Validated WGS and WES protocols proved saliva-derived gDNA as an equivalent to blood-derived gDNA for clinical and population genomic analyses.
BMC Genomics. Roč. 25, č. 1 (2024), č. článku 187. ISSN 1471-2164. E-ISSN 1471-2164
Institutional support: RVO:68378050
Keywords : Genomics variant analysis * Saliva-derived gDNA * Whole genome sequencing * Whole exome sequencing * Validation guideline
OECD category: Biochemistry and molecular biology
Impact factor: 4.4, year: 2022
Method of publishing: Open access
https://bmcgenomics.biomedcentral.com/articles/10.1186/s12864-024-10080-0
Permanent Link: https://hdl.handle.net/11104/0352871 - 3.0524742 - FGÚ 2021 RIV CH eng J - Journal Article
Kubánek, M. - Schimerová, T. - Piherová, L. - Brodehl, A. - Krebsová, A. - Ratnavadivel, S. - Stanasiuk, C. - Hansíková, H. - Zeman, J. - Paleček, T. - Houštěk, Josef - Drahota, Zdeněk - Nůsková, Hana - Mikešová, Jana - Zámečník, J. - Macek Jr., M. - Ridzoň, P. - Malusková, J. - Stránecký, V. - Melenovský, V. - Milting, H. - Kmoch, S.
Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction.
Journal of Clinical Medicine. Roč. 9, č. 4 (2020), č. článku 937. E-ISSN 2077-0383
R&D Projects: GA MZd(CZ) NV17-28784A
Institutional support: RVO:67985823
Keywords : desmin * dilated cardiomyopathy * mitochondrial dysfunction * myopathy * non-ischemic cardiomyopathy * whole exome sequencing
OECD category: Cardiac and Cardiovascular systems
Impact factor: 4.242, year: 2020
Method of publishing: Open access
https://www.mdpi.com/2077-0383/9/4/937
Permanent Link: http://hdl.handle.net/11104/0309045