Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Iveta Tóthová"'
Autor:
Nicole Anteneová, Silvie Kelifová, Hana Kolářová, Alžběta Vondráčková, Iveta Tóthová, Petra Lišková, Martin Magner, Josef Zámečník, Hana Hansíková, Jiří Zeman, Markéta Tesařová, Tomáš Honzík
Publikováno v:
Brain Sciences, Vol 10, Iss 11, p 766 (2020)
Background: In this retrospective study, we analysed clinical, biochemical and molecular genetic data of 47 Czech patients with Single, Large-Scale Mitochondrial DNA Deletions (SLSMD). Methods: The diagnosis was based on the long-range PCR (LX-PCR) s
Externí odkaz:
https://doaj.org/article/5db9b81a11174564a65e194fbf95df6c
Publikováno v:
Journal of Environmental Engineering and Landscape Management, Vol 15, Iss 2 (2007)
The aim of the research paper is simulation by the Global Model on the basis of investigation of Slovak Agricultural University (SAU) on two localities (Kolínany and Malanta). The soil moisture was measured by a time domain transmissometry instrumen
Externí odkaz:
https://doaj.org/article/6bc60437613e41d8853b7d855b47ee7d
Autor:
Sarah L. Stenton, Marketa Tesarova, Natalia L. Sheremet, Claudia B. Catarino, Valerio Carelli, Elżbieta Ciara, Kathryn Curry, Martin Engvall, Leah R. Fleming, Peter Freisinger, Katarzyna Iwanicka-Pronicka, Elżbieta Jurkiewicz, Thomas Klopstock, Mary K. Koenig, Hana Kolářová, Bohdan Kousal, Tatiana Krylova, Chiara La Morgia, Lenka Nosková, Dorota Piekutowska-Abramczuk, Sam N. Russo, Viktor Stránecký, Iveta Tóthová, Frank Träisk, Holger Prokisch
Publikováno v:
Brain 145, 1624-1631 (2022)
Brain 145(5), 1624-1631 (2022). doi:10.1093/brain/awac052
Brain 145(5), 1624-1631 (2022). doi:10.1093/brain/awac052
The recent description of biallelic DNAJC30 variants in Leber hereditary optic neuropathy (LHON) and Leigh syndrome challenged the longstanding assumption for LHON to be exclusively maternally inherited and broadened the genetic spectrum of Leigh syn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2bf87daded9ca23e3b2756c60479a76
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=64376
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=64376
The Roma (Gypsies) is a transnational minority with a high degree of consanguineous marriages. Similar to other genetically isolated founder populations, the Roma harbor a number of unique or rare genetic disorders. This paper discusses about a rare
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b99bea70744a6915dcccb2b5fb5298fc
Autor:
Niklas Dahl, Doroteya Raykova, Iveta Tóthová, Joakim Klar, Alkwin Wanders, Elisabet Gustafson, Adam Ameur
Publikováno v:
European journal of human genetics : EJHG. 23(12)
Familial visceral myopathy (FVM) is a rare heritable and heterogeneous condition due to impaired smooth muscle function. We identified a family segregating 11 individuals with a spectrum of visceral symptoms involving the small intestine, colon, bili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dcd1694df3d7da709d87737d2d98287
https://pubmed.ncbi.nlm.nih.gov/25782675
https://pubmed.ncbi.nlm.nih.gov/25782675