Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Nicole Anteneova"'
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
Autor:
Marketa Tesarova, Pavlina Skalicka, Alice E. Davidson, Nicole Anteneova, Amanda N. Sadan, Monika Chylova, Petra Liskova, Tomas Honzik, Helena Jahnová, Lubica Dudakova
Publikováno v:
Genes
Genes; Volume 12; Issue 12; Pages: 1918
Genes, Vol 12, Iss 1918, p 1918 (2021)
Genes; Volume 12; Issue 12; Pages: 1918
Genes, Vol 12, Iss 1918, p 1918 (2021)
The aim of this study was to describe the ocular phenotype in a case with Kearns-Sayre syndrome (KSS) spectrum and to determine if corneal endothelial cell dysfunction could be attributed to other known distinct genetic causes. Herein, genomic DNA wa