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Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
Di Donato N, Neuhann T, Kahlert AK, Klink B, Hackmann K, Neuhann I, Novotna B, Schallner J, Krause C, Glass IA, Parnell SE, Benet-Pages A, Nissen AM, Berger W, Altmüller J, Thiele H, Weber BH, Schrock E, Dobyns WB, Bier A, Rump A. Di Donato N, et al. Among authors: novotna b. J Med Genet. 2016 Jun;53(6):419-25. doi: 10.1136/jmedgenet-2015-103511. Epub 2016 Feb 3. J Med Genet. 2016. PMID: 26843489
CXCL13 as a biomarker in the diagnostics of European lyme Neuroborreliosis - A prospective multicentre study in Austria.
Waiß C, Ströbele B, Graichen U, Klee S, Gartlehner J, Sonntagbauer E, Hirschbichler S, Tinchon A, Kacar E, Wuchty B, Novotna B, Kühn Z, Sellner J, Struhal W, Bancher C, Schnider P, Asenbaum-Nan S, Oberndorfer S. Waiß C, et al. Among authors: novotna b. J Cent Nerv Syst Dis. 2024 May 2;16:11795735241247026. doi: 10.1177/11795735241247026. eCollection 2024. J Cent Nerv Syst Dis. 2024. PMID: 38706882 Free PMC article.
Prognostic Properties of the GOLD 2023 Classification System.
Brat K, Svoboda M, Zatloukal J, Plutinsky M, Volakova E, Popelkova P, Novotna B, Dvorak T, Koblizek V. Brat K, et al. Among authors: novotna b. Int J Chron Obstruct Pulmon Dis. 2023 Apr 20;18:661-667. doi: 10.2147/COPD.S410372. eCollection 2023. Int J Chron Obstruct Pulmon Dis. 2023. PMID: 37114105 Free PMC article.
Self-Reported Overall Adherence and Correct Inhalation Technique Discordance in Chronic Obstructive Pulmonary Disease Population.
Hendrychova T, Svoboda M, Maly J, Vlcek J, Zimcikova E, Dvorak T, Zatloukal J, Volakova E, Plutinsky M, Brat K, Popelkova P, Kopecky M, Novotna B, Koblizek V. Hendrychova T, et al. Among authors: novotna b. Front Pharmacol. 2022 Aug 12;13:860270. doi: 10.3389/fphar.2022.860270. eCollection 2022. Front Pharmacol. 2022. PMID: 36034870 Free PMC article.
Enzymatic Synthesis of 3'-5', 3'-5' Cyclic Dinucleotides, Their Binding Properties to the Stimulator of Interferon Genes Adaptor Protein, and Structure/Activity Correlations.
Novotná B, Holá L, Staś M, Gutten O, Smola M, Zavřel M, Vavřina Z, Buděšínský M, Liboska R, Chevrier F, Dobiaš J, Boura E, Rulíšek L, Birkuš G. Novotná B, et al. Biochemistry. 2021 Dec 7;60(48):3714-3727. doi: 10.1021/acs.biochem.1c00692. Epub 2021 Nov 17. Biochemistry. 2021. PMID: 34788017
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