Hasil Pencarian - Petra Liskova
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Replication of SNP associations with keratoconus in a Czech cohort. oleh Petra Liskova, Lubica Dudakova, Anna Krepelova, Jiri Klema, Pirro G Hysi
Diterbitkan 2017-01-01
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Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene oleh Cerys J. Evans, Lubica Dudakova, Pavlina Skalicka, Gabriela Mahelkova, Ales Horinek, Alison J. Hardcastle, Stephen J. Tuft, Petra Liskova
Diterbitkan 2018-09-01
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Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes oleh Tereza Rákosníková, Silvie Kelifová, Hana Štufková, Kateřina Lokvencová, Petra Lišková, Bohdan Kousal, Tomáš Honzík, Hana Hansíková, Václav Martínek, Markéta Tesařová
Diterbitkan 2023-05-01
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Leber hereditary optic neuropathy in Czechia and Slovakia: Quality of life and costs from patient perspective oleh Beáta Bušányová, Marie Vajter, Silvie Kelifová, Petra Lišková, Hedviga Miková, Katarína Breciková, Ján Žigmond, Vladimír Rogalewicz, Aleš Tichopád, Martin Višňanský, Ivana Šarkanová
Diterbitkan 2024-06-01
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Disease-Causing <i>TIMP3</i> Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation oleh Andrea Vergaro, Monika Pankievic, Jana Jedlickova, Lubica Dudakova, Marie Vajter, Michel Michaelides, Martin Meliska, Pavel Nemec, Daniela Babincova, Bohdan Kousal, Petra Liskova
Diterbitkan 2024-03-01
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Light-responsive microRNA molecules in human retinal organoids are differentially regulated by distinct wavelengths of light oleh Canan Celiker, Kamila Weissova, Katerina Amruz Cerna, Jan Oppelt, Birthe Dorgau, Francisco Molina Gambin, Jana Sebestikova, Majlinda Lako, Evelyne Sernagor, Petra Liskova, Tomas Barta
Diterbitkan 2023-07-01
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The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions oleh Nicole Anteneová, Silvie Kelifová, Hana Kolářová, Alžběta Vondráčková, Iveta Tóthová, Petra Lišková, Martin Magner, Josef Zámečník, Hana Hansíková, Jiří Zeman, Markéta Tesařová, Tomáš Honzík
Diterbitkan 2020-10-01
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High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation. oleh Petra Liskova, Rhian Gwilliam, Martin Filipec, Katerina Jirsova, Stanislava Reinstein Merjava, Panos Deloukas, Tom R Webb, Shomi S Bhattacharya, Neil D Ebenezer, Alex G Morris, Alison J Hardcastle
Diterbitkan 2012-01-01
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Dysfunction of peripheral somatic and autonomic nervous system in patients with severe forms of Crohn's disease on biological therapy with TNFα inhibitors-A single center study. oleh Martin Wasserbauer, Sarka Mala, Katerina Stechova, Stepan Hlava, Pavlina Cernikova, Jan Stovicek, Jiri Drabek, Jan Broz, Dita Pichlerova, Barbora Kucerova, Petra Liskova, Jan Kral, Lucia Bartuskova, Radan Keil
Diterbitkan 2023-01-01
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Dysfunction of peripheral somatic and autonomic nervous system in patients with severe forms of Crohn’s disease on biological therapy with TNFα inhibitors–A single center study... oleh Martin Wasserbauer, Sarka Mala, Katerina Stechova, Stepan Hlava, Pavlina Cernikova, Jan Stovicek, Jiri Drabek, Jan Broz, Dita Pichlerova, Barbora Kucerova, Petra Liskova, Jan Kral, Lucia Bartuskova, Radan Keil
Diterbitkan 2023-01-01
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Myxovirus Resistance Protein A mRNA Expression Kinetics in Multiple Sclerosis Patients Treated with IFNβ. oleh Jana Libertinova, Eva Meluzinova, Ales Tomek, Dana Horakova, Ivana Kovarova, Vaclav Matoska, Simona Kumstyrova, Miroslav Zajac, Eva Hyncicova, Petra Liskova, Eva Houzvickova, Lukas Martinkovic, Martin Bojar, Eva Havrdova, Petr Marusic
Diterbitkan 2017-01-01
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Machine Learning Algorithms to Detect Subclinical Keratoconus: Systematic Review oleh Howard Maile, Ji-Peng Olivia Li, Daniel Gore, Marcello Leucci, Padraig Mulholland, Scott Hau, Anita Szabo, Ismail Moghul, Konstantinos Balaskas, Kaoru Fujinami, Pirro Hysi, Alice Davidson, Petra Liskova, Alison Hardcastle, Stephen Tuft, Nikolas Pontikos
Diterbitkan 2021-12-01
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The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement oleh Graeme C. Black, Panagiotis Sergouniotis, Andrea Sodi, Bart P. Leroy, Caroline Van Cauwenbergh, Petra Liskova, Karen Grønskov, Artur Klett, Susanne Kohl, Gita Taurina, Marius Sukys, Lonneke Haer-Wigman, Katarzyna Nowomiejska, João Pedro Marques, Dorothée Leroux, Frans P. M. Cremers, Elfride De Baere, Hélène Dollfus, ERN-EYE study group
Diterbitkan 2021-03-01
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Tissue-specific TCF4 triplet repeat instability revealed by optical genome mappingResearch in context oleh Christina Zarouchlioti, Stephanie Efthymiou, Stefano Facchini, Natalia Dominik, Nihar Bhattacharyya, Siyin Liu, Marcos Abreu Costa, Anita Szabo, Amanda N. Sadan, Albert S. Jun, Enrico Bugiardini, Henry Houlden, Andrea Cortese, Pavlina Skalicka, Lubica Dudakova, Kirithika Muthusamy, Michael E. Cheetham, Alison J. Hardcastle, Petra Liskova, Stephen J. Tuft, Alice E. Davidson
Diterbitkan 2024-10-01
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Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability oleh Zelia Corradi, Mubeen Khan, Rebekkah Hitti-Malin, Ketan Mishra, Laura Whelan, Stéphanie S. Cornelis, Carel B. Hoyng, Kati Kämpjärvi, Caroline C.W. Klaver, Petra Liskova, Heidi Stöhr, Bernhard H.F. Weber, Sandro Banfi, G. Jane Farrar, Dror Sharon, Jana Zernant, Rando Allikmets, Claire-Marie Dhaenens, Frans P.M. Cremers
Diterbitkan 2023-10-01
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