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retinitis-pigmentosa
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publication
Retinitis Pigmentosa Mimicking Uveitis .A Case Report
2013 |
First Faculty of Medicine
publication
Clinical Findings in Members of a Czech Family with Retinitis Pigmentosa Caused by the c.2426_2427delAG Mutation in RPGR
2013 |
Faculty of Medicine in Hradec Králové, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Molecular genetic cause of X-linked retinitis pigmentosa in a Czech family
2011 |
First Faculty of Medicine
publication
Retinitis pigmentosa
2003 |
First Faculty of Medicine
publication
Where we are going in therapy of rhetinitis pigmentosa
Publication without faculty affiliation
publication
See the world through the tunnell
2019 |
Faculty of Education
publication
Case 15
+1
2008 |
Faculty of Medicine in Hradec Králové
publication
Case 15
2008 |
First Faculty of Medicine
publication
Retinitis pigmentosa-linked mutation in DHX38 modulates its splicing activity
2022 |
Faculty of Science, Central Library of Charles University
publication
Assembly of the U5 snRNP component PRPF8 is controlled by the HSP90/R2TP chaperones
2017 |
Faculty of Science
publication
Severe retinal degeneration in women with a c .2543del mutation in ORF15 of the RPGR gene
2014 |
First Faculty of Medicine
publication
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
2023 |
First Faculty of Medicine
publication
Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure
2009 |
First Faculty of Medicine
publication
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus
2022 |
First Faculty of Medicine
publication
Visualization of automatically combined disease maps and pathway diagrams for rare diseases
2023 |
Faculty of Mathematics and Physics
publication
Perspectives of Stem Cell-Based Therapy for Age-Related Retinal Degenerative Diseases
2017 |
Faculty of Science
publication
Mesenchymal Stem Cell-Based Therapy for Retinal Degenerative Diseases: Experimental Models and Clinical Trials
2021 |
Faculty of Science
publication
Cytokine interplay among the diseased retina, inflammatory cells and mesenchymal stem cells - a clue to stem cell-based therapy
2019 |
Faculty of Science
publication
Structural basis of heterotetrameric assembly and disease mutations in the human cis-prenyltransferase complex
2020 |
Faculty of Science, Central Library of Charles University
publication
The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement
2021 |
Publication without faculty affiliation