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Meeting Abstract (3)
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Investigative Ophthalmology & Visual Science (4)

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ARVO Annual Meeting Abstract (3)
Genetics (1)

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Cornea (1)
Eye Anatomy and Disorders (1)
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biological models (1)
cornea (1)
endothelium (1)
heterogeneous nuclear rna (1)
mutation (1)
proband (1)
rna splicing (1)

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Genetics July 2019

IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing

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Kristyna Brejchova; Lubica Dudakova; Pavlina Skalicka; Robert Dobrovolny; Petr Masek; Martina Putzova; Mariya Moosajee; Stephen J. Tuft; Alice E. Davidson; Petra Liskova
TAGS: biological models, cornea, endothelium, heterogeneous nuclear rna, rna splicing, proband, mutation
Invest. Ophthalmol. Vis. Sci.. 2019; 60(8):3084-3090. doi: https://doi.org/10.1167/iovs.19-26930

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ARVO Annual Meeting Abstract July 2018

Molecular genetic investigation of two distinct monogenic disorders with ocular involvement in a large consanguineous Roma family

Lubica Dudakova; Pavlina Skalicka; Petra Liskova

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):328. doi:

ARVO Annual Meeting Abstract July 2018

Five novel ZEB1 mutations including a 0.34 Mb deletion detected by whole genome sequencing in patients with posterior polymorphous corneal dystrophy type 3

Petra Liskova; Lubica Dudakova; Cerys J. Evans; Pavlina Skalicka; Nikolas Pontikos; Ales Horinek; Tomas Kubena; Alice Davidson; Alison J Hardcastle; Stephen J. Tuft

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2917. doi:

ARVO Annual Meeting Abstract July 2018

RNA toxicity induced by TCF4 CTG expansions is ameliorated by antisense therapeutics in a patient-derived cell model of Fuchs corneal endothelial dystrophy (FECD).

Alice E Davidson; Christina Zarouchlioti; Beatriz Sanchez-Pintado; Nathaniel Hafford Tear; Pontus Klein; Petra Liskova; Kalyan Dulla; Kirithika Muthusamy; Lubica Dudakova; Pavlina Skalicka; Pirro G Hysi; Michael E. Cheetham; Stephen J. Tuft; Peter S Adamson; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3022. doi:

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Online ISSN: 1552-5783

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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Copyright © 2015 Association for Research in Vision and Ophthalmology.

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