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Meeting Abstract (6)
Journal Articles (2)

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Investigative Ophthalmology & Visual Science (7)
Translational Vision Science & Technology (1)

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ARVO Annual Meeting Abstract (6)
Articles (1)
Retina (1)

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Genetics (2)
Retina (2)
Eye Anatomy and Disorders (1)
Translational Research (1)

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mutation (2)
cohort studies (1)
electroretinography (1)
eye (1)
genes (1)
german (1)
heterozygote (1)
illness length (1)
phenotype (1)
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Articles December 2019

Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by CRB1 Mutations

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Krunoslav T. Stingl; Laura Kuehlewein; Nicole Weisschuh; Saskia Biskup; Frans P. M. Cremers; M. Imran Khan; Carina Kelbsch; Tobias Peters; Marius Ueffing; Barbara Wilhelm; Eberhart Zrenner; Katarina Stingl
TAGS: eye, illness length, mutation, pupil reaction, retinitis pigmentosa
Trans. Vis. Sci. Tech.. 2019; 8(6):45. doi: https://doi.org/10.1167/tvst.8.6.45

Retina June 2018

Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort

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Ditta Zobor; Gergely Zobor; Stephanie Hipp; Britta Baumann; Nicole Weisschuh; Saskia Biskup; Ieva Sliesoraityte; Eberhart Zrenner; Susanne Kohl
TAGS: cohort studies, genes, german, mutation, phenotype, spectral domain-optical coherence tomography, heterozygote, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2018; 59(7):3041-3052. doi: https://doi.org/10.1167/iovs.18-24033

ARVO Annual Meeting Abstract June 2017

Whole exome sequencing towards a rapid identification of genetic variants associated with congenital nystagmus.

Marta Owczarek-Lipska; Christoph Jüschke; Lejla Mulahasanovic; Konstanze Hörtnagel; Saskia Biskup; Tobias Linden; Christoph G. Korenke; John Per Neidhardt

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2785. doi:

ARVO Annual Meeting Abstract June 2015

Unusual genetic findings in 900 patients clinically diagnosed with hereditary retinal dystrophies

Nicola Gloeckle; Susanne Kohl; Julia Mohr; Kathrin Bengesser; Tim Scheurenbrand; Andrea Sprecher; Konstanze Hoertnagel; Bernd Wissinger; Saskia Biskup; CeGaT senders

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1244. doi:

ARVO Annual Meeting Abstract April 2014

Mutation screening in patients with retinal dystrophies using a Panel-based Next Generation Sequencing approach

Nicole Weisschuh; Anja-Kathrin Mayer; Nicola Gloeckle; Susanne Kohl; Saskia Biskup; Bernd Wissinger

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3268. doi:

ARVO Annual Meeting Abstract April 2014

Genetic testing in patients with inherited retinal dystrophies using panel-based next generation sequencing

Susanne Kohl; Antje S Bernd; Nicola Gloeckle; Julia Mohr; Eberhart Zrenner; Bernd Wissinger; Saskia Biskup

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3294. doi:

ARVO Annual Meeting Abstract June 2013

Highly efficient genetic diagnostic testing in patients with inherited retinal dystrophies using Panel-based Next Generation Sequencing

Nicola Gloeckle; Susanne Kohl; Julia Mohr; Tim Scheurenbrand; Andrea Sprecher; Saskia Biskup; Wolfgang Berger; Bernd Wissinger; John Neidhardt

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):3369. doi:

ARVO Annual Meeting Abstract April 2011

Next Generation Genetic Testing And Candidate Gene Analysis In Retinal Diseases

Wolfgang Berger; Detlev Boehm; Saskia Biskup; Susanne Kohl; Simone Schimpf-Linzenbold; Bernd Wissinger; John Neidhardt

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):1829. doi:

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Online ISSN: 2164-2591

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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