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Journal Articles (4)
Meeting Abstract (3)

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Investigative Ophthalmology & Visual Science (7)

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Retina (4)
ARVO Annual Meeting Abstract (3)

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Genetics (4)
Retina (4)
Eye Anatomy and Disorders (2)
Visual Psychophysics and Physiological Optics (1)

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mutation (3)
electroretinography (2)
phenotype (2)
retinal degeneration (2)
retinitis pigmentosa (2)
arginine (1)
child (1)
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family (1)
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ARVO Annual Meeting Abstract June 2013

High-coverage next-generation sequencing (NGS) for retinal dystrophies and Usher syndrome: High diagnostic yield, CNV detection, novel disease mechanisms and therapy targets

Hanno Bolz; Christine Neuhaus; Markus Preising; Arif Khan; Martin Gliem; Peter Charbel Issa; Uwe Wolfrum; Andreas Gal; Birgit Lorenz; Tobias Eisenberger

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):3373.

ARVO Annual Meeting Abstract March 2012

Next-generation Sequencing Of All Known Genes For RP And Allied Diseases Identifies The Causative Mutations In The Majority Of Patients

Hanno J. Bolz; Carsten Bergmann; Andreas Gal; Saeed R. Ghaffari; Manfred Schürmann; Markus N. Preising; Birgit Lorenz; Christoph Friedburg; Christine Neuhaus; Tobias Eisenberger

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4525.

ARVO Annual Meeting Abstract April 2011

Autosomal Recessive Posterior Microphthalmos/Nanophthalmos is Caused by Loss-of-function Mutations in LOC646960, a Novel Gene Encoding a Trypsin-like Serine Protease

Andreas Gal; I Rau; L El Matri; H-J Kreienkamp; F Munier; J Fuchs; H C. Fledelius; K Vilhelmsen; D A. Thompson; T Rosenberg

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):1638.

Retina April 2007

The Phenotype of Early-Onset Retinal Degeneration in Persons with RDH12 Mutations

PDF

Andreas Schuster; Andreas R. Janecke; Robert Wilke; Eduard Schmid; Debra A. Thompson; Gerd Utermann; Bernd Wissinger; Eberhart Zrenner; Andreas Gal
TAGS: mutation, phenotype, retinal degeneration, electroretinography, retinal cone
Invest. Ophthalmol. Vis. Sci.. 2007; 48(4):1824-1831. https://doi.org/10.1167/iovs.06-0628

Retina May 2004

MERTK Arginine-844-Cysteine in a Patient with Severe Rod–Cone Dystrophy: Loss of Mutant Protein Function in Transfected Cells

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Christina L. McHenry; Yuhui Liu; Wei Feng; Anita R. Nair; Kecia L. Feathers; Xiaoling Ding; Andreas Gal; Douglas Vollrath; Paul A. Sieving; Debra A. Thompson
TAGS: cysteine, mertk gene, retinitis pigmentosa, arginine, mutant proteins, proteins
Invest. Ophthalmol. Vis. Sci.. 2004; 45(5):1456-1463. https://doi.org/10.1167/iovs.03-0909

Retina December 2000

Genetics and Phenotypes of RPE65 Mutations in Inherited Retinal Degeneration

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Debra A. Thompson; Péter Gyürüs; Laura L. Fleischer; Eve L. Bingham; Christina L. McHenry; Eckart Apfelstedt–Sylla; Eberhart Zrenner; Birgit Lorenz; Julia E. Richards; Samuel G. Jacobson; Paul A. Sieving; Andreas Gal
TAGS: mutation, phenotype, retinal degeneration, genetics
Invest. Ophthalmol. Vis. Sci.. 2000; 41(13):4293-4299.

Retina August 2000

Early-Onset Severe Rod–Cone Dystrophy in Young Children with RPE65 Mutations

PDF

Birgit Lorenz; Peter Gyürüs; Markus Preising; Dirk Bremser; Sumin Gu; Monika Andrassi; Christina Gerth; Andreas Gal
TAGS: child, family, mutation, retinitis pigmentosa, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2000; 41(9):2735-2742.

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Online ISSN: 1552-5783

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

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