Charlotte M. Reiff
Freiburg, BW, Germany
Last Updated: 09/26/2026
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Found 11 publications
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Journal: Human mutation
Published: August 13, 2021
Translational Read-Through Therapy of RPGR Nonsense Mutations.
Journal: International journal of molecular sciences
Published: October 06, 2020
Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.
Journal: International journal of molecular sciences
Published: December 30, 2019
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 24, 2019
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Journal: Human mutation
Published: January 09, 2019
Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1.
Journal: Human molecular genetics
Published: September 02, 2016
The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family.
Journal: Scientific reports
Published: February 22, 2016
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
Journal: PloS one
Published: September 09, 2015
Photophobia in a blind eye after removal of a progressive orbital optic glioma with denervation.
Journal: Journal of the neurological sciences
Published: July 22, 2015
Bestrophin 1 is indispensable for volume regulation in human retinal pigment epithelium cells.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: May 06, 2015
Quantitative Analysis of Fundus-Image Sequences Reveals Phase of Spontaneous Venous Pulsations.
Journal: Translational vision science & technology
Published: April 15, 2015
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Last Updated: 09/26/2026