Anja K. Mayer
Tuebingen, BW 72076, Germany
Last Updated: 09/26/2026
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Found 11 publications
Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3-Associated Autosomal Recessive Achromatopsia.
Journal: International journal of molecular sciences
Published: June 16, 2021
Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority.
Journal: European journal of human genetics : EJHG
Published: June 04, 2019
Correction: Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 10, 2018
Vulnerability of frontal brain neurons for the toxicity of expanded ataxin-3.
Journal: Human molecular genetics
Published: August 23, 2018
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus.
Journal: Brain : a journal of neurology
Published: July 27, 2018
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy.
Journal: The Journal of clinical investigation
Published: July 10, 2017
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
Journal: Human mutation
Published: May 09, 2017
Genotype and Phenotype in an unusual form of Laurence-Moon-Bardet-Biedl syndrome.
Journal: Acta ophthalmologica
Published: November 24, 2016
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
Journal: PloS one
Published: September 09, 2015
Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation.
Journal: European journal of human genetics : EJHG
Published: March 18, 2015
Showing 1-11 of 11
Last Updated: 09/26/2026