selected publications
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academic article
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An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS.
Genes.
8.
2017
Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC.
Neurobiology of Disease.
98.
2017
Fixation stability and implication for multifocal electroretinography in patients with neovascular age-related macular degeneration after anti-VEGF treatment.
Graefe's Archive for Clinical and Experimental Ophthalmology.
254.
2016
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
PLoS ONE.
11.
2016
Retinal structure in young patients aged 10 years or less with Best vitelliform macular dystrophy.
Graefe's Archive for Clinical and Experimental Ophthalmology.
254.
2016