Associated Papers
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Heutinck PAT et al.
Investigative Ophthalmology & Visual Science, 2024
39189993 (PubMed )
Supplement: iovs-65-10-40_s001.xlsx › Sheet1
Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar.
Sallah SR et al.
European Journal of Human Genetics : Ejhg, 2020
32313206 (PubMed )
Supplement: 41431_2020_623_MOESM1_ESM.xlsx › combined_train_test_data
Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.
Zeitz C et al.
Progress in Retinal and Eye Research, 2015
Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.
Bijveld MM et al.
Ophthalmology, 2013
What can naturally occurring mutations tell us about Ca(v)1.x channel function?
Stockner T et al.
Biochimica Et Biophysica Acta, 2013
Nightblindness-associated transient tonic downgaze (NATTD) in infant boys with chin-up head posture.
Simonsz HJ et al.
Strabismus, 0
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