Associated Papers
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS09_het
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal
Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma.
Fernández-Martínez L et al.
European Journal of Human Genetics : Ejhg, 2011
Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.
Sundaresan P et al.
Molecular Vision, 2009
An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.
Henderson RH et al.
Investigative Ophthalmology & Visual Science, 2007
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