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Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
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Novel non-coding homozygous mutation 'Ghent +49A>G' in the iron-responsive element of L-ferritin causes hereditary hyperferritinaemia-cataract syndrome
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Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
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An augmented ABCA4 screen targeting non-coding regions reveals a deep intronic founder causal variant in Belgian Stargardt patients
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Exploring the role of non-coding variation in hereditary blindness : Stargardt disease as a model