Morpho-functional survey in children suspected of inherited retinal dystrophies via video recording, electrophysiology and genetic analysis
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DOI: 10.1007/s10792-020-01432-2
Abstract: Purpose To present a detailed study matching functional response and video imaging with genetic analysis in children suspected of inherited retinal dystrophy (IRD). Methods Sixteen children underwent fundus examination via video recording (Heine Omega 500… read more here.
Keywords: video; children suspected; analysis; suspected inherited ... See more keywords
Genetic screening of children with suspected inherited bleeding disorders
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DOI: 10.1111/hae.13948
Abstract: Genetic screening using highâthroughput DNA sequencing has become a tool in diagnosing patients with suspected inherited bleeding disorders (IBD). However, its usefulness and diagnostic efficacy in children is unclear. read more here.
Keywords: genetic screening; inherited bleeding; bleeding disorders; suspected inherited ... See more keywords