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Article

The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss.

International journal of molecular sciences - 14 Mar 2021

de Bruijn Suzanne E, Fadaie Zeinab, Cremers Frans P M, Kremer Hannie, Roosing Susanne

Abstract excerpt

The identification of pathogenic variants in monogenic diseases has been of interest to researchers and clinicians for several decades. However, for inherited diseases with extremely high genetic heterogeneity, such as hearing loss and retinal dystrophies, establishing a molecular diagnosis requires an enormous effort. In this review, we use these two genetic conditions as examples to describe the initial...

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Identifiers

PMID: 33799353
DOI: 10.3390/ijms22062943
PMCID: PMC7998853

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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