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Author

J. Wincent

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Open access Oct 2026

Bilateral sensorineural hearing loss in children: causes and long-term progression.

PURPOSE Childhood hearing loss (CHL) in need of assisting listening devices require a constant surveillance for hearing loss (HL) progression and adjustment of interventions. Despite advances in aetiological investigations, there are still important gaps in understanding causal determinants and progression patterns of...

Andra Lazar, L. Verrecchia, I. Uhlén et al. · 0 citations
Jul 2026

Copy Number Gains at 17p11.2 Sparing RAI1: A Shared Phenotype Pattern.

A variety of genomic rearrangement mechanisms contribute to copy number variations at the 17p11.2 locus driven in part by its complex genomic architecture which is characterized by low copy repeats (LCRs) and other repetitive elements, and genomic variations found in 11 families included simple copy number gains, highe...

Christopher M. Grochowski, Shruti A. Pande, Parneet Kaur et al. · 0 citations

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