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List of works by William J Kimberling

A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.

scientific article published on 15 June 2016

Development of a genotyping microarray for Usher syndrome

scientific article published on 08 September 2006

Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype

scientific article

Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a.

scientific article published in April 2004

Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family

scientific article

Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene

scientific article

USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.

scientific article published in August 2004

Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).

scientific article published in September 2004

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