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List of works by Polona Le Quesne Stabej

An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes.

scientific article published on 07 February 2017

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study

scientific article

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

scientific article published on 26 July 2018

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

scientific article published on 6 September 2018

Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss

scientific article

STAG3 truncating variant as the cause of primary ovarian insufficiency

scientific article published on 10 June 2015

Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing

scientific article published on 08 August 2013

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