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Expertise in Hearing Disorders: HELP
Polona Le Quesne Stabej
Based on 4 articles published since 2010
(Why 4 articles?)
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Expertise Level

  What is this?

Expertscape's algorithms degrade at low publication numbers. Thus, with only 4 published articles on Hearing Disorders from 2010 through 2020, it is not possible for Expertscape to reliably rate Polona Le Quesne Stabej's expertise on this topic.

Work Locations
Details
Most likely:    University College London      
2017
  • Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK. · Division of Medicine, UCL, London, UK. · Department of Paediatric Metabolic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. · North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. · North East Thames Regional Genetics Laboratory, London, UK. · Radiology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. · Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK. · Pubmed 28173822
2014
  • UCL Institute of Ophthalmology, London, United Kingdom; Moorfields Eye Hospital, London, United Kingdom; Eye Hospital, University Medical Centre, Ljubljana, Slovenia. · Moorfields Eye Hospital, London, United Kingdom. · UCL Institute of Ophthalmology, London, United Kingdom; Moorfields Eye Hospital, London, United Kingdom. · UCL Institute of Child Health, London, United Kingdom. · UCL Ear Institute, London, United Kingdom. · UCL Institute of Ophthalmology, London, United Kingdom; Moorfields Eye Hospital, London, United Kingdom. Electronic address: · Pubmed 24199935
2012
  • Clinical and Molecular Genetics, Institute of Child Health, UCL, London, UK. · Pubmed 22135276
2013
Specific Interests

In the titles of their published articles, experts often reveal their very specific interests.

Here are the titles of all articles written by Polona Le Quesne Stabej in 2010-2020 about Hearing Disorders:

  • An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes. 2017
  • Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation. 2014
  • Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing. 2013
  • Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. 2012
Show List of Full Article Records
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University College London
Affiliation Timeline
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What is this?
University College London
2017
  • Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK. · Division of Medicine, UCL, London, UK. · Department of Paediatric Metabolic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. · North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. · North East Thames Regional Genetics Laboratory, London, UK. · Radiology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. · Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK. · Pubmed 28173822
2014
  • UCL Institute of Ophthalmology, London, United Kingdom; Moorfields Eye Hospital, London, United Kingdom; Eye Hospital, University Medical Centre, Ljubljana, Slovenia. · Moorfields Eye Hospital, London, United Kingdom. · UCL Institute of Ophthalmology, London, United Kingdom; Moorfields Eye Hospital, London, United Kingdom. · UCL Institute of Child Health, London, United Kingdom. · UCL Ear Institute, London, United Kingdom. · UCL Institute of Ophthalmology, London, United Kingdom; Moorfields Eye Hospital, London, United Kingdom. Electronic address: · Pubmed 24199935
2012
  • Clinical and Molecular Genetics, Institute of Child Health, UCL, London, UK. · Pubmed 22135276
2013
Yearly article counts 00010011100
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