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List of works by Suzanne Broadgate

"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS"

scientific article published on 29 July 2020

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scientific article published on 01 April 2015

Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.

scientific article

Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.

scientific article published on 28 January 2014

Diabetic macular oedema: under-represented in the genetic analysis of diabetic retinopathy.

scientific article published in April 2018

Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy

scientific article published on 9 May 2016

Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders

scientific article published on 14 November 2016

Identification of rod- and cone-specific expression signatures to identify candidate genes for retinal disease

scientific article published on 09 January 2015

New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders.

scientific article published on 11 August 2017

Novel homozygous splicing mutations in cause autosomal recessive retinitis pigmentosa

scientific article published on 31 August 2018

Unravelling the genetics of inherited retinal dystrophies: Past, present and future

scientific article published on 28 March 2017

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