List of works - Claire E. L. Smith - Paulina

List of works by Claire E. L. Smith

A tissue-specific promoter derived from a SINE retrotransposon drives biallelic expression of PLAGL1 in human lymphocytes ⬇️

scientific article published on 28 September 2017

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

scientific article published on 31 October 2018

Drug and siRNA screens identify ROCK2 as a therapeutic target for ciliopathies

scientific article

New missense variants in RELT causing hypomineralised amelogenesis imperfecta

scientific article published on 12 February 2020

Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho-dento-osseous syndrome ⬇️

scientific article published on 09 September 2018

Phenotype and Variant Spectrum in the LAMB3 Form of Amelogenesis Imperfecta

scientific article published on 24 March 2019

Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20

scientific article

Spectrum of pathogenic variants and multiple founder effects in amelogenesis imperfecta associated with MMP20

scientific article

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