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List of works by Elizabeth S Barrie

Alpha-synuclein mRNA isoform formation and translation affected by polymorphism in the human SNCA 3'UTR.

scientific article published on 6 May 2018

De novo loss-of-function variants in NSD2 (WHSC1) associate with a subset of Wolf-Hirschhorn syndrome

scientific article published on 01 August 2019

Expanding the spectrum of CEP55-associated disease to viable phenotypes

scientific article published on 25 February 2020

Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene

scientific article published on 12 August 2019

Human Bacterial Artificial Chromosome (BAC) Transgenesis Fully Rescues Noradrenergic Function in Dopamine β-Hydroxylase Knockout Mice

scientific journal article

Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss

scientific article published on 01 October 2019

Pericentromeric regions of homozygosity on the X chromosome: Another likely benign population variant

scientific article published on 20 March 2018

Proteomic analysis of cisplatin-induced cochlear damage: methods and early changes in protein expression

scientific journal article

Regulatory effects of genomic translocations at the human carboxylesterase-1 (CES1) gene locus.

scientific article published on 11 February 2016

Regulatory polymorphisms in human DBH affect peripheral gene expression and sympathetic activity

scientific article

Role of ITGAE in the development of autoimmune diabetes in non-obese diabetic mice

scientific article published on 18 December 2014

Testing genetic modifiers of behavior and response to atomoxetine in autism spectrum disorder with ADHD

scientific article published on 05 March 2018

mRNA Transcript Diversity Creates New Opportunities for Pharmacological Intervention ⬇️

scientific article published on February 7, 2012

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