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List of works by James Hejtmancik

A Mouse Model with Ablated Asparaginase and Isoaspartyl Peptidase 1 (Asrgl1) Develops Early Onset Retinal Degeneration (RD) Recapitulating the Human Phenotype

scientific article published in 2022

A Spontaneous Missense Mutation in Branched Chain Keto Acid Dehydrogenase Kinase in the Rat Affects Both the Central and Peripheral Nervous Systems

scientific article (publication date: 2016)

A novel mutation of the RPGR gene in a Chinese X-linked retinitis pigmentosa family and possible involvement of X-chromosome inactivation

scientific article published on 24 August 2020

Functional non-coding polymorphism in an EPHA2 promoter PAX2 binding site modifies expression and alters the MAPK and AKT pathways.

scientific article published on 30 August 2017

Mutations and mechanisms in congenital and age-related cataracts.

scientific article published on 19 June 2016

Thyroid hormone receptor beta mutations alter photoreceptor development and function in Danio rerio (zebrafish)

scientific article published on 22 June 2020

Whole genome sequencing data for two individuals of Pakistani descent

scientific article published on 11 September 2018

Whole genome sequencing data of multiple individuals of Pakistani descent

scientific article published on 13 October 2020

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