Purpose: The Oxidation Resistance 1 gene (OXR1) confers neuroprotection against oxidative stress. Oxr1 deficiency in mice resulted in cerebellar neurodegeneration. Genetic causes account for the most
Pathway-based dissection of additive genetic variance in SDQ-ADHD and SCDC scores according to 50 molecular signatures database hallmark gene set collections. (XLSX 20 kb)
Introduction: Co-existence pathogenic copy number variation with aneuploidy is a rare phenomenon. Whole TBL1XR1 gene deletions are described and associated with autosomal dominant intellectual develop
