A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy December 25, 2017
A non-enzymatic two step catalytic reduction of methylglyoxal by nanostructured V2O5 modified electrode December 25, 2017
Erratum to: Asparagine synthetase deficiency-report of a novel mutation and review of literature December 14, 2017
Serum starvation of ARPE-19 changes the cellular distribution of cholesterol and Fibulin3 in patterns reminiscent of age-related macular degeneration October 31, 2017
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)-First Report of Clinical and Imaging Features from India, and a Novel SACS Gene Duplication August 9, 2017
The utility and futility of targeted next generation sequencing for carrier detection in “At Risk” couples July 6, 2017
