Citations 13

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Human Mutation | March 2, 2016 | Volume: 37 | Issue: 7 | Pages: 653-660

10.1002/humu.22983 | PMID 26931382

Expanding the Molecular and Clinical Phenotype of SSR4-CDG

Human Mutation | August 12, 2015 | Volume: 36 | Issue: 11 | Pages: 1048-1051

10.1002/humu.22856 | PMID 26264460

Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke

JAMA Neurology | May 11, 2015 | Volume: 72 | Issue: 7 | Pages: 781

10.1001/jamaneurol.2015.0582 | PMID 25961151