Sage Journals: Discover world-class research

Retricted access

Brief report

First published 2019-6

Unusual Presentation of PMM2-Congenital Disorder of Glycosylation With Isolated Strokelike Episodes in a Young Girl

Rajni Farmania, Puneet Jain, Suvasini Sharma [...]

Journal of Child Neurology

Open access

Case report

First published 2013-7

Bradley S. Miller, Meghann M. Duffy, O. Yaw Addo [...]

Journal of Investigative Medicine High Impact Case Reports

Retricted access

Brief report

First published 2000-09

Anna Erlandson, Helena Stibler, Bengt Kristiansson [...]

Genetic Testing and Molecular Biomarkers

Open access

Review article

First published 2022

Konstantin Feinberg

Therapeutic Advances in Rare Disease

Retricted access

Research article

First published 1999-09

Andrew Crosby, Steve Jeffery, Tessa Homfray [...]

Genetic Testing and Molecular Biomarkers