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- 2018
-
Mark
DPAGT1 deficiency with encephalopathy (DPAGT1-CDG) : Clinical and genetic description of 11 new patients
(
- Chapter in Book/Report/Conference proceeding › Book chapter
- 2017
-
Mark
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS
(
- Contribution to journal › Article
- 2016
-
Mark
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
2016) In Human Mutation(
- Contribution to journal › Article