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- 2016
-
Mark
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
2016) In Human Mutation(
- Contribution to journal › Article
- 2011
-
Mark
Complex III staining in blue native polyacrylamide gels
(
- Contribution to journal › Article
- 2010
-
Mark
Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation.
(
- Contribution to journal › Article
- 2002
-
Mark
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L
(
- Contribution to journal › Article