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- 2020
-
Mark
The Wide Phenotypic Spectrum of L-2 Hydroxyglutaric Aciduria in Adults
(
- Contribution to journal › Letter
- 2017
-
Mark
Amino acid synthesis deficiencies
(
- Contribution to journal › Scientific review
-
Mark
Using the shared genetics of dystonia and ataxia to unravel their pathogenesis
(
- Contribution to journal › Scientific review
- 2015
-
Mark
Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics : The opportunities and challenges
(
- Contribution to journal › Scientific review
- 2012
-
Mark
D-serine influences synaptogenesis in a P19 cell model
(
- Chapter in Book/Report/Conference proceeding › Book chapter
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Mark
A common variant in ERBB4 regulates gaba concentrations in human cerebrospinal fluid
(
- Contribution to journal › Article
-
Mark
Increased concentrations of both NMDA receptor co-agonists d-serine and glycine in global ischemia : A potential novel treatment target for perinatal asphyxia
(
- Contribution to journal › Article
- 2011
-
Mark
D-Serine : The right or wrong isoform?
(
- Contribution to journal › Scientific review
- 2010
-
Mark
Liquid chromatography-tandem mass spectrometry assay for the quantification of free and total sialic acid in human cerebrospinal fluid
2010) In Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences 878(15-16). p.1098-1102(
- Contribution to journal › Article
-
Mark
Whole body composition analysis by the BodPod air-displacement plethysmography method in children with Phenylketonuria shows a higher body fat percentage
(
- Contribution to journal › Article