Tom J de Koning
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- 2024
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Mark
White matter abnormalities in amino acid disorders and organic acidurias
- Chapter in Book/Report/Conference proceeding › Book chapter
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Mark
Conventional and novel anti-seizure medications reveal a particular role for GABAA in a North Sea progressive myoclonus Epilepsy Drosophila model
- Contribution to journal › Article
-
Mark
Physician's conceptions of the decision-making process when managing febrile infants ≤ 60 days old : a phenomenographic qualitative study
- Contribution to journal › Article
-
Mark
Clinical Characteristics Suggestive of a Genetic Cause in Cerebral Palsy : A Systematic Review
- Contribution to journal › Scientific review
-
Mark
The natural history of progressive myoclonus Ataxia
- Contribution to journal › Article
- 2023
-
Mark
Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy
- Contribution to journal › Article
-
Mark
Psychiatric manifestations of inborn errors of metabolism : A systematic review
- Contribution to journal › Scientific review
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Mark
Parkinsonism in Genetic Neurodevelopmental Disorders : A Systematic Review
- Contribution to journal › Scientific review
-
Mark
Early onset ataxia with comorbid myoclonus and epilepsy : A disease spectrum with shared molecular pathways and cortico-thalamo-cerebellar network involvement
- Contribution to journal › Article
-
Mark
Gut Microbiome Composition in Dystonia Patients
- Contribution to journal › Article
