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- 2015
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Mark
A novel diagnostic approach to patients with myoclonus
- Contribution to journal › Scientific review
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Mark
Genome-wide association study of NMDA receptor coagonists in human cerebrospinal fluid and plasma
- Contribution to journal › Article
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Mark
Non-motor symptoms in genetically defined dystonia : Homogenous groups require systematic assessment
- Contribution to journal › Scientific review
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Mark
Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation : An international multicenter study
- Contribution to journal › Article
-
Mark
Movement disorders in 2014 : Genetic advances spark a revolution in dystonia phenotyping
- Contribution to journal › Scientific review
-
Mark
Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics : The opportunities and challenges
- Contribution to journal › Scientific review
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Mark
Dystonia in children and adolescents : A systematic review and a new diagnostic algorithm
- Contribution to journal › Scientific review
- 2014
-
Mark
Rare inborn errors of metabolism with movement disorders : a case study to evaluate the impact upon quality of life and adaptive functioning
- Contribution to journal › Article
-
Mark
Serine synthesis disorders
(2014) p.123-131
- Chapter in Book/Report/Conference proceeding › Book chapter
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Mark
Assessment of speech in early-onset ataxia : A pilot study
- Contribution to journal › Article