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- 2017
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Mark
Rapid targeted genomics in critically ill newborns
(
- Contribution to journal › Article
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Mark
Amino acid synthesis deficiencies
(
- Contribution to journal › Scientific review
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Mark
The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy : An observational prospective open-label study
(
- Contribution to journal › Article
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Mark
The hidden Niemann-Pick type C patient : clinical niches for a rare inherited metabolic disease
(
- Contribution to journal › Article
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Mark
A post hoc study on gene panel analysis for the diagnosis of dystonia
(
- Contribution to journal › Article
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Mark
Using the shared genetics of dystonia and ataxia to unravel their pathogenesis
(
- Contribution to journal › Scientific review
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Mark
GAVIN : Gene-Aware Variant INterpretation for medical sequencing
(
- Contribution to journal › Article
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Mark
Diagnostic value of MRS-quantified brain tissue lactate level in identifying children with mitochondrial disorders
(
- Contribution to journal › Article
- 2016
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Mark
Neonates at risk of medium-chain acyl-CoA dehydrogenase deficiency : A perinatal protocol for use before population neonatal screening test results become available
(
- Contribution to journal › Letter
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Mark
Neurometabolic disorders are treatable causes of dystonia
(
- Contribution to journal › Article