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- 2017
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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
-
Mark
A post hoc study on gene panel analysis for the diagnosis of dystonia
(
- Contribution to journal › Article
-
Mark
Rapid targeted genomics in critically ill newborns
(
- Contribution to journal › Article
- 2015
-
Mark
Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics : The opportunities and challenges
(
- Contribution to journal › Scientific review
-
Mark
Dystonia in children and adolescents : A systematic review and a new diagnostic algorithm
(
- Contribution to journal › Scientific review
- 2014
-
Mark
Ramsay hunt syndrome : Clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation
(
- Contribution to journal › Article