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Your search keyword '"Pediatric Neurology and Neuromuscular Diseases Unit"' showing total 6 results

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6 results on '"Pediatric Neurology and Neuromuscular Diseases Unit"'

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1. Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

2. Novel Compound Heterozygous Mutations inTBC1D24Cause Familial Malignant Migrating Partial Seizures of Infancy

3. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

4. TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway

5. Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death

6. Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity

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