Search

Your search keyword '"Pediatric Neurology and Neuromuscular Diseases Unit"' showing total 5 results

Search Constraints

Start Over You searched for: Author "Pediatric Neurology and Neuromuscular Diseases Unit" Remove constraint Author: "Pediatric Neurology and Neuromuscular Diseases Unit" Topic 0302 clinical medicine Remove constraint Topic: 0302 clinical medicine
5 results on '"Pediatric Neurology and Neuromuscular Diseases Unit"'

Search Results

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

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

Catalog

Books, media, physical & digital resources