16 results on '"De Jonghe, Peter"'
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2. Cover Image, Volume 39, Issue 3
3. TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
4. Novel Mutations in the DYNC1H1 Tail Domain Refine the Genetic and Clinical Spectrum of Dyneinopathies
5. The SCN1A Variant Database: a Novel Research and Diagnostic Tool
6. Simultaneous Mutation and Copy Number Variation (CNV) Detection by Multiplex PCR-Based GS-FLX Sequencing
7. Genetic Variant in the HSPB1 Promoter Region Impairs the HSP27 Stress Response
8. Microdeletions Involving the SCN1A Gene May Be Common in SCN1A-Mutation-Negative SMEI Patients
9. Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy
10. De novo SCN1A mutations ara a major cause of severe myoclonic epilepsy of infancy
11. TheSCN1Avariant database: a novel research and diagnostic tool
12. Genetic variant in theHSPB1 promoter region impairs the HSP27 stress response
13. Genes and loci involved in febrile seizures and related epilepsy syndromes
14. Microdeletions involving theSCN1A gene may be common inSCN1A-mutation-negative SMEI patients
15. De novoSCN1Amutations are a major cause of severe myoclonic epilepsy of infancy
16. Mutation analysis of the connexin 32 (Cx32) gene in charcot‐marie‐tooth neuropathy type 1: Identification of five new mutations
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