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Your search keyword '"Reinthaler, Eva M."' showing total 22 results

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22 results on '"Reinthaler, Eva M."'

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1. Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy

2. TPP2 mutation associated with sterile brain inflammation mimicking MS

3. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

4. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

5. Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes

6. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

7. Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease

8. Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease

9. Rare gene deletions in genetic generalized and Rolandic epilepsies

10. Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

11. Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic Epilepsy

12. Rare gene deletions in genetic generalized and Rolandic epilepsies

13. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

14. Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A

15. Investigation of GRIN2A in common epilepsy phenotypes

16. Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes

17. Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies

18. Investigation of GRIN2A in common epilepsy phenotypes

19. Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies

20. Rare gene deletions in genetic generalized and Rolandic epilepsies.

21. Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.

22. Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies.

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