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20 results on '"Helbig, I."'

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1. Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

2. Association of ultra-rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study

3. Polygenic burden in focal and generalized epilepsies

4. Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

5. De novo variants in neurodevelopmental disorders with epilepsy

6. Exon-disrupting deletions ofNRXN1in idiopathic generalized epilepsy

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

8. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

9. Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline

10. Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

11. Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

12. Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1,2q22.3 and 17q21.32

13. Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

14. Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

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

16. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

17. Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

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

19. Gene expression analysis in absence epilepsy using a monozygotic twin design

20. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

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