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Your search keyword '"Scheffer I. E."' showing total 14 results

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14 results on '"Scheffer I. E."'

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

2. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

3. Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

4. Antiepileptic Drug Teratogenicity and De Novo Genetic Variation Load

5. Polygenic burden in focal and generalized epilepsies

6. Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

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

8. The genetics of Dravet syndrome

9. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

10. FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability

11. Damaging de novo missense variants in EEF1A2lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

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

13. Autism and developmental disability caused by KCNQ3 gain-of-function variants

14. CHD2 variants are a risk factor for photosensitivity in epilepsy

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