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Your search keyword '"Lortie, Anne"' showing total 24 results

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24 results on '"Lortie, Anne"'

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1. Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

3. Brain language networks and cognitive outcomes in children with frontotemporal lobe epilepsy.

4. Pharmacogenetic testing in pediatric neurology: a pragmatic study evaluating clinician and patient perceptions

7. The genetic landscape of infantile spasms

15. VALIDITY OF PARENT-COMPLETED DEVELOPMENTAL SCREENING IN CHILDREN WITH NEW-ONSET EPILEPSY BELOW THE AGE OF 3

16. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

19. Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness

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

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

24. Atypical juvenile presentation of G M2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene.

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