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Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

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Nature Genetics 45 (7) 825 (2013)
DOI: 10.1038/ng.2646
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SYNGAP1 and Methylenetetrahydrofolate in Cerebrospinal Fluid: Cognitive Development after Oral Folate (5-Methyltetrahydrofolate) Supplementation in a 5-Year-Old Girl

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Journal of Pediatric Neurology 20 (04) 298 (2022)
DOI: 10.1055/s-0041-1740114
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