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Molecular Genetics & Genomic Medicine|January 10, 2018
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectivenessElizabeth E Palmer, Deborah Schofield, Rupendra Shrestha, et al.Ebiomedicine|April 29, 2023
CSF neopterin, quinolinic acid and kynurenine/tryptophan ratio are biomarkers of active neuroinflammationJingya Yan, Kavitha Kothur, Shekeeb Mohammad, et al.Neurology|February 11, 2021
Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic EncephalopathiesElizabeth Emma Palmer, Rani Sachdev, Rebecca Macintosh, et al.Human Molecular Genetics|June 9, 2016
Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathyElizabeth E Palmer, Kelsey E Jarrett, Rani K Sachdev, et al.Cell|February 24, 2018
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and SeizuresVincenzo A Gennarino, Elizabeth E Palmer, Laura M McDonell, et al.American Journal of Human Genetics|March 5, 2019
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive SyndromeElizabeth E Palmer, Seungbeom Hong, Fatema Al Zahrani, et al.Pageof 3