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Epilepsia|May 27, 2016
Primer Part 1-The building blocks of epilepsy geneticsIngo Helbig, Erin L Heinzen, Heather C Mefford, et al.Epilepsia|May 10, 2018
Genetic literacy series: Primer part 2-Paradigm shifts in epilepsy geneticsIngo Helbig, Erin L Heinzen, Heather C Mefford, et al.American Journal of Medical Genetics. Part A|November 21, 2012
Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsyHeather C Mefford, Joseph Cook, Sidney M GospeThe Journal of Craniofacial Surgery|February 17, 2012
New developments in genetic diagnosis: implications for the craniofacial surgeonAnne V Hing, Heather C Mefford, Michael L CunninghamGenome Research|June 10, 2009
A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive diseaseHeather C Mefford, Gregory M Cooper, Troy Zerr, et al.Pediatric Neurology|October 2, 2024
A Retrospective Review of Reclassification of Variants of Uncertain Significance in a Pediatric Epilepsy Cohort Undergoing Genetic Panel TestingNitish Chourasia, Rohan Vaidya, Soham Sengupta, et al.Annual Review of Genomics and Human Genetics|April 30, 2014
The genetics of microdeletion and microduplication syndromes: an updateCorey T Watson, Tomas Marques-Bonet, Andrew J Sharp, et al.Epilepsia|August 12, 2018
Return of individual results in epilepsy genomic research: A view from the fieldRuth Ottman, Catharine Freyer, Heather C Mefford, et al.Nature Reviews. Disease Primers|September 5, 2024
Developmental and epileptic encephalopathiesIngrid E Scheffer, Sameer Zuberi, Heather C Mefford, et al.Pageof 38