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Nature Reviews. Neurology|August 13, 2014
Epilepsy: Beyond the single nucleotide variant in epilepsy geneticsIngrid E Scheffer, Heather C Mefford
HGG Advances|October 10, 2022
Genetics for all: Tri-directional research engagement as an equitable framework for international partnershipsThalia Billawala, Toluwani Taiwo, Neil A Hanchard
Epilepsy & Behavior : E&B|June 13, 2013
The unexpected role of copy number variations in juvenile myoclonic epilepsyIngo Helbig, Corinna Hartmann, Heather C Mefford
American Journal of Medical Genetics. Part A|October 6, 2018
A de novo in-frame deletion of CASK gene causes early onset infantile spasms and supratentorial cerebral malformation in a female patientXiuhua Bozarth, Kimberly Foss, Heather C Mefford
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 Gospe
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 7, 2020
Biases in arginine codon usage correlate with genetic disease riskKatharina V Schulze, Neil A Hanchard, Michael F Wangler
The Journal of Craniofacial Surgery|February 17, 2012
New developments in genetic diagnosis: implications for the craniofacial surgeonAnne V Hing, Heather C Mefford, Michael L Cunningham
Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie|February 12, 2015
A Genome-Wide Screen for Large-Effect Alloimmunization Susceptibility Loci among Red Blood Cell Transfusion Recipients with Sickle Cell DiseaseNeil A Hanchard, Joann M Moulds, John W Belmont, et al.
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