Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Heather C Mefford

Showing results (31-40 of 222) with videos related to

Pageof 23
Sort By:
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
The New England Journal of Medicine|February 24, 2012
Genomics, intellectual disability, and autismHeather C Mefford, Mark L Batshaw, Eric P Hoffman
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
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 13, 2024
Author Correction: Developmental and epileptic encephalopathiesIngrid E Scheffer, Sameer Zuberi, Heather C Mefford, et al.
Pageof 23

Showing results (31-40 of 222) with videos related to

Sort By:
Pageof 23
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
The New England Journal of Medicine|February 24, 2012
Genomics, intellectual disability, and autismHeather C Mefford, Mark L Batshaw, Eric P Hoffman
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
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 13, 2024
Author Correction: Developmental and epileptic encephalopathiesIngrid E Scheffer, Sameer Zuberi, Heather C Mefford, et al.
Pageof 23