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Heather C Mefford

Showing results (111-120 of 222) with videos related to

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American Journal of Human Genetics|April 11, 2020
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac AbnormalitiesAlison M Muir, Jennifer L Cohen, Sarah E Sheppard, et al.
Annals of Neurology|October 17, 2019
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal SeizuresRosemary Burgess, Shuyu Wang, Amy McTague, et al.
Genes|May 28, 2022
<i>SCN1A</i> Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian FamiliesDiana M Cornejo-Sanchez, Anushree Acharya, Thashi Bharadwaj, et al.
Annals of Neurology|December 23, 2011
Rare copy number variants are an important cause of epileptic encephalopathiesHeather C Mefford, Simone C Yendle, Cynthia Hsu, et al.
Journal of Medical Genetics|June 9, 2017
Loss of function in <i>ROBO1</i> is associated with tetralogy of Fallot and septal defectsPaul Kruszka, Pranoot Tanpaiboon, Katherine Neas, et al.
Epilepsia|June 9, 2016
SCN8A encephalopathy: Research progress and prospectsMiriam H Meisler, Guy Helman, Michael F Hammer, et al.
The Journal of Pediatrics|June 20, 2020
The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill ChildrenAmanda S Freed, Sarah V Clowes Candadai, Megan C Sikes, et al.
Epilepsia|January 9, 2013
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsyRikke S Møller, Yvonne G Weber, Laura L Klitten, et al.
Human Molecular Genetics|January 14, 2009
Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophyMegan L Landsverk, Elizabeth K Ruzzo, Heather C Mefford, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 23, 2022
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2Abbe Lai, Aubrie Soucy, Christelle Moufawad El Achkar, et al.
Pageof 23

Showing results (111-120 of 222) with videos related to

Sort By:
Pageof 23
American Journal of Human Genetics|April 11, 2020
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac AbnormalitiesAlison M Muir, Jennifer L Cohen, Sarah E Sheppard, et al.
Annals of Neurology|October 17, 2019
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal SeizuresRosemary Burgess, Shuyu Wang, Amy McTague, et al.
Genes|May 28, 2022
<i>SCN1A</i> Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian FamiliesDiana M Cornejo-Sanchez, Anushree Acharya, Thashi Bharadwaj, et al.
Annals of Neurology|December 23, 2011
Rare copy number variants are an important cause of epileptic encephalopathiesHeather C Mefford, Simone C Yendle, Cynthia Hsu, et al.
Journal of Medical Genetics|June 9, 2017
Loss of function in <i>ROBO1</i> is associated with tetralogy of Fallot and septal defectsPaul Kruszka, Pranoot Tanpaiboon, Katherine Neas, et al.
Epilepsia|June 9, 2016
SCN8A encephalopathy: Research progress and prospectsMiriam H Meisler, Guy Helman, Michael F Hammer, et al.
The Journal of Pediatrics|June 20, 2020
The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill ChildrenAmanda S Freed, Sarah V Clowes Candadai, Megan C Sikes, et al.
Epilepsia|January 9, 2013
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsyRikke S Møller, Yvonne G Weber, Laura L Klitten, et al.
Human Molecular Genetics|January 14, 2009
Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophyMegan L Landsverk, Elizabeth K Ruzzo, Heather C Mefford, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 23, 2022
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2Abbe Lai, Aubrie Soucy, Christelle Moufawad El Achkar, et al.
Pageof 23