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Heather C Mefford

Showing results (121-130 of 222) with videos related to

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Human Mutation|October 13, 2018
The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteriaIngo Helbig, Erin Rooney Riggs, Carrie-Anne Barry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 13, 2015
Clinical phenotype of the recurrent 1q21.1 copy-number variantRaphael Bernier, Kyle J Steinman, Beau Reilly, et al.
Plos Genetics|March 13, 2015
Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinaseLily Paemka, Vinit B Mahajan, Salleh N Ehaideb, et al.
Nature Genetics|August 17, 2010
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndromeSarah B Ng, Abigail W Bigham, Kati J Buckingham, et al.
American Journal of Human Genetics|December 25, 2012
Mutations in ECEL1 cause distal arthrogryposis type 5DMargaret J McMillin, Jennifer E Below, Kathryn M Shively, et al.
Nature Genetics|August 13, 2013
GRIN2A mutations cause epilepsy-aphasia spectrum disordersGemma L Carvill, Brigid M Regan, Simone C Yendle, et al.
Epilepsia|February 13, 2023
WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality riskKaren L Oliver, Marina Trivisano, Simone A Mandelstam, et al.
American Journal of Human Genetics|April 14, 2015
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic SeizuresGemma L Carvill, Jacinta M McMahon, Amy Schneider, et al.
Human Molecular Genetics|January 2, 2016
TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse functionWei Ba, Yan Yan, Margot R F Reijnders, et al.
Tuberculosis (Edinburgh, Scotland)|April 30, 2017
The SIGLEC14 null allele is associated with Mycobacterium tuberculosis- and BCG-induced clinical and immunologic outcomesAndrew D Graustein, David J Horne, Jerry J Fong, et al.
Pageof 23

Showing results (121-130 of 222) with videos related to

Sort By:
Pageof 23
Human Mutation|October 13, 2018
The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteriaIngo Helbig, Erin Rooney Riggs, Carrie-Anne Barry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 13, 2015
Clinical phenotype of the recurrent 1q21.1 copy-number variantRaphael Bernier, Kyle J Steinman, Beau Reilly, et al.
Plos Genetics|March 13, 2015
Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinaseLily Paemka, Vinit B Mahajan, Salleh N Ehaideb, et al.
Nature Genetics|August 17, 2010
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndromeSarah B Ng, Abigail W Bigham, Kati J Buckingham, et al.
American Journal of Human Genetics|December 25, 2012
Mutations in ECEL1 cause distal arthrogryposis type 5DMargaret J McMillin, Jennifer E Below, Kathryn M Shively, et al.
Nature Genetics|August 13, 2013
GRIN2A mutations cause epilepsy-aphasia spectrum disordersGemma L Carvill, Brigid M Regan, Simone C Yendle, et al.
Epilepsia|February 13, 2023
WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality riskKaren L Oliver, Marina Trivisano, Simone A Mandelstam, et al.
American Journal of Human Genetics|April 14, 2015
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic SeizuresGemma L Carvill, Jacinta M McMahon, Amy Schneider, et al.
Human Molecular Genetics|January 2, 2016
TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse functionWei Ba, Yan Yan, Margot R F Reijnders, et al.
Tuberculosis (Edinburgh, Scotland)|April 30, 2017
The SIGLEC14 null allele is associated with Mycobacterium tuberculosis- and BCG-induced clinical and immunologic outcomesAndrew D Graustein, David J Horne, Jerry J Fong, et al.
Pageof 23