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Heather C Mefford

Showing results (151-160 of 222) with videos related to

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Nature Genetics|February 19, 2008
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizuresAndrew J Sharp, Heather C Mefford, Kelly Li, et al.
Epilepsia|July 1, 2015
Mutations in KCNT1 cause a spectrum of focal epilepsiesRikke S Møller, Sarah E Heron, Line H G Larsen, et al.
American Journal of Human Genetics|April 16, 2019
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-DyskinesiaKathleen M Gorman, Esther Meyer, Detelina Grozeva, et al.
Genetics in Medicine Open|November 1, 2024
Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testingJonathan Marquez, Jennifer N Cech, Cate R Paschal, et al.
Neurology|January 24, 2016
Multiplex families with epilepsy: Success of clinical and molecular genetic characterizationZaid Afawi, Karen L Oliver, Sara Kivity, et al.
Nature Genetics|May 28, 2013
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1Gemma L Carvill, Sinéad B Heavin, Simone C Yendle, et al.
Brain : a Journal of Neurology|August 20, 2021
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophyEdgard Verdura, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, et al.
Neurology|December 14, 2018
<i>SYNGAP1</i> encephalopathy: A distinctive generalized developmental and epileptic encephalopathyDanique R M Vlaskamp, Benjamin J Shaw, Rosemary Burgess, et al.
Cell|July 8, 2014
Disruptive CHD8 mutations define a subtype of autism early in developmentRaphael Bernier, Christelle Golzio, Bo Xiong, et al.
Neurology|January 9, 2015
The phenotypic spectrum of SCN8A encephalopathyJan Larsen, Gemma L Carvill, Elena Gardella, et al.
Pageof 23

Showing results (151-160 of 222) with videos related to

Sort By:
Pageof 23
Nature Genetics|February 19, 2008
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizuresAndrew J Sharp, Heather C Mefford, Kelly Li, et al.
Epilepsia|July 1, 2015
Mutations in KCNT1 cause a spectrum of focal epilepsiesRikke S Møller, Sarah E Heron, Line H G Larsen, et al.
American Journal of Human Genetics|April 16, 2019
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-DyskinesiaKathleen M Gorman, Esther Meyer, Detelina Grozeva, et al.
Genetics in Medicine Open|November 1, 2024
Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testingJonathan Marquez, Jennifer N Cech, Cate R Paschal, et al.
Neurology|January 24, 2016
Multiplex families with epilepsy: Success of clinical and molecular genetic characterizationZaid Afawi, Karen L Oliver, Sara Kivity, et al.
Nature Genetics|May 28, 2013
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1Gemma L Carvill, Sinéad B Heavin, Simone C Yendle, et al.
Brain : a Journal of Neurology|August 20, 2021
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophyEdgard Verdura, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, et al.
Neurology|December 14, 2018
<i>SYNGAP1</i> encephalopathy: A distinctive generalized developmental and epileptic encephalopathyDanique R M Vlaskamp, Benjamin J Shaw, Rosemary Burgess, et al.
Cell|July 8, 2014
Disruptive CHD8 mutations define a subtype of autism early in developmentRaphael Bernier, Christelle Golzio, Bo Xiong, et al.
Neurology|January 9, 2015
The phenotypic spectrum of SCN8A encephalopathyJan Larsen, Gemma L Carvill, Elena Gardella, et al.
Pageof 23