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Heather C Mefford

Showing results (141-150 of 222) with videos related to

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Epilepsia|January 7, 2021
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathyAlexandre N Datta, Nadia Bahi-Buisson, Thierry Bienvenu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 18, 2018
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variantsJennifer N Dines, Katie Golden-Grant, Amy LaCroix, et al.
Journal of Medical Genetics|December 20, 2011
Further clinical and molecular delineation of the 15q24 microdeletion syndromeHeather C Mefford, Jill A Rosenfeld, Natasha Shur, et al.
American Journal of Medical Genetics. Part A|October 1, 2015
Recurrent duplications of 17q12 associated with variable phenotypesElyse Mitchell, Andrew Douglas, Susanne Kjaegaard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2018
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variantsJennifer N Dines, Katie Golden-Grant, Amy LaCroix, et al.
Annals of Neurology|August 3, 2024
Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS)Sindhu Viswanathan, Karen L Oliver, Brigid M Regan, et al.
Ebiomedicine|July 3, 2022
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanismFrancesco Miceli, Charissa Millevert, Maria Virginia Soldovieri, et al.
Epilepsia|January 21, 2021
The severe epilepsy syndromes of infancy: A population-based studyKatherine B Howell, Jeremy L Freeman, Mark T Mackay, et al.
American Journal of Human Genetics|September 26, 2017
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with SeizuresCandace T Myers, Nicholas Stong, Emily I Mountier, et al.
Human Molecular Genetics|January 28, 2014
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosisHilary C Martin, Grace E Kim, Alistair T Pagnamenta, et al.
Pageof 23

Showing results (141-150 of 222) with videos related to

Sort By:
Pageof 23
Epilepsia|January 7, 2021
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathyAlexandre N Datta, Nadia Bahi-Buisson, Thierry Bienvenu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 18, 2018
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variantsJennifer N Dines, Katie Golden-Grant, Amy LaCroix, et al.
Journal of Medical Genetics|December 20, 2011
Further clinical and molecular delineation of the 15q24 microdeletion syndromeHeather C Mefford, Jill A Rosenfeld, Natasha Shur, et al.
American Journal of Medical Genetics. Part A|October 1, 2015
Recurrent duplications of 17q12 associated with variable phenotypesElyse Mitchell, Andrew Douglas, Susanne Kjaegaard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2018
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variantsJennifer N Dines, Katie Golden-Grant, Amy LaCroix, et al.
Annals of Neurology|August 3, 2024
Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS)Sindhu Viswanathan, Karen L Oliver, Brigid M Regan, et al.
Ebiomedicine|July 3, 2022
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanismFrancesco Miceli, Charissa Millevert, Maria Virginia Soldovieri, et al.
Epilepsia|January 21, 2021
The severe epilepsy syndromes of infancy: A population-based studyKatherine B Howell, Jeremy L Freeman, Mark T Mackay, et al.
American Journal of Human Genetics|September 26, 2017
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with SeizuresCandace T Myers, Nicholas Stong, Emily I Mountier, et al.
Human Molecular Genetics|January 28, 2014
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosisHilary C Martin, Grace E Kim, Alistair T Pagnamenta, et al.
Pageof 23