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Heather C Mefford

Showing results (81-90 of 222) with videos related to

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Neurology. Genetics|April 29, 2021
Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental DisorderKenneth A Myers, Carla Marini, Gemma L Carvill, et al.
Genome Biology|December 14, 2022
STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel lociHarriet Dashnow, Brent S Pedersen, Laurel Hiatt, et al.
Biorxiv : the Preprint Server for Biology|May 19, 2023
Long-read sequencing and profiling of RNA-binding proteins reveals the pathogenic mechanism of aberrant splicing of an <i>SCN1A</i> poison exon in epilepsyHannah C Happ, Patricia N Schneider, Jung Hwa Hong, et al.
Epilepsy Research|October 1, 2015
Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsyJohn A Damiano, Saul A Mullen, Michael S Hildebrand, et al.
The New England Journal of Medicine|April 26, 2018
Parental Mosaicism in "De Novo" Epileptic EncephalopathiesCandace T Myers, Georgina Hollingsworth, Alison M Muir, et al.
Science Translational Medicine|May 7, 2025
Patient-derived models of <i>UBA5-</i>associated encephalopathy identify defects in neurodevelopment and highlight potential therapeutic avenuesHelen Chen, Christy W LaFlamme, Yong-Dong Wang, et al.
Therapeutic Advances in Rare Disease|July 31, 2024
Koolen-de Vries Syndrome: a journey from diagnosis to treatmentsAnna C Pfalzer, Blake Ivers, Alayna Haynam, et al.
Neurology|August 11, 2017
Not all <i>SCN1A</i> epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotypeLynette G Sadleir, Emily I Mountier, Deepak Gill, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2022
Precision medicine for developmental and epileptic encephalopathies in Africa-strategies for a resource-limited settingAlina I Esterhuizen, Nicki Tiffin, Gillian Riordan, et al.
Plos Genetics|May 27, 2010
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsiesHeather C Mefford, Hiltrud Muhle, Philipp Ostertag, et al.
Pageof 23

Showing results (81-90 of 222) with videos related to

Sort By:
Pageof 23
Neurology. Genetics|April 29, 2021
Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental DisorderKenneth A Myers, Carla Marini, Gemma L Carvill, et al.
Genome Biology|December 14, 2022
STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel lociHarriet Dashnow, Brent S Pedersen, Laurel Hiatt, et al.
Biorxiv : the Preprint Server for Biology|May 19, 2023
Long-read sequencing and profiling of RNA-binding proteins reveals the pathogenic mechanism of aberrant splicing of an <i>SCN1A</i> poison exon in epilepsyHannah C Happ, Patricia N Schneider, Jung Hwa Hong, et al.
Epilepsy Research|October 1, 2015
Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsyJohn A Damiano, Saul A Mullen, Michael S Hildebrand, et al.
The New England Journal of Medicine|April 26, 2018
Parental Mosaicism in "De Novo" Epileptic EncephalopathiesCandace T Myers, Georgina Hollingsworth, Alison M Muir, et al.
Science Translational Medicine|May 7, 2025
Patient-derived models of <i>UBA5-</i>associated encephalopathy identify defects in neurodevelopment and highlight potential therapeutic avenuesHelen Chen, Christy W LaFlamme, Yong-Dong Wang, et al.
Therapeutic Advances in Rare Disease|July 31, 2024
Koolen-de Vries Syndrome: a journey from diagnosis to treatmentsAnna C Pfalzer, Blake Ivers, Alayna Haynam, et al.
Neurology|August 11, 2017
Not all <i>SCN1A</i> epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotypeLynette G Sadleir, Emily I Mountier, Deepak Gill, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2022
Precision medicine for developmental and epileptic encephalopathies in Africa-strategies for a resource-limited settingAlina I Esterhuizen, Nicki Tiffin, Gillian Riordan, et al.
Plos Genetics|May 27, 2010
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsiesHeather C Mefford, Hiltrud Muhle, Philipp Ostertag, et al.
Pageof 23