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Heather C Mefford

Showing results (51-60 of 222) with videos related to

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The New England Journal of Medicine|February 19, 2025
Risdiplam for Prenatal Therapy of Spinal Muscular AtrophyRichard S Finkel, Samuel H Hughes, JulieAnn Parker, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 14, 2020
Levetiracetam efficacy in PCDH19 Girls Clustering EpilepsyLynette G Sadleir, Kristy L Kolc, Chontelle King, et al.
Molecular Autism|October 17, 2017
Clinical phenotype of ASD-associated <i>DYRK1A</i> haploinsufficiencyRachel K Earl, Tychele N Turner, Heather C Mefford, et al.
American Journal of Medical Genetics. Part A|October 14, 2016
Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22Heather M Byers, Margaret P Adam, Amy LaCroix, et al.
Neurology. Genetics|May 16, 2019
Double somatic mosaicism in a child with Dravet syndromeAlison M Muir, Chontelle King, Amy L Schneider, et al.
American Journal of Medical Genetics. Part A|December 5, 2018
Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsyXiuhua Bozarth, Jennifer N Dines, Qian Cong, et al.
Epilepsy Currents|January 23, 2020
Epilepsy Benchmarks Area III: Improved Treatment Options for Controlling Seizures and Epilepsy-Related Conditions Without Side EffectsStephen F Traynelis, Dennis Dlugos, David Henshall, et al.
Epilepsy Research|July 12, 2019
Somatic mutation: The hidden genetics of brain malformations and focal epilepsiesZimeng Ye, Lara McQuillan, Annapurna Poduri, et al.
Biorxiv : the Preprint Server for Biology|February 8, 2024
Patient derived model of <i>UBA5</i>-associated encephalopathy identifies defects in neurodevelopment and highlights potential therapiesHelen Chen, Yong-Dong Wang, Aidan W Blan, et al.
Neurology|July 31, 2015
Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombinationHeather C Mefford, Matthew Zemel, Eileen Geraghty, et al.
Pageof 23

Showing results (51-60 of 222) with videos related to

Sort By:
Pageof 23
The New England Journal of Medicine|February 19, 2025
Risdiplam for Prenatal Therapy of Spinal Muscular AtrophyRichard S Finkel, Samuel H Hughes, JulieAnn Parker, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 14, 2020
Levetiracetam efficacy in PCDH19 Girls Clustering EpilepsyLynette G Sadleir, Kristy L Kolc, Chontelle King, et al.
Molecular Autism|October 17, 2017
Clinical phenotype of ASD-associated <i>DYRK1A</i> haploinsufficiencyRachel K Earl, Tychele N Turner, Heather C Mefford, et al.
American Journal of Medical Genetics. Part A|October 14, 2016
Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22Heather M Byers, Margaret P Adam, Amy LaCroix, et al.
Neurology. Genetics|May 16, 2019
Double somatic mosaicism in a child with Dravet syndromeAlison M Muir, Chontelle King, Amy L Schneider, et al.
American Journal of Medical Genetics. Part A|December 5, 2018
Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsyXiuhua Bozarth, Jennifer N Dines, Qian Cong, et al.
Epilepsy Currents|January 23, 2020
Epilepsy Benchmarks Area III: Improved Treatment Options for Controlling Seizures and Epilepsy-Related Conditions Without Side EffectsStephen F Traynelis, Dennis Dlugos, David Henshall, et al.
Epilepsy Research|July 12, 2019
Somatic mutation: The hidden genetics of brain malformations and focal epilepsiesZimeng Ye, Lara McQuillan, Annapurna Poduri, et al.
Biorxiv : the Preprint Server for Biology|February 8, 2024
Patient derived model of <i>UBA5</i>-associated encephalopathy identifies defects in neurodevelopment and highlights potential therapiesHelen Chen, Yong-Dong Wang, Aidan W Blan, et al.
Neurology|July 31, 2015
Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombinationHeather C Mefford, Matthew Zemel, Eileen Geraghty, et al.
Pageof 23