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Heather C Mefford

Showing results (101-110 of 222) with videos related to

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Human Molecular Genetics|July 14, 2009
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritanceLeanne M Dibbens, Saul Mullen, Ingo Helbig, et al.
Neurology|October 14, 2016
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsyMark A Corbett, Susannah T Bellows, Melody Li, et al.
Neurology|August 21, 2015
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizuresKatherine B Howell, Jacinta M McMahon, Gemma L Carvill, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2010
Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesityRuxandra Bachmann-Gagescu, Heather C Mefford, Charles Cowan, et al.
Scientific Reports|March 31, 2022
Mutations of the DNA repair gene PNKP in a patient with microcephaly, seizures, and developmental delay (MCSZ) presenting with a high-grade brain tumorBingcheng Jiang, Cameron Murray, Bonnie L Cole, et al.
Epilepsy Research|August 9, 2019
Genetic heterogeneity in infantile spasmsAlison M Muir, Candace T Myers, Nancy T Nguyen, et al.
Molecular Autism|November 2, 2017
Prospective investigation of FOXP1 syndromePaige M Siper, Silvia De Rubeis, Maria Del Pilar Trelles, et al.
Ebiomedicine|May 31, 2022
Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discoveryKaren L Oliver, Colin A Ellis, Ingrid E Scheffer, et al.
Molecular Genetics & Genomic Medicine|December 22, 2020
Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotypeLinda Z Rossetti, Mir Reza Bekheirnia, Andrea M Lewis, et al.
Neurology. Genetics|April 12, 2016
Epileptic spasms are a feature of DEPDC5 mTORopathyGemma L Carvill, Douglas E Crompton, Brigid M Regan, et al.
Pageof 23

Showing results (101-110 of 222) with videos related to

Sort By:
Pageof 23
Human Molecular Genetics|July 14, 2009
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritanceLeanne M Dibbens, Saul Mullen, Ingo Helbig, et al.
Neurology|October 14, 2016
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsyMark A Corbett, Susannah T Bellows, Melody Li, et al.
Neurology|August 21, 2015
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizuresKatherine B Howell, Jacinta M McMahon, Gemma L Carvill, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2010
Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesityRuxandra Bachmann-Gagescu, Heather C Mefford, Charles Cowan, et al.
Scientific Reports|March 31, 2022
Mutations of the DNA repair gene PNKP in a patient with microcephaly, seizures, and developmental delay (MCSZ) presenting with a high-grade brain tumorBingcheng Jiang, Cameron Murray, Bonnie L Cole, et al.
Epilepsy Research|August 9, 2019
Genetic heterogeneity in infantile spasmsAlison M Muir, Candace T Myers, Nancy T Nguyen, et al.
Molecular Autism|November 2, 2017
Prospective investigation of FOXP1 syndromePaige M Siper, Silvia De Rubeis, Maria Del Pilar Trelles, et al.
Ebiomedicine|May 31, 2022
Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discoveryKaren L Oliver, Colin A Ellis, Ingrid E Scheffer, et al.
Molecular Genetics & Genomic Medicine|December 22, 2020
Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotypeLinda Z Rossetti, Mir Reza Bekheirnia, Andrea M Lewis, et al.
Neurology. Genetics|April 12, 2016
Epileptic spasms are a feature of DEPDC5 mTORopathyGemma L Carvill, Douglas E Crompton, Brigid M Regan, et al.
Pageof 23