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Heather C Mefford

Showing results (71-80 of 222) with videos related to

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Epileptic Disorders : International Epilepsy Journal with Videotape|April 13, 2019
SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plusFrancesca Bisulli, Laura Licchetta, Sara Baldassari, et al.
American Journal of Medical Genetics. Part A|August 5, 2010
Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosisHeather C Mefford, Neil Shafer, Francesca Antonacci, et al.
Human Molecular Genetics|May 1, 2014
The genetic landscape of infantile spasmsJacques L Michaud, Mathieu Lachance, Fadi F Hamdan, et al.
Epilepsia|May 12, 2018
A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancyKatherine B Howell, Stefanie Eggers, Kim Dalziel, et al.
Neurology|February 13, 2015
CHD2 myoclonic encephalopathy is frequently associated with self-induced seizuresRhys H Thomas, Lin Mei Zhang, Gemma L Carvill, et al.
American Journal of Human Genetics|October 10, 2007
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsyHeather C Mefford, Severine Clauin, Andrew J Sharp, et al.
Developmental Medicine and Child Neurology|July 11, 2021
Genetic convergence of developmental and epileptic encephalopathies and intellectual disabilityGemma L Carvill, Sandra Jansen, Amy Lacroix, et al.
Epilepsia|March 13, 2020
Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsyLynette G Sadleir, Guillem de Valles-Ibáñez, Chontelle King, et al.
Biological Psychiatry|September 19, 2019
Clinical Phenotypes of Carriers of Mutations in CHD8 or Its Conserved Target GenesJennifer S Beighley, Caitlin M Hudac, Anne B Arnett, et al.
Developmental Medicine and Child Neurology|December 24, 2019
BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizuresIngrid E Scheffer, Katja E Boysen, Amy L Schneider, et al.
Pageof 23

Showing results (71-80 of 222) with videos related to

Sort By:
Pageof 23
Epileptic Disorders : International Epilepsy Journal with Videotape|April 13, 2019
SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plusFrancesca Bisulli, Laura Licchetta, Sara Baldassari, et al.
American Journal of Medical Genetics. Part A|August 5, 2010
Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosisHeather C Mefford, Neil Shafer, Francesca Antonacci, et al.
Human Molecular Genetics|May 1, 2014
The genetic landscape of infantile spasmsJacques L Michaud, Mathieu Lachance, Fadi F Hamdan, et al.
Epilepsia|May 12, 2018
A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancyKatherine B Howell, Stefanie Eggers, Kim Dalziel, et al.
Neurology|February 13, 2015
CHD2 myoclonic encephalopathy is frequently associated with self-induced seizuresRhys H Thomas, Lin Mei Zhang, Gemma L Carvill, et al.
American Journal of Human Genetics|October 10, 2007
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsyHeather C Mefford, Severine Clauin, Andrew J Sharp, et al.
Developmental Medicine and Child Neurology|July 11, 2021
Genetic convergence of developmental and epileptic encephalopathies and intellectual disabilityGemma L Carvill, Sandra Jansen, Amy Lacroix, et al.
Epilepsia|March 13, 2020
Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsyLynette G Sadleir, Guillem de Valles-Ibáñez, Chontelle King, et al.
Biological Psychiatry|September 19, 2019
Clinical Phenotypes of Carriers of Mutations in CHD8 or Its Conserved Target GenesJennifer S Beighley, Caitlin M Hudac, Anne B Arnett, et al.
Developmental Medicine and Child Neurology|December 24, 2019
BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizuresIngrid E Scheffer, Katja E Boysen, Amy L Schneider, et al.
Pageof 23