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Ingrid E Scheffer

Showing results (541-550 of 586) with videos related to

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The Lancet. Neurology|October 5, 2007
Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control studyGianpiero L Cavalleri, Michael E Weale, Kevin V Shianna, et al.
American Journal of Human Genetics|July 31, 2018
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental DisorderAnne Gregor, Lynette G Sadleir, Reza Asadollahi, et al.
Nature Genetics|September 15, 2014
Refining analyses of copy number variation identifies specific genes associated with developmental delayBradley P Coe, Kali Witherspoon, Jill A Rosenfeld, et al.
Nature Genetics|November 18, 2014
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsyMikko Muona, Samuel F Berkovic, Leanne M Dibbens, et al.
Medrxiv : the Preprint Server for Health Sciences|April 10, 2023
Rare variants in <i>PPFIA3</i> cause delayed development, intellectual disability, autism, and epilepsyMaimuna S Paul, Sydney L Michener, Hongling Pan, et al.
Nature Genetics|July 31, 2012
De novo mutations in ATP1A3 cause alternating hemiplegia of childhoodErin L Heinzen, Kathryn J Swoboda, Yuki Hitomi, et al.
Molecular Genetics & Genomic Medicine|July 29, 2016
Pitfalls in genetic testing: the story of missed SCN1A mutationsTania Djémié, Sarah Weckhuysen, Sarah von Spiczak, et al.
Neurology|September 11, 2020
Cardiac phenotype in <i>ATP1A3</i>-related syndromes: A multicenter cohort studySimona Balestrini, Mohamad A Mikati, Reyes Álvarez-García-Rovés, et al.
Brain : a Journal of Neurology|March 19, 2015
CHD2 variants are a risk factor for photosensitivity in epilepsyElizabeth C Galizia, Candace T Myers, Costin Leu, et al.
Epilepsia Open|June 1, 2026
On-site exposure to clinical epilepsy practice for experimental scientists engaged in epilepsy research: A pilot study by the ILAE commission on neurobiologyMarco de Curtis, Giulia Battaglia, Gustavo Aguado-Carrillo, et al.
Pageof 59

Showing results (541-550 of 586) with videos related to

Sort By:
Pageof 59
The Lancet. Neurology|October 5, 2007
Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control studyGianpiero L Cavalleri, Michael E Weale, Kevin V Shianna, et al.
American Journal of Human Genetics|July 31, 2018
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental DisorderAnne Gregor, Lynette G Sadleir, Reza Asadollahi, et al.
Nature Genetics|September 15, 2014
Refining analyses of copy number variation identifies specific genes associated with developmental delayBradley P Coe, Kali Witherspoon, Jill A Rosenfeld, et al.
Nature Genetics|November 18, 2014
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsyMikko Muona, Samuel F Berkovic, Leanne M Dibbens, et al.
Medrxiv : the Preprint Server for Health Sciences|April 10, 2023
Rare variants in <i>PPFIA3</i> cause delayed development, intellectual disability, autism, and epilepsyMaimuna S Paul, Sydney L Michener, Hongling Pan, et al.
Nature Genetics|July 31, 2012
De novo mutations in ATP1A3 cause alternating hemiplegia of childhoodErin L Heinzen, Kathryn J Swoboda, Yuki Hitomi, et al.
Molecular Genetics & Genomic Medicine|July 29, 2016
Pitfalls in genetic testing: the story of missed SCN1A mutationsTania Djémié, Sarah Weckhuysen, Sarah von Spiczak, et al.
Neurology|September 11, 2020
Cardiac phenotype in <i>ATP1A3</i>-related syndromes: A multicenter cohort studySimona Balestrini, Mohamad A Mikati, Reyes Álvarez-García-Rovés, et al.
Brain : a Journal of Neurology|March 19, 2015
CHD2 variants are a risk factor for photosensitivity in epilepsyElizabeth C Galizia, Candace T Myers, Costin Leu, et al.
Epilepsia Open|June 1, 2026
On-site exposure to clinical epilepsy practice for experimental scientists engaged in epilepsy research: A pilot study by the ILAE commission on neurobiologyMarco de Curtis, Giulia Battaglia, Gustavo Aguado-Carrillo, et al.
Pageof 59