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Ingrid E Scheffer

Showing results (551-560 of 586) with videos related to

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Nature Genetics|February 14, 2017
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biasesHolly A F Stessman, Bo Xiong, Bradley P Coe, et al.
Nature Genetics|May 13, 2008
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairmentLeanne M Dibbens, Patrick S Tarpey, Kim Hynes, et al.
The Journal of Clinical Investigation|November 25, 2025
Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessiveKatrine M Johannesen, Khaing Phyu Aung, Vivian Wy Liao, et al.
Neurology|October 28, 2022
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of <i>KCNH5</i>Hannah C Happ, Lynette G Sadleir, Matthew Zemel, et al.
Medrxiv : the Preprint Server for Health Sciences|October 24, 2023
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 EpisignatureChristy W LaFlamme, Cassandra Rastin, Soham Sengupta, et al.
Neurology|June 26, 2025
Phenotypic Spectrum in Individuals With Pathogenic <i>GABRG2</i> Loss- and Gain-of-Function VariantsAlessandra Rossi, Susan X N Lin, Nathan L Absalom, et al.
Journal of Inherited Metabolic Disease|July 19, 2020
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestionsBobby G Ng, Erik A Eklund, Sergey A Shiryaev, et al.
American Journal of Human Genetics|March 3, 2023
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcareZornitza Stark, Tiffany Boughtwood, Matilda Haas, et al.
Epilepsia|January 17, 2012
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies, Costin Leu, Carolien G F de Kovel, et al.
Epilepsia|September 21, 2020
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcomeClaire Bar, Mathieu Kuchenbuch, Giulia Barcia, et al.
Pageof 59

Showing results (551-560 of 586) with videos related to

Sort By:
Pageof 59
Nature Genetics|February 14, 2017
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biasesHolly A F Stessman, Bo Xiong, Bradley P Coe, et al.
Nature Genetics|May 13, 2008
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairmentLeanne M Dibbens, Patrick S Tarpey, Kim Hynes, et al.
The Journal of Clinical Investigation|November 25, 2025
Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessiveKatrine M Johannesen, Khaing Phyu Aung, Vivian Wy Liao, et al.
Neurology|October 28, 2022
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of <i>KCNH5</i>Hannah C Happ, Lynette G Sadleir, Matthew Zemel, et al.
Medrxiv : the Preprint Server for Health Sciences|October 24, 2023
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 EpisignatureChristy W LaFlamme, Cassandra Rastin, Soham Sengupta, et al.
Neurology|June 26, 2025
Phenotypic Spectrum in Individuals With Pathogenic <i>GABRG2</i> Loss- and Gain-of-Function VariantsAlessandra Rossi, Susan X N Lin, Nathan L Absalom, et al.
Journal of Inherited Metabolic Disease|July 19, 2020
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestionsBobby G Ng, Erik A Eklund, Sergey A Shiryaev, et al.
American Journal of Human Genetics|March 3, 2023
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcareZornitza Stark, Tiffany Boughtwood, Matilda Haas, et al.
Epilepsia|January 17, 2012
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies, Costin Leu, Carolien G F de Kovel, et al.
Epilepsia|September 21, 2020
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcomeClaire Bar, Mathieu Kuchenbuch, Giulia Barcia, et al.
Pageof 59