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Ingrid E Scheffer

Showing results (441-450 of 586) with videos related to

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Epilepsia Open|August 24, 2019
Epidemiology and etiology of infantile developmental and epileptic encephalopathies in TasmaniaTyson L Ware, Shannon R Huskins, Bronwyn E Grinton, et al.
Epilepsia|March 14, 2025
Variants in ATP6V0C are associated with Dravet-like developmental and epileptic encephalopathyMarlene Rong, Paula T Marques, Quratulain Zulfiqar Ali, et al.
Brain Communications|March 19, 2021
Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brainZimeng Ye, Zac Chatterton, Jahnvi Pflueger, et al.
Brain : a Journal of Neurology|July 2, 2011
Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathologyClaudia B Catarino, Joan Y W Liu, Ioannis Liagkouras, et al.
Epilepsia|May 19, 2015
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcomeBronwyn E Grinton, Sarah E Heron, James T Pelekanos, et al.
Brain : a Journal of Neurology|March 10, 2007
The spectrum of SCN1A-related infantile epileptic encephalopathiesLouise A Harkin, Jacinta M McMahon, Xenia Iona, et al.
Genome Research|March 20, 2025
Optical genome mapping enables accurate testing of large repeat expansionsBart van der Sanden, Kornelia Neveling, Syukri Shukor, et al.
Brain Communications|March 6, 2024
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformationsDaniz Kooshavar, David J Amor, Kirsten Boggs, et al.
Neurology|May 26, 2021
Association of <i>SLC32A1</i> Missense Variants With Genetic Epilepsy With Febrile Seizures PlusSarah E Heron, Brigid M Regan, Rebekah V Harris, et al.
European Journal of Human Genetics : EJHG|November 29, 2022
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disabilityDavid I Francis, Zornitza Stark, Ingrid E Scheffer, et al.
Pageof 59

Showing results (441-450 of 586) with videos related to

Sort By:
Pageof 59
Epilepsia Open|August 24, 2019
Epidemiology and etiology of infantile developmental and epileptic encephalopathies in TasmaniaTyson L Ware, Shannon R Huskins, Bronwyn E Grinton, et al.
Epilepsia|March 14, 2025
Variants in ATP6V0C are associated with Dravet-like developmental and epileptic encephalopathyMarlene Rong, Paula T Marques, Quratulain Zulfiqar Ali, et al.
Brain Communications|March 19, 2021
Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brainZimeng Ye, Zac Chatterton, Jahnvi Pflueger, et al.
Brain : a Journal of Neurology|July 2, 2011
Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathologyClaudia B Catarino, Joan Y W Liu, Ioannis Liagkouras, et al.
Epilepsia|May 19, 2015
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcomeBronwyn E Grinton, Sarah E Heron, James T Pelekanos, et al.
Brain : a Journal of Neurology|March 10, 2007
The spectrum of SCN1A-related infantile epileptic encephalopathiesLouise A Harkin, Jacinta M McMahon, Xenia Iona, et al.
Genome Research|March 20, 2025
Optical genome mapping enables accurate testing of large repeat expansionsBart van der Sanden, Kornelia Neveling, Syukri Shukor, et al.
Brain Communications|March 6, 2024
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformationsDaniz Kooshavar, David J Amor, Kirsten Boggs, et al.
Neurology|May 26, 2021
Association of <i>SLC32A1</i> Missense Variants With Genetic Epilepsy With Febrile Seizures PlusSarah E Heron, Brigid M Regan, Rebekah V Harris, et al.
European Journal of Human Genetics : EJHG|November 29, 2022
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disabilityDavid I Francis, Zornitza Stark, Ingrid E Scheffer, et al.
Pageof 59