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Ingrid E Scheffer

Showing results (521-530 of 586) with videos related to

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Neuron|February 26, 2020
Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant LissencephalyMeng-Han Tsai, Alison M Muir, Won-Jing Wang, et al.
American Journal of Human Genetics|April 2, 2021
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genesCarolina Courage, Karen L Oliver, Eon Joo Park, et al.
Brain : a Journal of Neurology|August 23, 2015
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotypeFatima Jaffer, Andreja Avbersek, Rosaria Vavassori, et al.
Annals of Neurology|June 29, 2021
Pathogenic MAST3 Variants in the STK Domain Are Associated with EpilepsyEgidio Spinelli, Kyle R Christensen, Emily Bryant, et al.
Brain : a Journal of Neurology|November 17, 2023
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40Angela T Morgan, Thomas S Scerri, Adam P Vogel, et al.
Nature Communications|October 10, 2025
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorderMaggie M K Wong, Rosalie A Kampen, Ruth O Braden, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 10, 2022
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorderYoeri Sleyp, Irene Valenzuela, Andrea Accogli, et al.
Nature Genetics|April 2, 2013
Mutations in DEPDC5 cause familial focal epilepsy with variable fociLeanne M Dibbens, Boukje de Vries, Simona Donatello, et al.
JAMA Neurology|May 1, 2023
Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe EpilepsySattar Khoshkhoo, Yilan Wang, Yasmine Chahine, et al.
Journal of Medical Genetics|July 5, 2022
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylationShino Shimada, Bobby G Ng, Amy L White, et al.
Pageof 59

Showing results (521-530 of 586) with videos related to

Sort By:
Pageof 59
Neuron|February 26, 2020
Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant LissencephalyMeng-Han Tsai, Alison M Muir, Won-Jing Wang, et al.
American Journal of Human Genetics|April 2, 2021
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genesCarolina Courage, Karen L Oliver, Eon Joo Park, et al.
Brain : a Journal of Neurology|August 23, 2015
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotypeFatima Jaffer, Andreja Avbersek, Rosaria Vavassori, et al.
Annals of Neurology|June 29, 2021
Pathogenic MAST3 Variants in the STK Domain Are Associated with EpilepsyEgidio Spinelli, Kyle R Christensen, Emily Bryant, et al.
Brain : a Journal of Neurology|November 17, 2023
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40Angela T Morgan, Thomas S Scerri, Adam P Vogel, et al.
Nature Communications|October 10, 2025
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorderMaggie M K Wong, Rosalie A Kampen, Ruth O Braden, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 10, 2022
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorderYoeri Sleyp, Irene Valenzuela, Andrea Accogli, et al.
Nature Genetics|April 2, 2013
Mutations in DEPDC5 cause familial focal epilepsy with variable fociLeanne M Dibbens, Boukje de Vries, Simona Donatello, et al.
JAMA Neurology|May 1, 2023
Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe EpilepsySattar Khoshkhoo, Yilan Wang, Yasmine Chahine, et al.
Journal of Medical Genetics|July 5, 2022
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylationShino Shimada, Bobby G Ng, Amy L White, et al.
Pageof 59