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Anna C Jansen

Showing results (31-40 of 97) with videos related to

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European Journal of Human Genetics : EJHG|June 4, 2015
SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathiesVéronique Bissay, Sophie C H Van Malderen, Kathelijn Keymolen, et al.
Orphanet Journal of Rare Diseases|May 2, 2019
A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus reportStéphane Auvin, John J Bissler, Vincent Cottin, et al.
Neurobiology of Disease|September 11, 2017
mTOR-related neuropathology in mutant tsc2 zebrafish: Phenotypic, transcriptomic and pharmacological analysisChloë Scheldeman, James D Mills, Aleksandra Siekierska, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 9, 2018
Management of epilepsy associated with tuberous sclerosis complex: Updated clinical recommendationsPaolo Curatolo, Rima Nabbout, Lieven Lagae, et al.
Clinical Epigenetics|November 11, 2025
A frameshift variant in activity-dependent neuroprotective protein (ADNP) causes nucleocytoskeletal alterations in a dizygotic male twin: a case studyClaudio Peter D'Incal, Anke Van Dijck, Dale John Annear, et al.
Seizure|January 22, 2026
Epilepsy phenotypes of Renu syndrome: Novel insights from a European multicentre retrospective cohort studyMario Mastrangelo, Manuela Tolve, Irene Valenzuela, et al.
Hereditary Cancer in Clinical Practice|August 7, 2019
A focused 35-minute whole body MRI screening protocol for patients with von Hippel-Lindau diseaseAnne-Marie Vanbinst, Carola Brussaard, Evelynn Vergauwen, et al.
Epilepsia|January 29, 2025
Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome-negative childhood onset epilepsyNoor Smal, Charissa Millevert, Matthias De Wachter, et al.
Hereditary Cancer in Clinical Practice|January 10, 2018
Central nervous system gadolinium accumulation in patients undergoing periodical contrast MRI screening for hereditary tumor syndromesEvelynn Vergauwen, Anne-Marie Vanbinst, Carola Brussaard, et al.
The Journal of Infectious Diseases|August 23, 2025
Genetic landscape of a cohort of children with varicella-zoster virus encephalitis, cerebellitis and strokeFranziska Winzig, Kerstin De Keukeleere, Esther Bartholomeus, et al.
Pageof 10

Showing results (31-40 of 97) with videos related to

Sort By:
Pageof 10
European Journal of Human Genetics : EJHG|June 4, 2015
SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathiesVéronique Bissay, Sophie C H Van Malderen, Kathelijn Keymolen, et al.
Orphanet Journal of Rare Diseases|May 2, 2019
A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus reportStéphane Auvin, John J Bissler, Vincent Cottin, et al.
Neurobiology of Disease|September 11, 2017
mTOR-related neuropathology in mutant tsc2 zebrafish: Phenotypic, transcriptomic and pharmacological analysisChloë Scheldeman, James D Mills, Aleksandra Siekierska, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 9, 2018
Management of epilepsy associated with tuberous sclerosis complex: Updated clinical recommendationsPaolo Curatolo, Rima Nabbout, Lieven Lagae, et al.
Clinical Epigenetics|November 11, 2025
A frameshift variant in activity-dependent neuroprotective protein (ADNP) causes nucleocytoskeletal alterations in a dizygotic male twin: a case studyClaudio Peter D'Incal, Anke Van Dijck, Dale John Annear, et al.
Seizure|January 22, 2026
Epilepsy phenotypes of Renu syndrome: Novel insights from a European multicentre retrospective cohort studyMario Mastrangelo, Manuela Tolve, Irene Valenzuela, et al.
Hereditary Cancer in Clinical Practice|August 7, 2019
A focused 35-minute whole body MRI screening protocol for patients with von Hippel-Lindau diseaseAnne-Marie Vanbinst, Carola Brussaard, Evelynn Vergauwen, et al.
Epilepsia|January 29, 2025
Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome-negative childhood onset epilepsyNoor Smal, Charissa Millevert, Matthias De Wachter, et al.
Hereditary Cancer in Clinical Practice|January 10, 2018
Central nervous system gadolinium accumulation in patients undergoing periodical contrast MRI screening for hereditary tumor syndromesEvelynn Vergauwen, Anne-Marie Vanbinst, Carola Brussaard, et al.
The Journal of Infectious Diseases|August 23, 2025
Genetic landscape of a cohort of children with varicella-zoster virus encephalitis, cerebellitis and strokeFranziska Winzig, Kerstin De Keukeleere, Esther Bartholomeus, et al.
Pageof 10