Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

C Jansen

Showing results (1171-1180 of 1,230) with videos related to

Pageof 123
Sort By:
European Journal of Endocrinology|May 12, 2017
The phenotype of <i>SDHB</i> germline mutation carriers: a nationwide studyNicolasine D Niemeijer, Johannes A Rijken, Karin Eijkelenkamp, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 29, 2020
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP studyBarbara Ogórek, Lana Hamieh, Hanna M Hulshof, et al.
Cancers|January 20, 2019
Increased Mortality in <i>SDHB</i> but Not in <i>SDHD</i> Pathogenic Variant CarriersJohannes A Rijken, Leonie T van Hulsteijn, Olaf M Dekkers, et al.
Nature Reviews. Neurology|September 8, 2020
International consensus recommendations on the diagnostic work-up for malformations of cortical developmentRenske Oegema, Tahsin Stefan Barakat, Martina Wilke, et al.
Frontiers in Neurology|September 27, 2021
Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA RegistryRima Nabbout, Elena Belousova, Mirjana P Benedik, et al.
Frontiers in Neurology|October 12, 2020
Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal AngiomyolipomasJ Chris Kingswood, Elena Belousova, Mirjana P Benedik, et al.
Frontiers in Neurology|December 5, 2019
The TOSCA Registry for Tuberous Sclerosis-Lessons Learnt for Future Registry Development in Rare and Complex DiseasesRuben Marques, Elena Belousova, Mirjana P Benedik, et al.
Journal of Neurodevelopmental Disorders|September 3, 2020
Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research projectPetrus J de Vries, Elena Belousova, Mirjana P Benedik, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|October 9, 2013
PRRT2 mutations: exploring the phenotypical boundariesTania Djémié, Sarah Weckhuysen, Philip Holmgren, et al.
Journal of Medical Genetics|April 8, 2022
Overlapping cortical malformations in patients with pathogenic variants in <i>GRIN1</i> and <i>GRIN2B</i>Stefanie Brock, Annie Laquerriere, Florent Marguet, et al.
Pageof 123

Showing results (1171-1180 of 1,230) with videos related to

Sort By:
Pageof 123
European Journal of Endocrinology|May 12, 2017
The phenotype of <i>SDHB</i> germline mutation carriers: a nationwide studyNicolasine D Niemeijer, Johannes A Rijken, Karin Eijkelenkamp, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 29, 2020
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP studyBarbara Ogórek, Lana Hamieh, Hanna M Hulshof, et al.
Cancers|January 20, 2019
Increased Mortality in <i>SDHB</i> but Not in <i>SDHD</i> Pathogenic Variant CarriersJohannes A Rijken, Leonie T van Hulsteijn, Olaf M Dekkers, et al.
Nature Reviews. Neurology|September 8, 2020
International consensus recommendations on the diagnostic work-up for malformations of cortical developmentRenske Oegema, Tahsin Stefan Barakat, Martina Wilke, et al.
Frontiers in Neurology|September 27, 2021
Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA RegistryRima Nabbout, Elena Belousova, Mirjana P Benedik, et al.
Frontiers in Neurology|October 12, 2020
Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal AngiomyolipomasJ Chris Kingswood, Elena Belousova, Mirjana P Benedik, et al.
Frontiers in Neurology|December 5, 2019
The TOSCA Registry for Tuberous Sclerosis-Lessons Learnt for Future Registry Development in Rare and Complex DiseasesRuben Marques, Elena Belousova, Mirjana P Benedik, et al.
Journal of Neurodevelopmental Disorders|September 3, 2020
Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research projectPetrus J de Vries, Elena Belousova, Mirjana P Benedik, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|October 9, 2013
PRRT2 mutations: exploring the phenotypical boundariesTania Djémié, Sarah Weckhuysen, Philip Holmgren, et al.
Journal of Medical Genetics|April 8, 2022
Overlapping cortical malformations in patients with pathogenic variants in <i>GRIN1</i> and <i>GRIN2B</i>Stefanie Brock, Annie Laquerriere, Florent Marguet, et al.
Pageof 123