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

Adeline Vanderver

Showing results (21-30 of 217) with videos related to

Pageof 22
Sort By:
JIMD Reports|May 13, 2024
Enasidenib-induced hepatitis in an individual with Type II D2-hydroxyglutaric aciduriaJessica I Gold, Arianna K Stefanatos, Jamie L Fraser, et al.
Clinical and Translational Science|September 3, 2025
Data Sharing Experience, Guidance, and Resources From the Rare Diseases Clinical Research Network (RDCRN)Elaine Schwendeman, Henry J Kaminski, Adeline Vanderver, et al.
Plos One|November 22, 2008
A point mutation in translation initiation factor 2B leads to a continuous hyper stress state in oligodendroglial-derived cellsLiraz Kantor, Dalia Pinchasi, Michelle Mintz, et al.
American Journal of Medical Genetics. Part A|July 18, 2015
Targeted leukodystrophy diagnosis based on charges and yields for testingJackson Richards, E Kent Korgenski, Ryan J Taft, et al.
American Journal of Medical Genetics. Part A|May 7, 2021
Death rates in the U.S. due to Leukodystrophies with pediatric formsAmy L Barczykowski, Thomas J Langan, Adeline Vanderver, et al.
Neurology. Genetics|July 28, 2017
Functionally pathogenic <i>EARS2</i> variants in vitro may not manifest a phenotype in vivoNathan McNeill, Alessia Nasca, Aurelio Reyes, et al.
Methods in Molecular Biology (Clifton, N.J.)|November 18, 2010
Time series proteome profilingCatherine A Formolo, Michelle Mintz, Asako Takanohashi, et al.
Neurogenetics|January 31, 2022
Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegenerationJulia Macintosh, Alexa Derksen, Chantal Poulin, et al.
Journal of Child Neurology|September 13, 2021
Acquisition of Developmental Milestones in Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum and Other TUBB4A-Related LeukoencephalopathyFrancesco Gavazzi, Brittany A Charsar, Catherine Williams, et al.
Clinical & Developmental Immunology|December 20, 2012
Family history of autoimmune disease in patients with Aicardi-Goutières syndromeJohanna L Schmidt, Ivana Olivieri, Jodie M Vento, et al.
Pageof 22

Showing results (21-30 of 217) with videos related to

Sort By:
Pageof 22
JIMD Reports|May 13, 2024
Enasidenib-induced hepatitis in an individual with Type II D2-hydroxyglutaric aciduriaJessica I Gold, Arianna K Stefanatos, Jamie L Fraser, et al.
Clinical and Translational Science|September 3, 2025
Data Sharing Experience, Guidance, and Resources From the Rare Diseases Clinical Research Network (RDCRN)Elaine Schwendeman, Henry J Kaminski, Adeline Vanderver, et al.
Plos One|November 22, 2008
A point mutation in translation initiation factor 2B leads to a continuous hyper stress state in oligodendroglial-derived cellsLiraz Kantor, Dalia Pinchasi, Michelle Mintz, et al.
American Journal of Medical Genetics. Part A|July 18, 2015
Targeted leukodystrophy diagnosis based on charges and yields for testingJackson Richards, E Kent Korgenski, Ryan J Taft, et al.
American Journal of Medical Genetics. Part A|May 7, 2021
Death rates in the U.S. due to Leukodystrophies with pediatric formsAmy L Barczykowski, Thomas J Langan, Adeline Vanderver, et al.
Neurology. Genetics|July 28, 2017
Functionally pathogenic <i>EARS2</i> variants in vitro may not manifest a phenotype in vivoNathan McNeill, Alessia Nasca, Aurelio Reyes, et al.
Methods in Molecular Biology (Clifton, N.J.)|November 18, 2010
Time series proteome profilingCatherine A Formolo, Michelle Mintz, Asako Takanohashi, et al.
Neurogenetics|January 31, 2022
Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegenerationJulia Macintosh, Alexa Derksen, Chantal Poulin, et al.
Journal of Child Neurology|September 13, 2021
Acquisition of Developmental Milestones in Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum and Other TUBB4A-Related LeukoencephalopathyFrancesco Gavazzi, Brittany A Charsar, Catherine Williams, et al.
Clinical & Developmental Immunology|December 20, 2012
Family history of autoimmune disease in patients with Aicardi-Goutières syndromeJohanna L Schmidt, Ivana Olivieri, Jodie M Vento, et al.
Pageof 22