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

Christiane Kehrer

Showing results (21-30 of 26) with videos related to

Pageof 3
Sort By:
You have reached the last page of results.This site can display upto 26 results.
Journal of Inherited Metabolic Disease|August 5, 2020
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare diseaseLaura A Adang, Lars Schlotawa, Samuel Groeschel, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 7, 2025
Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophyDaphne H Schoenmakers, Marije A B C Asbreuk, Tamara Martin, et al.
Molecular Genetics and Metabolism|July 4, 2024
Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophyLaura Ann Adang, Samuel Groeschel, Chloe Grzyb, et al.
Nature Communications|February 14, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxiaBenita Menden, Rana D Incebacak Eltemur, German Demidov, et al.
Nature Genetics|July 22, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.
Nature Genetics|June 24, 2025
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.
Pageof 3

Showing results (21-30 of 26) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 26 results.
Journal of Inherited Metabolic Disease|August 5, 2020
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare diseaseLaura A Adang, Lars Schlotawa, Samuel Groeschel, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 7, 2025
Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophyDaphne H Schoenmakers, Marije A B C Asbreuk, Tamara Martin, et al.
Molecular Genetics and Metabolism|July 4, 2024
Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophyLaura Ann Adang, Samuel Groeschel, Chloe Grzyb, et al.
Nature Communications|February 14, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxiaBenita Menden, Rana D Incebacak Eltemur, German Demidov, et al.
Nature Genetics|July 22, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.
Nature Genetics|June 24, 2025
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.
Pageof 3