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

Matias Wagner

Showing results (121-130 of 188) with videos related to

Pageof 19
Sort By:
Nutrients|September 9, 2022
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate CarrierBigna K Bölsterli, Eugen Boltshauser, Luigi Palmieri, et al.
Clinical Genetics|February 23, 2021
De novo variants in neurodevelopmental disorders-experiences from a tertiary care centerTheresa Brunet, Robert Jech, Melanie Brugger, et al.
Molecular Psychiatry|September 25, 2021
Clinico-genetic findings in 509 frontotemporal dementia patientsMatias Wagner, Georg Lorenz, Alexander E Volk, et al.
Molecular Genetics and Metabolism|January 20, 2024
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated diseaseNicole Hammann, Dominic Lenz, Ivo Baric, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2023
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorderReza Maroofian, Mina Zamani, Rauan Kaiyrzhanov, et al.
Annals of Neurology|December 26, 2021
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic PhenotypesMichael Zech, Robert Kopajtich, Katja Steinbrücker, et al.
Ebiomedicine|June 29, 2026
Trio analysis in dystonia identifies de novo KLC1 variants in a kinesinopathy with distinct motor and neurodevelopmental featuresElisa Peirano, Laura O'Regan, Philip Harrer, et al.
American Journal of Human Genetics|July 7, 2018
Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational FunctionZhiwen Xu, Wing-Sze Lo, David B Beck, et al.
Journal of Medical Genetics|October 17, 2021
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypesLucia Laugwitz, Annette Seibt, Diran Herebian, et al.
American Journal of Human Genetics|November 24, 2020
DAAM2 Variants Cause Nephrotic Syndrome via Actin DysregulationRonen Schneider, Konstantin Deutsch, Gregory J Hoeprich, et al.
Pageof 19

Showing results (121-130 of 188) with videos related to

Sort By:
Pageof 19
Nutrients|September 9, 2022
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate CarrierBigna K Bölsterli, Eugen Boltshauser, Luigi Palmieri, et al.
Clinical Genetics|February 23, 2021
De novo variants in neurodevelopmental disorders-experiences from a tertiary care centerTheresa Brunet, Robert Jech, Melanie Brugger, et al.
Molecular Psychiatry|September 25, 2021
Clinico-genetic findings in 509 frontotemporal dementia patientsMatias Wagner, Georg Lorenz, Alexander E Volk, et al.
Molecular Genetics and Metabolism|January 20, 2024
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated diseaseNicole Hammann, Dominic Lenz, Ivo Baric, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2023
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorderReza Maroofian, Mina Zamani, Rauan Kaiyrzhanov, et al.
Annals of Neurology|December 26, 2021
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic PhenotypesMichael Zech, Robert Kopajtich, Katja Steinbrücker, et al.
Ebiomedicine|June 29, 2026
Trio analysis in dystonia identifies de novo KLC1 variants in a kinesinopathy with distinct motor and neurodevelopmental featuresElisa Peirano, Laura O'Regan, Philip Harrer, et al.
American Journal of Human Genetics|July 7, 2018
Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational FunctionZhiwen Xu, Wing-Sze Lo, David B Beck, et al.
Journal of Medical Genetics|October 17, 2021
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypesLucia Laugwitz, Annette Seibt, Diran Herebian, et al.
American Journal of Human Genetics|November 24, 2020
DAAM2 Variants Cause Nephrotic Syndrome via Actin DysregulationRonen Schneider, Konstantin Deutsch, Gregory J Hoeprich, et al.
Pageof 19