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 (131-140 of 188) with videos related to

Pageof 19
Sort By:
Movement Disorders : Official Journal of the Movement Disorder Society|May 5, 2021
Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation StudyMichael Zech, Robert Jech, Sylvia Boesch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 27, 2020
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonusMatias Wagner, Jonathan Lévy, Sabine Jung-Klawitter, et al.
American Journal of Human Genetics|February 29, 2024
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophyMelanie Brugger, Antonella Lauri, Yan Zhen, et al.
European Journal of Human Genetics : EJHG|December 31, 2024
RICTOR variants are associated with neurodevelopmental disordersRaphael Carapito, Anne Molitor, Lisa Pavinato, et al.
Neurology. Genetics|April 15, 2024
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic <i>HK1</i> VariantsSaskia B Wortmann, Rene G Feichtinger, Lucia Abela, et al.
Annals of Neurology|February 2, 2026
Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia CohortAlice Saparov, Ivana Dzinovic, Theresa Brunet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 24, 2020
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1Dominic Lenz, Desirée E C Smith, Ellen Crushell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 2, 2022
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorderMarije Meuwissen, Aline Verstraeten, Emmanuelle Ranza, et al.
American Journal of Human Genetics|June 8, 2021
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsyMuhammad A Usmani, Zubair M Ahmed, Pamela Magini, et al.
Journal of Pediatric Gastroenterology and Nutrition|July 7, 2025
Paediatric acute liver failure: A prospective, nationwide, population-based surveillance study in GermanyDominic Lenz, Muhammad Abdulaziz, Bianca Peters, et al.
Pageof 19

Showing results (131-140 of 188) with videos related to

Sort By:
Pageof 19
Movement Disorders : Official Journal of the Movement Disorder Society|May 5, 2021
Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation StudyMichael Zech, Robert Jech, Sylvia Boesch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 27, 2020
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonusMatias Wagner, Jonathan Lévy, Sabine Jung-Klawitter, et al.
American Journal of Human Genetics|February 29, 2024
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophyMelanie Brugger, Antonella Lauri, Yan Zhen, et al.
European Journal of Human Genetics : EJHG|December 31, 2024
RICTOR variants are associated with neurodevelopmental disordersRaphael Carapito, Anne Molitor, Lisa Pavinato, et al.
Neurology. Genetics|April 15, 2024
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic <i>HK1</i> VariantsSaskia B Wortmann, Rene G Feichtinger, Lucia Abela, et al.
Annals of Neurology|February 2, 2026
Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia CohortAlice Saparov, Ivana Dzinovic, Theresa Brunet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 24, 2020
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1Dominic Lenz, Desirée E C Smith, Ellen Crushell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 2, 2022
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorderMarije Meuwissen, Aline Verstraeten, Emmanuelle Ranza, et al.
American Journal of Human Genetics|June 8, 2021
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsyMuhammad A Usmani, Zubair M Ahmed, Pamela Magini, et al.
Journal of Pediatric Gastroenterology and Nutrition|July 7, 2025
Paediatric acute liver failure: A prospective, nationwide, population-based surveillance study in GermanyDominic Lenz, Muhammad Abdulaziz, Bianca Peters, et al.
Pageof 19