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Felix Distelmaier

Showing results (121-130 of 151) with videos related to

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Annals of Neurology|December 26, 2021
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic PhenotypesMichael Zech, Robert Kopajtich, Katja Steinbrücker, 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.
Journal of Medical Genetics|October 17, 2021
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypesLucia Laugwitz, Annette Seibt, Diran Herebian, et al.
Cell Death & Disease|September 29, 2021
The long non-coding RNA HOTAIRM1 promotes tumor aggressiveness and radiotherapy resistance in glioblastomaUlvi Ahmadov, Daniel Picard, Jasmin Bartl, et al.
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.
Nature Communications|February 14, 2019
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafishAleksandra Siekierska, Hannah Stamberger, Tine Deconinck, et al.
Journal of Medical Genetics|November 6, 2021
Bi-allelic loss-of-function variants in <i>KIF21A</i> cause severe fetal akinesia with arthrogryposis multiplexRuth J Falb, Amelie J Müller, Wolfram Klein, et al.
Annals of Neurology|April 28, 2020
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 PatientsAndreas Traschütz, Tommaso Schirinzi, Lucia Laugwitz, 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.
American Journal of Human Genetics|January 20, 2015
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorderSaskia B Wortmann, Szymon Ziętkiewicz, Maria Kousi, et al.
Pageof 16

Showing results (121-130 of 151) with videos related to

Sort By:
Pageof 16
Annals of Neurology|December 26, 2021
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic PhenotypesMichael Zech, Robert Kopajtich, Katja Steinbrücker, 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.
Journal of Medical Genetics|October 17, 2021
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypesLucia Laugwitz, Annette Seibt, Diran Herebian, et al.
Cell Death & Disease|September 29, 2021
The long non-coding RNA HOTAIRM1 promotes tumor aggressiveness and radiotherapy resistance in glioblastomaUlvi Ahmadov, Daniel Picard, Jasmin Bartl, et al.
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.
Nature Communications|February 14, 2019
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafishAleksandra Siekierska, Hannah Stamberger, Tine Deconinck, et al.
Journal of Medical Genetics|November 6, 2021
Bi-allelic loss-of-function variants in <i>KIF21A</i> cause severe fetal akinesia with arthrogryposis multiplexRuth J Falb, Amelie J Müller, Wolfram Klein, et al.
Annals of Neurology|April 28, 2020
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 PatientsAndreas Traschütz, Tommaso Schirinzi, Lucia Laugwitz, 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.
American Journal of Human Genetics|January 20, 2015
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorderSaskia B Wortmann, Szymon Ziętkiewicz, Maria Kousi, et al.
Pageof 16