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

Felix Distelmaier

Showing results (111-120 of 151) with videos related to

Pageof 16
Sort By:
Nature Communications|June 13, 2017
Genetic diagnosis of Mendelian disorders via RNA sequencingLaura S Kremer, Daniel M Bader, Christian Mertes, et al.
Brain : a Journal of Neurology|April 30, 2025
Pleiotropic effects of MORC2 derive from its epigenetic signatureFatemeh Peymani, Tomohiro Ebihara, Dmitrii Smirnov, et al.
Molecular Genetics and Metabolism|February 20, 2026
From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial diseaseOliver Heath, Francisco Del Caño-Ochoa, Safa Baris, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2023
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhoodMargot R F Reijnders, Annette Seibt, Melanie Brugger, 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.
Cell Death & Disease|December 15, 2025
Combined ketone body and glutamine supplementation restores aerobic energy production in AGC1-deficient neuronal progenitorsSimona Nicole Barile, Maria Chiara Magnifico, Eleonora Poeta, et al.
Cell|January 8, 2019
UBQLN4 Represses Homologous Recombination and Is Overexpressed in Aggressive TumorsRon D Jachimowicz, Filippo Beleggia, Jörg Isensee, et al.
Journal of Inherited Metabolic Disease|November 7, 2015
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic conceptsChristian Staufner, Tobias B Haack, Marlies G Köpke, et al.
American Journal of Human Genetics|June 16, 2015
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in InfancyTobias B Haack, Christian Staufner, Marlies G Köpke, et al.
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.
Pageof 16

Showing results (111-120 of 151) with videos related to

Sort By:
Pageof 16
Nature Communications|June 13, 2017
Genetic diagnosis of Mendelian disorders via RNA sequencingLaura S Kremer, Daniel M Bader, Christian Mertes, et al.
Brain : a Journal of Neurology|April 30, 2025
Pleiotropic effects of MORC2 derive from its epigenetic signatureFatemeh Peymani, Tomohiro Ebihara, Dmitrii Smirnov, et al.
Molecular Genetics and Metabolism|February 20, 2026
From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial diseaseOliver Heath, Francisco Del Caño-Ochoa, Safa Baris, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2023
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhoodMargot R F Reijnders, Annette Seibt, Melanie Brugger, 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.
Cell Death & Disease|December 15, 2025
Combined ketone body and glutamine supplementation restores aerobic energy production in AGC1-deficient neuronal progenitorsSimona Nicole Barile, Maria Chiara Magnifico, Eleonora Poeta, et al.
Cell|January 8, 2019
UBQLN4 Represses Homologous Recombination and Is Overexpressed in Aggressive TumorsRon D Jachimowicz, Filippo Beleggia, Jörg Isensee, et al.
Journal of Inherited Metabolic Disease|November 7, 2015
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic conceptsChristian Staufner, Tobias B Haack, Marlies G Köpke, et al.
American Journal of Human Genetics|June 16, 2015
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in InfancyTobias B Haack, Christian Staufner, Marlies G Köpke, et al.
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.
Pageof 16