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

B Wortmann

Showing results (161-170 of 205) with videos related to

Pageof 21
Sort By:
The Journal of Clinical Endocrinology and Metabolism|September 8, 2022
Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic InsightsElena J Tucker, Megan J Baker, Daniella H Hock, 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|January 7, 2020
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiencyWillemijn J van Rijt, Emmalie A Jager, Derk P Allersma, et al.
The EMBO Journal|October 20, 2025
TXNIP mediates LAT1/SLC7A5 endocytosis to limit amino acid uptake in cells entering quiescenceJennifer Kahlhofer, Nikolas Marchet, Kristian Zubak, et al.
Brain : a Journal of Neurology|October 23, 2019
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegiaFrédéric M Vaz, John H McDermott, Mariëlle Alders, 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.
Nature Communications|March 27, 2021
Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndromeGizem Inak, Agnieszka Rybak-Wolf, Pawel Lisowski, et al.
Annals of Neurology|May 17, 2021
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and HypopituitarismAnne Schänzer, Melanie T Achleitner, Dietrich Trümbach, et al.
Brain : a Journal of Neurology|July 17, 2023
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmissionJames Fasham, Antje K Huebner, Lutz Liebmann, et al.
Molecular Genetics and Metabolism|July 27, 2025
Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort studySebastian Roesch, Anna O'Sullivan, Stefan Tschani, et al.
Pageof 21

Showing results (161-170 of 205) with videos related to

Sort By:
Pageof 21
The Journal of Clinical Endocrinology and Metabolism|September 8, 2022
Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic InsightsElena J Tucker, Megan J Baker, Daniella H Hock, 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|January 7, 2020
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiencyWillemijn J van Rijt, Emmalie A Jager, Derk P Allersma, et al.
The EMBO Journal|October 20, 2025
TXNIP mediates LAT1/SLC7A5 endocytosis to limit amino acid uptake in cells entering quiescenceJennifer Kahlhofer, Nikolas Marchet, Kristian Zubak, et al.
Brain : a Journal of Neurology|October 23, 2019
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegiaFrédéric M Vaz, John H McDermott, Mariëlle Alders, 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.
Nature Communications|March 27, 2021
Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndromeGizem Inak, Agnieszka Rybak-Wolf, Pawel Lisowski, et al.
Annals of Neurology|May 17, 2021
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and HypopituitarismAnne Schänzer, Melanie T Achleitner, Dietrich Trümbach, et al.
Brain : a Journal of Neurology|July 17, 2023
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmissionJames Fasham, Antje K Huebner, Lutz Liebmann, et al.
Molecular Genetics and Metabolism|July 27, 2025
Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort studySebastian Roesch, Anna O'Sullivan, Stefan Tschani, et al.
Pageof 21