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

Joshua Manor

Showing results (11-20 of 26) with videos related to

Pageof 3
Sort By:
American Journal of Medical Genetics. Part A|June 1, 2021
A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literatureJoshua Manor, Daniela Dinu, Mahshid S Azamian, et al.
Molecular Genetics and Metabolism Reports|January 13, 2025
In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunctionUri Sprecher, Jeevitha Dsouza, Monzer Marisat, et al.
Structure (London, England : 1993)|February 17, 2009
Gating mechanism of the influenza A M2 channel revealed by 1D and 2D IR spectroscopiesJoshua Manor, Prabuddha Mukherjee, Yu-Shan Lin, et al.
Molecular Genetics and Metabolism|May 31, 2022
NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correctionJoshua Manor, Daniel Calame, Charul Gijavanekar, et al.
Kidney360|April 4, 2022
Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract DiseasesNasim Bekheirnia, Kevin E Glinton, Linda Rossetti, et al.
American Journal of Medical Genetics. Part A|November 12, 2023
Heteroplasmic pathogenic m.12315G>A variant in MT-TL2 presenting with MELAS syndrome and depletion of nitric oxide donorsMatthew T Snyder, Joshua Manor, Charul Gijavanekar, et al.
Journal of Inherited Metabolic Disease|July 23, 2024
The natural history of dihydrolipoamide dehydrogenase deficiency in IsraelBen Pode-Shakked, Yuval E Landau, Nava Shaul Lotan, et al.
Biorxiv : the Preprint Server for Biology|October 10, 2024
Genetic analysis of the X-linked Adrenoleukodystrophy <i>ABCD1 gene</i> in <i>Drosophila</i> uncovers a role in Peroxisomal dynamicsJoshua Manor, Sharayu V Jangam, Hyung-Lok Chung, et al.
Communications Biology|May 7, 2026
Genetic analysis of the X-linked adrenoleukodystrophy gene ABCD1 in Drosophila uncovers a conserved phenotypeJoshua Manor, Sharayu V Jangam, Hyung-Lok Chung, et al.
Antioxidants (Basel, Switzerland)|January 28, 2026
Bioenergetic Signatures of DLD Deficiency: Dissecting PDHc- and α-KGDHc-Linked DefectsYarden Haham Zarbib, Shira Huri Ohev-Shalom, Shani Kassia Lyskov, et al.
Pageof 3

Showing results (11-20 of 26) with videos related to

Sort By:
Pageof 3
American Journal of Medical Genetics. Part A|June 1, 2021
A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literatureJoshua Manor, Daniela Dinu, Mahshid S Azamian, et al.
Molecular Genetics and Metabolism Reports|January 13, 2025
In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunctionUri Sprecher, Jeevitha Dsouza, Monzer Marisat, et al.
Structure (London, England : 1993)|February 17, 2009
Gating mechanism of the influenza A M2 channel revealed by 1D and 2D IR spectroscopiesJoshua Manor, Prabuddha Mukherjee, Yu-Shan Lin, et al.
Molecular Genetics and Metabolism|May 31, 2022
NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correctionJoshua Manor, Daniel Calame, Charul Gijavanekar, et al.
Kidney360|April 4, 2022
Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract DiseasesNasim Bekheirnia, Kevin E Glinton, Linda Rossetti, et al.
American Journal of Medical Genetics. Part A|November 12, 2023
Heteroplasmic pathogenic m.12315G>A variant in MT-TL2 presenting with MELAS syndrome and depletion of nitric oxide donorsMatthew T Snyder, Joshua Manor, Charul Gijavanekar, et al.
Journal of Inherited Metabolic Disease|July 23, 2024
The natural history of dihydrolipoamide dehydrogenase deficiency in IsraelBen Pode-Shakked, Yuval E Landau, Nava Shaul Lotan, et al.
Biorxiv : the Preprint Server for Biology|October 10, 2024
Genetic analysis of the X-linked Adrenoleukodystrophy <i>ABCD1 gene</i> in <i>Drosophila</i> uncovers a role in Peroxisomal dynamicsJoshua Manor, Sharayu V Jangam, Hyung-Lok Chung, et al.
Communications Biology|May 7, 2026
Genetic analysis of the X-linked adrenoleukodystrophy gene ABCD1 in Drosophila uncovers a conserved phenotypeJoshua Manor, Sharayu V Jangam, Hyung-Lok Chung, et al.
Antioxidants (Basel, Switzerland)|January 28, 2026
Bioenergetic Signatures of DLD Deficiency: Dissecting PDHc- and α-KGDHc-Linked DefectsYarden Haham Zarbib, Shira Huri Ohev-Shalom, Shani Kassia Lyskov, et al.
Pageof 3