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

Shamima Rahman

Showing results (161-170 of 182) with videos related to

Pageof 19
Sort By:
Journal of Inherited Metabolic Disease|April 7, 2012
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgiaCaroline Michot, Laurence Hubert, Norma B Romero, et al.
Annals of Clinical and Translational Neurology|October 18, 2021
Expanding the phenotypic spectrum of BCS1L-related mitochondrial diseaseOmar Hikmat, Pirjo Isohanni, Nandaki Keshavan, et al.
Communications Biology|January 12, 2023
OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseasesGabriel Sturm, Kalpita R Karan, Anna S Monzel, et al.
Communications Medicine|August 1, 2025
Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder in patients and cell line modelsFangfang Zhang, Tatjana Dorn, Barbara Gnutti, et al.
European Journal of Human Genetics : EJHG|May 30, 2013
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 geneJohanna Uusimaa, Julie Evans, Conrad Smith, et al.
Human Genetics|February 14, 2018
Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for managementLisbeth Tranebjærg, Nicola Strenzke, Sture Lindholm, et al.
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.
Nature Genetics|February 28, 2002
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancerIan P M Tomlinson, N Afrina Alam, Andrew J Rowan, 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.
BMJ (Clinical Research Ed.)|November 4, 2021
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort studyKatherine R Schon, Rita Horvath, Wei Wei, et al.
Pageof 19

Showing results (161-170 of 182) with videos related to

Sort By:
Pageof 19
Journal of Inherited Metabolic Disease|April 7, 2012
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgiaCaroline Michot, Laurence Hubert, Norma B Romero, et al.
Annals of Clinical and Translational Neurology|October 18, 2021
Expanding the phenotypic spectrum of BCS1L-related mitochondrial diseaseOmar Hikmat, Pirjo Isohanni, Nandaki Keshavan, et al.
Communications Biology|January 12, 2023
OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseasesGabriel Sturm, Kalpita R Karan, Anna S Monzel, et al.
Communications Medicine|August 1, 2025
Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder in patients and cell line modelsFangfang Zhang, Tatjana Dorn, Barbara Gnutti, et al.
European Journal of Human Genetics : EJHG|May 30, 2013
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 geneJohanna Uusimaa, Julie Evans, Conrad Smith, et al.
Human Genetics|February 14, 2018
Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for managementLisbeth Tranebjærg, Nicola Strenzke, Sture Lindholm, et al.
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.
Nature Genetics|February 28, 2002
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancerIan P M Tomlinson, N Afrina Alam, Andrew J Rowan, 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.
BMJ (Clinical Research Ed.)|November 4, 2021
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort studyKatherine R Schon, Rita Horvath, Wei Wei, et al.
Pageof 19