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Ann Saada

Showing results (101-110 of 144) with videos related to

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American Journal of Human Genetics|March 13, 2012
Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2Ronen Spiegel, Ophry Pines, Asaf Ta-Shma, et al.
Metabolic Brain Disease|January 15, 2019
Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and reviewYoav Zehavi, Hanna Mandel, Ayelet Eran, et al.
Journal of Human Genetics|March 24, 2019
A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4Tova Hershkovitz, Alina Kurolap, Claudia Gonzaga-Jauregui, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humansSamer Khateb, Björn Kowalewski, Nicola Bedoni, et al.
Iscience|February 6, 2024
Characterization of metabolic alterations in the lean metabolically unhealthy alpha defensin transgenic miceAbd Al-Roof Higazi, Emad Maraga, Saja Baraghithy, et al.
Molecular Genetics and Metabolism Reports|January 18, 2021
A recurring <i>NFS1</i> pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomesTova Hershkovitz, Alina Kurolap, Galit Tal, et al.
Orphanet Journal of Rare Diseases|April 15, 2025
Transcriptome analysis of atad3-null zebrafish embryos elucidates possible disease mechanismsShlomit Ezer, Nathan Ronin, Shira Yanovsky-Dagan, et al.
Aging and Disease|June 24, 2024
Ovariectomy and High Fat-Sugar-Salt Diet Induced Alzheimer's Disease/Vascular Dementia Features in MiceSahar Sweetat, Moti Ben Shabat, Paschalis Theotokis, et al.
Plos Genetics|August 7, 2015
Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain FunctionSitvanit Haziza, Roberta Magnani, Dima Lan, et al.
The Journal of Biological Chemistry|September 11, 2013
Protection of a ceramide synthase 2 null mouse from drug-induced liver injury: role of gap junction dysfunction and connexin 32 mislocalizationWoo-Jae Park, Joo-Won Park, Racheli Erez-Roman, et al.
Pageof 15

Showing results (101-110 of 144) with videos related to

Sort By:
Pageof 15
American Journal of Human Genetics|March 13, 2012
Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2Ronen Spiegel, Ophry Pines, Asaf Ta-Shma, et al.
Metabolic Brain Disease|January 15, 2019
Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and reviewYoav Zehavi, Hanna Mandel, Ayelet Eran, et al.
Journal of Human Genetics|March 24, 2019
A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4Tova Hershkovitz, Alina Kurolap, Claudia Gonzaga-Jauregui, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humansSamer Khateb, Björn Kowalewski, Nicola Bedoni, et al.
Iscience|February 6, 2024
Characterization of metabolic alterations in the lean metabolically unhealthy alpha defensin transgenic miceAbd Al-Roof Higazi, Emad Maraga, Saja Baraghithy, et al.
Molecular Genetics and Metabolism Reports|January 18, 2021
A recurring <i>NFS1</i> pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomesTova Hershkovitz, Alina Kurolap, Galit Tal, et al.
Orphanet Journal of Rare Diseases|April 15, 2025
Transcriptome analysis of atad3-null zebrafish embryos elucidates possible disease mechanismsShlomit Ezer, Nathan Ronin, Shira Yanovsky-Dagan, et al.
Aging and Disease|June 24, 2024
Ovariectomy and High Fat-Sugar-Salt Diet Induced Alzheimer's Disease/Vascular Dementia Features in MiceSahar Sweetat, Moti Ben Shabat, Paschalis Theotokis, et al.
Plos Genetics|August 7, 2015
Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain FunctionSitvanit Haziza, Roberta Magnani, Dima Lan, et al.
The Journal of Biological Chemistry|September 11, 2013
Protection of a ceramide synthase 2 null mouse from drug-induced liver injury: role of gap junction dysfunction and connexin 32 mislocalizationWoo-Jae Park, Joo-Won Park, Racheli Erez-Roman, et al.
Pageof 15