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Ann Saada

Showing results (51-60 of 144) with videos related to

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Cells|March 25, 2022
Cytochrome c Oxidase Activity as a Metabolic Regulator in Pancreatic Beta-CellsGenya Aharon-Hananel, Leonor Romero-Afrima, Ann Saada, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2017
Revisiting mitochondrial diagnostic criteria in the new era of genomicsPeter Witters, Ann Saada, Tomas Honzik, et al.
Genes|August 27, 2021
Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Presentation Due to a Homozygous Mutation in a Bedouin TribeOrna Staretz-Chacham, Shirly Amar, Shlomo Almashanu, et al.
Molecular Genetics and Metabolism|March 6, 2010
Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3Esther Leshinsky-Silver, Dorit Lev, Gustavo Malinger, et al.
American Journal of Medical Genetics. Part A|March 19, 2016
Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and functionRuth Sheffer, Liza Douiev, Simon Edvardson, et al.
American Journal of Medical Genetics. Part A|December 12, 2017
A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansionIdan Cohen, Orna Staretz-Chacham, Ohad Wormser, et al.
Plos One|October 26, 2016
Upregulation of Mitochondrial Content in Cytochrome c Oxidase Deficient FibroblastsAviram Kogot-Levin, Ann Saada, Gil Leibowitz, et al.
Developmental Cell|February 10, 2015
Weaning triggers a maturation step of pancreatic β cellsMiri Stolovich-Rain, Jonatan Enk, Jonas Vikesa, et al.
Orphanet Journal of Rare Diseases|September 22, 2012
Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiencyAndreas Ohlenbusch, Simon Edvardson, Johannes Skorpen, et al.
Annals of Neurology|October 27, 2004
Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutationChaya Miller, Ann Saada, Nava Shaul, et al.
Pageof 15

Showing results (51-60 of 144) with videos related to

Sort By:
Pageof 15
Cells|March 25, 2022
Cytochrome c Oxidase Activity as a Metabolic Regulator in Pancreatic Beta-CellsGenya Aharon-Hananel, Leonor Romero-Afrima, Ann Saada, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2017
Revisiting mitochondrial diagnostic criteria in the new era of genomicsPeter Witters, Ann Saada, Tomas Honzik, et al.
Genes|August 27, 2021
Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Presentation Due to a Homozygous Mutation in a Bedouin TribeOrna Staretz-Chacham, Shirly Amar, Shlomo Almashanu, et al.
Molecular Genetics and Metabolism|March 6, 2010
Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3Esther Leshinsky-Silver, Dorit Lev, Gustavo Malinger, et al.
American Journal of Medical Genetics. Part A|March 19, 2016
Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and functionRuth Sheffer, Liza Douiev, Simon Edvardson, et al.
American Journal of Medical Genetics. Part A|December 12, 2017
A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansionIdan Cohen, Orna Staretz-Chacham, Ohad Wormser, et al.
Plos One|October 26, 2016
Upregulation of Mitochondrial Content in Cytochrome c Oxidase Deficient FibroblastsAviram Kogot-Levin, Ann Saada, Gil Leibowitz, et al.
Developmental Cell|February 10, 2015
Weaning triggers a maturation step of pancreatic β cellsMiri Stolovich-Rain, Jonatan Enk, Jonas Vikesa, et al.
Orphanet Journal of Rare Diseases|September 22, 2012
Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiencyAndreas Ohlenbusch, Simon Edvardson, Johannes Skorpen, et al.
Annals of Neurology|October 27, 2004
Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutationChaya Miller, Ann Saada, Nava Shaul, et al.
Pageof 15