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Ann Saada

Showing results (121-130 of 144) with videos related to

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European Journal of Human Genetics : EJHG|December 30, 2010
Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathyPaulien Smits, Ann Saada, Saskia B Wortmann, et al.
Mitochondrion|October 12, 2011
Toward genotype phenotype correlations in GFM1 mutationsLouise Galmiche, Valérie Serre, Marine Beinat, et al.
Scientific Reports|March 18, 2025
Protein kinase C epsilon activation improves early survival in an acute porcine model of controlled hemorrhageMaya Simchoni, Linn Wagnert-Avraham, Estela Derazne, et al.
Molecular Genetics & Genomic Medicine|September 3, 2019
De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathyMaja Tarailo-Graovac, Farah R Zahir, Irena Zivkovic, et al.
Blood|April 20, 2013
The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancyPolina Stepensky, Ann Saada, Marianne Cowan, et al.
Journal of Medical Genetics|February 9, 2013
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporterSimon Edvardson, Vito Porcelli, Chaim Jalas, et al.
Iscience|July 17, 2024
Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translationTaru Hilander, Ryan Awadhpersad, Geoffray Monteuuis, et al.
Brain Communications|September 13, 2021
Levodopa-responsive dystonia caused by biallelic <i>PRKN</i> exon inversion invisible to exome sequencingHagar Mor-Shaked, Emuna Paz-Ebstein, Adily Basal, et al.
Cardiovascular Toxicology|May 1, 2008
Cardiac-targeted transgenic mutant mitochondrial enzymes: mtDNA defects, antiretroviral toxicity and cardiomyopathyJames J Kohler, Seyed H Hosseini, Elgin Green, et al.
Journal of Medical Genetics|November 13, 2015
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutationRonen Spiegel, Ann Saada, Padraig J Flannery, et al.
Pageof 15

Showing results (121-130 of 144) with videos related to

Sort By:
Pageof 15
European Journal of Human Genetics : EJHG|December 30, 2010
Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathyPaulien Smits, Ann Saada, Saskia B Wortmann, et al.
Mitochondrion|October 12, 2011
Toward genotype phenotype correlations in GFM1 mutationsLouise Galmiche, Valérie Serre, Marine Beinat, et al.
Scientific Reports|March 18, 2025
Protein kinase C epsilon activation improves early survival in an acute porcine model of controlled hemorrhageMaya Simchoni, Linn Wagnert-Avraham, Estela Derazne, et al.
Molecular Genetics & Genomic Medicine|September 3, 2019
De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathyMaja Tarailo-Graovac, Farah R Zahir, Irena Zivkovic, et al.
Blood|April 20, 2013
The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancyPolina Stepensky, Ann Saada, Marianne Cowan, et al.
Journal of Medical Genetics|February 9, 2013
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporterSimon Edvardson, Vito Porcelli, Chaim Jalas, et al.
Iscience|July 17, 2024
Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translationTaru Hilander, Ryan Awadhpersad, Geoffray Monteuuis, et al.
Brain Communications|September 13, 2021
Levodopa-responsive dystonia caused by biallelic <i>PRKN</i> exon inversion invisible to exome sequencingHagar Mor-Shaked, Emuna Paz-Ebstein, Adily Basal, et al.
Cardiovascular Toxicology|May 1, 2008
Cardiac-targeted transgenic mutant mitochondrial enzymes: mtDNA defects, antiretroviral toxicity and cardiomyopathyJames J Kohler, Seyed H Hosseini, Elgin Green, et al.
Journal of Medical Genetics|November 13, 2015
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutationRonen Spiegel, Ann Saada, Padraig J Flannery, et al.
Pageof 15