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Dominique Bonneau

Showing results (121-130 of 253) with videos related to

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Annals of Neurology|April 21, 2007
Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A diseaseDominique Loiseau, Arnaud Chevrollier, Christophe Verny, et al.
Human Mutation|April 4, 2007
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patientsDavid Baux, Lise Larrieu, Catherine Blanchet, et al.
Scientific Data|August 6, 2021
ACO2 clinicobiological dataset with extensive phenotype ontology annotationKhadidja Guehlouz, Thomas Foulonneau, Patrizia Amati-Bonneau, et al.
Genes|July 27, 2022
Next-Generation Sequencing Identifies Novel <i>PMPCA</i> Variants in Patients with Late-Onset Dominant Optic AtrophyMajida Charif, Arnaud Chevrollier, Naïg Gueguen, et al.
Annals of Neurology|May 23, 2008
Hereditary optic neuropathies share a common mitochondrial coupling defectArnaud Chevrollier, Virginie Guillet, Dominique Loiseau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 6, 2018
eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing dataDavid Goudenège, Celine Bris, Virginie Hoffmann, et al.
Human Molecular Genetics|January 13, 2021
A plasma metabolomic signature of Leber hereditary optic neuropathy showing taurine and nicotinamide deficienciesCinzia Bocca, Victor Le Paih, Juan Manuel Chao de la Barca, et al.
European Journal of Human Genetics : EJHG|July 22, 2024
Correction: Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literatureVincent Milon, Marie-Claire Malinge, Maud Blanluet, et al.
Molecular Biology Reports|April 23, 2020
Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseasesRahma Felhi, Majida Charif, Lamia Sfaihi, et al.
European Journal of Human Genetics : EJHG|July 11, 2006
Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelismVirginie Laurier, Corinne Stoetzel, Jean Muller, et al.
Pageof 26

Showing results (121-130 of 253) with videos related to

Sort By:
Pageof 26
Annals of Neurology|April 21, 2007
Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A diseaseDominique Loiseau, Arnaud Chevrollier, Christophe Verny, et al.
Human Mutation|April 4, 2007
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patientsDavid Baux, Lise Larrieu, Catherine Blanchet, et al.
Scientific Data|August 6, 2021
ACO2 clinicobiological dataset with extensive phenotype ontology annotationKhadidja Guehlouz, Thomas Foulonneau, Patrizia Amati-Bonneau, et al.
Genes|July 27, 2022
Next-Generation Sequencing Identifies Novel <i>PMPCA</i> Variants in Patients with Late-Onset Dominant Optic AtrophyMajida Charif, Arnaud Chevrollier, Naïg Gueguen, et al.
Annals of Neurology|May 23, 2008
Hereditary optic neuropathies share a common mitochondrial coupling defectArnaud Chevrollier, Virginie Guillet, Dominique Loiseau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 6, 2018
eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing dataDavid Goudenège, Celine Bris, Virginie Hoffmann, et al.
Human Molecular Genetics|January 13, 2021
A plasma metabolomic signature of Leber hereditary optic neuropathy showing taurine and nicotinamide deficienciesCinzia Bocca, Victor Le Paih, Juan Manuel Chao de la Barca, et al.
European Journal of Human Genetics : EJHG|July 22, 2024
Correction: Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literatureVincent Milon, Marie-Claire Malinge, Maud Blanluet, et al.
Molecular Biology Reports|April 23, 2020
Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseasesRahma Felhi, Majida Charif, Lamia Sfaihi, et al.
European Journal of Human Genetics : EJHG|July 11, 2006
Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelismVirginie Laurier, Corinne Stoetzel, Jean Muller, et al.
Pageof 26