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Annals of Neurology
|
May 23, 2008
Hereditary optic neuropathies share a common mitochondrial coupling defect
Arnaud 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 data
David Goudenège, Celine Bris, Virginie Hoffmann, et al.
Frontiers in Genetics
|
January 31, 2020
Data-Mining Approach on Transcriptomics and Methylomics Placental Analysis Highlights Genes in Fetal Growth Restriction
Floris Chabrun, Noémie Huetz, Xavier Dieu, et al.
European Journal of Human Genetics : EJHG
|
May 28, 2024
Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature
Vincent Milon, Marie-Claire Malinge, Maud Blanluet, et al.
Human Molecular Genetics
|
January 13, 2021
A plasma metabolomic signature of Leber hereditary optic neuropathy showing taurine and nicotinamide deficiencies
Cinzia 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 literature
Vincent 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 diseases
Rahma Felhi, Majida Charif, Lamia Sfaihi, et al.
European Journal of Human Genetics : EJHG
|
April 28, 2006
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay
Mourad Naïmi, Sylvie Bannwarth, Vincent Procaccio, et al.
Human Mutation
|
March 26, 2009
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations
Marc Ferré, Dominique Bonneau, Dan Milea, et al.
The International Journal of Biochemistry & Cell Biology
|
May 31, 2015
Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency
Géraldine Leman, Naïg Gueguen, Valérie Desquiret-Dumas, et al.
Page
of 20
Search research articles
Search
Showing results (121-130 of 197) with videos related to
Sort By:
Page
of 20
Annals of Neurology
|
May 23, 2008
Hereditary optic neuropathies share a common mitochondrial coupling defect
Arnaud 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 data
David Goudenège, Celine Bris, Virginie Hoffmann, et al.
Frontiers in Genetics
|
January 31, 2020
Data-Mining Approach on Transcriptomics and Methylomics Placental Analysis Highlights Genes in Fetal Growth Restriction
Floris Chabrun, Noémie Huetz, Xavier Dieu, et al.
European Journal of Human Genetics : EJHG
|
May 28, 2024
Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature
Vincent Milon, Marie-Claire Malinge, Maud Blanluet, et al.
Human Molecular Genetics
|
January 13, 2021
A plasma metabolomic signature of Leber hereditary optic neuropathy showing taurine and nicotinamide deficiencies
Cinzia 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 literature
Vincent 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 diseases
Rahma Felhi, Majida Charif, Lamia Sfaihi, et al.
European Journal of Human Genetics : EJHG
|
April 28, 2006
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay
Mourad Naïmi, Sylvie Bannwarth, Vincent Procaccio, et al.
Human Mutation
|
March 26, 2009
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations
Marc Ferré, Dominique Bonneau, Dan Milea, et al.
The International Journal of Biochemistry & Cell Biology
|
May 31, 2015
Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency
Géraldine Leman, Naïg Gueguen, Valérie Desquiret-Dumas, et al.
Page
of 20