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The Journal of Investigative Dermatology
|
August 30, 2013
SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism
Fanny Morice-Picard, Eulalie Lasseaux, Stéphane François, et al.
Biochimica Et Biophysica Acta
|
June 2, 2006
Mitochondrial dynamics and disease, OPA1
Aurélien Olichon, Emmanuelle Guillou, Cécile Delettre, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
November 6, 2018
Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion
Rahma Felhi, Lamia Sfaihi, Majida Charif, et al.
Journal of Proteome Research
|
February 1, 2019
Metabolomic Profiling of Aqueous Humor in Glaucoma Points to Taurine and Spermine Deficiency: Findings from the Eye-D Study
Adrien Buisset, Philippe Gohier, Stéphanie Leruez, et al.
European Journal of Human Genetics : EJHG
|
December 1, 2011
Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?
Nathalie Delphin, Sylvain Hanein, Lucas Fares Taie, et al.
Human Molecular Genetics
|
March 24, 2020
Metabolomics hallmarks OPA1 variants correlating with their in vitro phenotype and predicting clinical severity
Juan Manuel Chao de la Barca, Mario Fogazza, Michela Rugolo, et al.
Journal of Proteome Research
|
April 14, 2021
Metabolomic Sexual Dimorphism of the Mouse Brain is Predominantly Abolished by Gonadectomy with a Higher Impact on Females
Floris Chabrun, Xavier Dieu, Pascale May-Panloup, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease
|
February 18, 2018
The accumulation of assembly intermediates of the mitochondrial complex I matrix arm is reduced by limiting glucose uptake in a neuronal-like model of MELAS syndrome
Guillaume Geffroy, Rayane Benyahia, Samuel Frey, et al.
Metabolites
|
February 5, 2020
A Data Mining Metabolomics Exploration of Glaucoma
Judith Kouassi Nzoughet, Khadidja Guehlouz, Stéphanie Leruez, et al.
Journal of Proteome Research
|
June 15, 2019
Lipidomics Reveals Triacylglycerol Accumulation Due to Impaired Fatty Acid Flux in Opa1-Disrupted Fibroblasts
Cinzia Bocca, Mariame Selma Kane, Charlotte Veyrat-Durebex, et al.
Page
of 26
Search research articles
Search
Showing results (111-120 of 253) with videos related to
Sort By:
Page
of 26
The Journal of Investigative Dermatology
|
August 30, 2013
SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism
Fanny Morice-Picard, Eulalie Lasseaux, Stéphane François, et al.
Biochimica Et Biophysica Acta
|
June 2, 2006
Mitochondrial dynamics and disease, OPA1
Aurélien Olichon, Emmanuelle Guillou, Cécile Delettre, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
November 6, 2018
Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion
Rahma Felhi, Lamia Sfaihi, Majida Charif, et al.
Journal of Proteome Research
|
February 1, 2019
Metabolomic Profiling of Aqueous Humor in Glaucoma Points to Taurine and Spermine Deficiency: Findings from the Eye-D Study
Adrien Buisset, Philippe Gohier, Stéphanie Leruez, et al.
European Journal of Human Genetics : EJHG
|
December 1, 2011
Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?
Nathalie Delphin, Sylvain Hanein, Lucas Fares Taie, et al.
Human Molecular Genetics
|
March 24, 2020
Metabolomics hallmarks OPA1 variants correlating with their in vitro phenotype and predicting clinical severity
Juan Manuel Chao de la Barca, Mario Fogazza, Michela Rugolo, et al.
Journal of Proteome Research
|
April 14, 2021
Metabolomic Sexual Dimorphism of the Mouse Brain is Predominantly Abolished by Gonadectomy with a Higher Impact on Females
Floris Chabrun, Xavier Dieu, Pascale May-Panloup, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease
|
February 18, 2018
The accumulation of assembly intermediates of the mitochondrial complex I matrix arm is reduced by limiting glucose uptake in a neuronal-like model of MELAS syndrome
Guillaume Geffroy, Rayane Benyahia, Samuel Frey, et al.
Metabolites
|
February 5, 2020
A Data Mining Metabolomics Exploration of Glaucoma
Judith Kouassi Nzoughet, Khadidja Guehlouz, Stéphanie Leruez, et al.
Journal of Proteome Research
|
June 15, 2019
Lipidomics Reveals Triacylglycerol Accumulation Due to Impaired Fatty Acid Flux in Opa1-Disrupted Fibroblasts
Cinzia Bocca, Mariame Selma Kane, Charlotte Veyrat-Durebex, et al.
Page
of 26