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Dominique Bonneau

Showing results (141-150 of 253) with videos related to

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Journal of Medical Genetics|July 26, 2023
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disordersKevin Riquin, Bertrand Isidor, Sandra Mercier, et al.
Brain : a Journal of Neurology|February 7, 2013
Sensorineural hearing loss in OPA1-linked disordersStéphanie Leruez, Dan Milea, Sabine Defoort-Dhellemmes, et al.
Neurobiology of Disease|August 28, 2015
OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiologyJuan Manuel Chao de la Barca, Delphine Prunier-Mirebeau, Patrizia Amati-Bonneau, et al.
Human Genetics|January 26, 2020
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosisPauline Arnaud, Caroline Racine, Nadine Hanna, et al.
Annals of Neurology|October 22, 2005
OPA1 R445H mutation in optic atrophy associated with sensorineural deafnessPatrizia Amati-Bonneau, Agnès Guichet, Aurélien Olichon, et al.
Investigative Ophthalmology & Visual Science|September 8, 2018
A Metabolomics Profiling of Glaucoma Points to Mitochondrial Dysfunction, Senescence, and Polyamines DeficiencyStéphanie Leruez, Alexandre Marill, Thomas Bresson, et al.
Investigative Ophthalmology & Visual Science|January 18, 2018
A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related DisordersCinzia Bocca, Judith Kouassi Nzoughet, Stéphanie Leruez, et al.
Brain : a Journal of Neurology|July 12, 2014
Early-onset Behr syndrome due to compound heterozygous mutations in OPA1Dominique Bonneau, Estelle Colin, Florine Oca, et al.
American Journal of Medical Genetics. Part A|December 4, 2019
Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorderMarine Tessarech, Magali Gorce, Françoise Boussion, et al.
Ophthalmic Genetics|November 29, 2024
The phenotypic spectrum of <i>CEP250</i> gene variantsCécile Courdier, Claire-Marie Dhaenens, Olivier Grunewald, et al.
Pageof 26

Showing results (141-150 of 253) with videos related to

Sort By:
Pageof 26
Journal of Medical Genetics|July 26, 2023
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disordersKevin Riquin, Bertrand Isidor, Sandra Mercier, et al.
Brain : a Journal of Neurology|February 7, 2013
Sensorineural hearing loss in OPA1-linked disordersStéphanie Leruez, Dan Milea, Sabine Defoort-Dhellemmes, et al.
Neurobiology of Disease|August 28, 2015
OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiologyJuan Manuel Chao de la Barca, Delphine Prunier-Mirebeau, Patrizia Amati-Bonneau, et al.
Human Genetics|January 26, 2020
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosisPauline Arnaud, Caroline Racine, Nadine Hanna, et al.
Annals of Neurology|October 22, 2005
OPA1 R445H mutation in optic atrophy associated with sensorineural deafnessPatrizia Amati-Bonneau, Agnès Guichet, Aurélien Olichon, et al.
Investigative Ophthalmology & Visual Science|September 8, 2018
A Metabolomics Profiling of Glaucoma Points to Mitochondrial Dysfunction, Senescence, and Polyamines DeficiencyStéphanie Leruez, Alexandre Marill, Thomas Bresson, et al.
Investigative Ophthalmology & Visual Science|January 18, 2018
A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related DisordersCinzia Bocca, Judith Kouassi Nzoughet, Stéphanie Leruez, et al.
Brain : a Journal of Neurology|July 12, 2014
Early-onset Behr syndrome due to compound heterozygous mutations in OPA1Dominique Bonneau, Estelle Colin, Florine Oca, et al.
American Journal of Medical Genetics. Part A|December 4, 2019
Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorderMarine Tessarech, Magali Gorce, Françoise Boussion, et al.
Ophthalmic Genetics|November 29, 2024
The phenotypic spectrum of <i>CEP250</i> gene variantsCécile Courdier, Claire-Marie Dhaenens, Olivier Grunewald, et al.
Pageof 26