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Isabelle Meunier

Showing results (91-100 of 148) with videos related to

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Molecular Therapy : the Journal of the American Society of Gene Therapy|October 10, 2024
Dual CRALBP isoforms unveiled: iPSC-derived retinal modeling and AAV2/5-RLBP1 gene transfer raise considerations for effective therapyKrishna Damodar, Gregor Dubois, Laurent Guillou, et al.
Ophthalmology|July 31, 2016
Martinique Crinkled Retinal Pigment Epitheliopathy: Clinical Stages and Pathophysiologic InsightsAlbert Jean-Charles, Harold Merle, Isabelle Audo, et al.
American Journal of Medical Genetics. Part A|June 11, 2015
Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variantMajida Charif, Salah Mohamed Cherif Titah, Agathe Roubertie, et al.
Human Mutation|August 7, 2018
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsiaNicole Weisschuh, Katarina Stingl, Isabelle Audo, et al.
The British Journal of Ophthalmology|April 18, 2015
Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopiaThomas Chassine, Béatrice Bocquet, Vincent Daien, et al.
Euro Surveillance : Bulletin Europeen Sur Les Maladies Transmissibles = European Communicable Disease Bulletin|May 16, 2026
Interim 2025/26 LP.8.1 vaccine effectiveness estimates against COVID-19 from the Canadian Sentinel Practitioner Surveillance Network (SPSN): insights into possible impact of influenza and other respiratory virus co-circulationDanuta M Skowronski, Yuping Zhan, Samantha E Kaweski, et al.
Ophthalmology Science|October 17, 2022
Retinitis Punctata Albescens and <i>RLBP1</i>-Allied Phenotypes: Phenotype-Genotype Correlation and Natural History in the Aim of Gene TherapyBéatrice Bocquet, Hicham El Alami Trebki, Anne Françoise Roux, et al.
International Journal of Molecular Sciences|April 23, 2022
Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with <i>MFSD8</i> VariantsAnaïs F Poncet, Olivier Grunewald, Veronika Vaclavik, et al.
International Journal of Molecular Sciences|December 10, 2021
<i>CRB1</i>-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor <i>CRB1</i> IsoformsKévin Mairot, Vasily Smirnov, Béatrice Bocquet, et al.
Journal of the Neurological Sciences|February 3, 2015
Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunctionAgathe Roubertie, Nicolas Leboucq, Marie Christine Picot, et al.
Pageof 15

Showing results (91-100 of 148) with videos related to

Sort By:
Pageof 15
Molecular Therapy : the Journal of the American Society of Gene Therapy|October 10, 2024
Dual CRALBP isoforms unveiled: iPSC-derived retinal modeling and AAV2/5-RLBP1 gene transfer raise considerations for effective therapyKrishna Damodar, Gregor Dubois, Laurent Guillou, et al.
Ophthalmology|July 31, 2016
Martinique Crinkled Retinal Pigment Epitheliopathy: Clinical Stages and Pathophysiologic InsightsAlbert Jean-Charles, Harold Merle, Isabelle Audo, et al.
American Journal of Medical Genetics. Part A|June 11, 2015
Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variantMajida Charif, Salah Mohamed Cherif Titah, Agathe Roubertie, et al.
Human Mutation|August 7, 2018
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsiaNicole Weisschuh, Katarina Stingl, Isabelle Audo, et al.
The British Journal of Ophthalmology|April 18, 2015
Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopiaThomas Chassine, Béatrice Bocquet, Vincent Daien, et al.
Euro Surveillance : Bulletin Europeen Sur Les Maladies Transmissibles = European Communicable Disease Bulletin|May 16, 2026
Interim 2025/26 LP.8.1 vaccine effectiveness estimates against COVID-19 from the Canadian Sentinel Practitioner Surveillance Network (SPSN): insights into possible impact of influenza and other respiratory virus co-circulationDanuta M Skowronski, Yuping Zhan, Samantha E Kaweski, et al.
Ophthalmology Science|October 17, 2022
Retinitis Punctata Albescens and <i>RLBP1</i>-Allied Phenotypes: Phenotype-Genotype Correlation and Natural History in the Aim of Gene TherapyBéatrice Bocquet, Hicham El Alami Trebki, Anne Françoise Roux, et al.
International Journal of Molecular Sciences|April 23, 2022
Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with <i>MFSD8</i> VariantsAnaïs F Poncet, Olivier Grunewald, Veronika Vaclavik, et al.
International Journal of Molecular Sciences|December 10, 2021
<i>CRB1</i>-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor <i>CRB1</i> IsoformsKévin Mairot, Vasily Smirnov, Béatrice Bocquet, et al.
Journal of the Neurological Sciences|February 3, 2015
Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunctionAgathe Roubertie, Nicolas Leboucq, Marie Christine Picot, et al.
Pageof 15