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Isabelle Meunier

Showing results (61-70 of 148) with videos related to

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Ophthalmology|July 11, 2016
WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical SeverityJoanna Grenier, Isabelle Meunier, Vincent Daien, et al.
Clinical Genetics|December 21, 2022
ROSAH syndrome mimicking chronic uveitisChristine Fardeau, Munirah Alafaleq, Claire-Marie Dhaenens, et al.
Scientific Reports|September 22, 2021
Characterization of SSBP1-related optic atrophy and foveopathyIsabelle Meunier, Béatrice Bocquet, Sabine Defoort-Dhellemmes, et al.
American Journal of Human Genetics|February 10, 2009
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfectaBozena Polok, Pascal Escher, Aude Ambresin, et al.
Frontiers in Genetics|July 28, 2020
A 4.6 Mb Inversion Leading to <i>PCDH15</i>-<i>LINC00844</i> and <i>BICC1</i>-<i>PCDH15</i> Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1Christel Vaché, Jacques Puechberty, Valérie Faugère, et al.
Journal of Cellular and Molecular Medicine|March 27, 2020
Isopropyl-phloroglucinol-DHA protects outer retinal cells against lethal dose of all-trans-retinalAurélie Cubizolle, David Cia, Espérance Moine, et al.
Annals of Clinical and Translational Neurology|August 13, 2019
Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!Agathe Roubertie, Majida Charif, Pierre Meyer, et al.
Human Mutation|June 20, 2014
Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspotsDavid Baux, Catherine Blanchet, Christian Hamel, et al.
HGG Advances|September 1, 2023
<i>USH2A</i> variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoidsCarla Sanjurjo-Soriano, Carla Jimenez-Medina, Nejla Erkilic, et al.
Journal of Personalized Medicine|February 25, 2023
Atypical Foveal Hypoplasia in Best DiseaseEmmanuelle Moret, Raphaël Lejoyeux, Sophie Bonnin, et al.
Pageof 15

Showing results (61-70 of 148) with videos related to

Sort By:
Pageof 15
Ophthalmology|July 11, 2016
WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical SeverityJoanna Grenier, Isabelle Meunier, Vincent Daien, et al.
Clinical Genetics|December 21, 2022
ROSAH syndrome mimicking chronic uveitisChristine Fardeau, Munirah Alafaleq, Claire-Marie Dhaenens, et al.
Scientific Reports|September 22, 2021
Characterization of SSBP1-related optic atrophy and foveopathyIsabelle Meunier, Béatrice Bocquet, Sabine Defoort-Dhellemmes, et al.
American Journal of Human Genetics|February 10, 2009
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfectaBozena Polok, Pascal Escher, Aude Ambresin, et al.
Frontiers in Genetics|July 28, 2020
A 4.6 Mb Inversion Leading to <i>PCDH15</i>-<i>LINC00844</i> and <i>BICC1</i>-<i>PCDH15</i> Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1Christel Vaché, Jacques Puechberty, Valérie Faugère, et al.
Journal of Cellular and Molecular Medicine|March 27, 2020
Isopropyl-phloroglucinol-DHA protects outer retinal cells against lethal dose of all-trans-retinalAurélie Cubizolle, David Cia, Espérance Moine, et al.
Annals of Clinical and Translational Neurology|August 13, 2019
Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!Agathe Roubertie, Majida Charif, Pierre Meyer, et al.
Human Mutation|June 20, 2014
Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspotsDavid Baux, Catherine Blanchet, Christian Hamel, et al.
HGG Advances|September 1, 2023
<i>USH2A</i> variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoidsCarla Sanjurjo-Soriano, Carla Jimenez-Medina, Nejla Erkilic, et al.
Journal of Personalized Medicine|February 25, 2023
Atypical Foveal Hypoplasia in Best DiseaseEmmanuelle Moret, Raphaël Lejoyeux, Sophie Bonnin, et al.
Pageof 15