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Isabelle Meunier

Showing results (101-110 of 148) with videos related to

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Human Mutation|February 4, 2021
CHM mutation spectrum and disease: An update at the time of human therapeutic trialsChristina Zeitz, Marco Nassisi, Caroline Laurent-Coriat, et al.
Ophthalmic Genetics|November 29, 2024
The phenotypic spectrum of <i>CEP250</i> gene variantsCécile Courdier, Claire-Marie Dhaenens, Olivier Grunewald, et al.
International Journal of Molecular Sciences|December 24, 2021
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes <i>MYO7A</i> and <i>USH2A</i>Luke Mansard, David Baux, Christel Vaché, et al.
Euro Surveillance : Bulletin Europeen Sur Les Maladies Transmissibles = European Communicable Disease Bulletin|February 6, 2026
Interim 2025/26 influenza vaccine effectiveness estimates with immuno-epidemiological considerations for A(H3N2) subclade K protection, Canada, January 2026Lea Separovic, Suzana Sabaiduc, Yuping Zhan, et al.
Human Mutation|May 7, 2019
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 geneJulia Felden, Britta Baumann, Manir Ali, et al.
International Journal of Molecular Sciences|July 2, 2021
Novel <i>TTLL5</i> Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal DystrophyVasily Smirnov, Olivier Grunewald, Jean Muller, et al.
Human Molecular Genetics|October 4, 2017
A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotypeGaël Manes, Willy Joly, Thomas Guignard, et al.
Human Molecular Genetics|April 3, 2017
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2Stylianos Michalakis, Lior Shaltiel, Vithiyanjali Sothilingam, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 22, 2025
Identification of IDH3G, encoding the gamma subunit of mitochondrial isocitrate dehydrogenase, as a novel candidate gene for X-linked retinitis pigmentosaLorenzo Bianco, Julien Navarro, Christelle Michiels, et al.
Human Molecular Genetics|October 29, 2013
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2Stylianos Michalakis, Lior Shaltiel, Vithiyanjali Sothilingam, et al.
Pageof 15

Showing results (101-110 of 148) with videos related to

Sort By:
Pageof 15
Human Mutation|February 4, 2021
CHM mutation spectrum and disease: An update at the time of human therapeutic trialsChristina Zeitz, Marco Nassisi, Caroline Laurent-Coriat, et al.
Ophthalmic Genetics|November 29, 2024
The phenotypic spectrum of <i>CEP250</i> gene variantsCécile Courdier, Claire-Marie Dhaenens, Olivier Grunewald, et al.
International Journal of Molecular Sciences|December 24, 2021
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes <i>MYO7A</i> and <i>USH2A</i>Luke Mansard, David Baux, Christel Vaché, et al.
Euro Surveillance : Bulletin Europeen Sur Les Maladies Transmissibles = European Communicable Disease Bulletin|February 6, 2026
Interim 2025/26 influenza vaccine effectiveness estimates with immuno-epidemiological considerations for A(H3N2) subclade K protection, Canada, January 2026Lea Separovic, Suzana Sabaiduc, Yuping Zhan, et al.
Human Mutation|May 7, 2019
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 geneJulia Felden, Britta Baumann, Manir Ali, et al.
International Journal of Molecular Sciences|July 2, 2021
Novel <i>TTLL5</i> Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal DystrophyVasily Smirnov, Olivier Grunewald, Jean Muller, et al.
Human Molecular Genetics|October 4, 2017
A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotypeGaël Manes, Willy Joly, Thomas Guignard, et al.
Human Molecular Genetics|April 3, 2017
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2Stylianos Michalakis, Lior Shaltiel, Vithiyanjali Sothilingam, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 22, 2025
Identification of IDH3G, encoding the gamma subunit of mitochondrial isocitrate dehydrogenase, as a novel candidate gene for X-linked retinitis pigmentosaLorenzo Bianco, Julien Navarro, Christelle Michiels, et al.
Human Molecular Genetics|October 29, 2013
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2Stylianos Michalakis, Lior Shaltiel, Vithiyanjali Sothilingam, et al.
Pageof 15