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Isabelle Audo

Showing results (181-190 of 234) with videos related to

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Ophthalmic Research|July 14, 2024
The Progression of Stargardt Disease as Determined by Spectral-Domain Optical Coherence Tomography over a 24-Month Period (ProgStar Report No. 18)Rupert Wolfgang Strauss, Lang Lang, Alexander Ho, 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.
International Journal of Molecular Sciences|August 7, 2021
Mutated <i>CCDC51</i> Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone DystrophyChristina Zeitz, Cécile Méjécase, Christelle Michiels, et al.
Human Mutation|March 10, 2022
Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A studyRobert B Hufnagel, Wendi Liang, Jacque L Duncan, et al.
JCI Insight|April 10, 2020
Multiexon deletion alleles of ATF6 linked to achromatopsiaEun-Jin Lee, Wei-Chieh Jerry Chiang, Heike Kroeger, et al.
Human Molecular Genetics|September 13, 2013
The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large familyIsabelle Audo, Kinga Bujakowska, Elise Orhan, et al.
Pageof 24

Showing results (181-190 of 234) with videos related to

Sort By:
Pageof 24
Ophthalmic Research|July 14, 2024
The Progression of Stargardt Disease as Determined by Spectral-Domain Optical Coherence Tomography over a 24-Month Period (ProgStar Report No. 18)Rupert Wolfgang Strauss, Lang Lang, Alexander Ho, 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.
International Journal of Molecular Sciences|August 7, 2021
Mutated <i>CCDC51</i> Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone DystrophyChristina Zeitz, Cécile Méjécase, Christelle Michiels, et al.
Human Mutation|March 10, 2022
Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A studyRobert B Hufnagel, Wendi Liang, Jacque L Duncan, et al.
JCI Insight|April 10, 2020
Multiexon deletion alleles of ATF6 linked to achromatopsiaEun-Jin Lee, Wei-Chieh Jerry Chiang, Heike Kroeger, et al.
Human Molecular Genetics|September 13, 2013
The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large familyIsabelle Audo, Kinga Bujakowska, Elise Orhan, et al.
Pageof 24