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Xavier Zanlonghi

Showing results (31-40 of 58) with videos related to

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The British Journal of Ophthalmology|November 26, 2018
Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the <i>TYR</i> geneSolene Monfermé, Eulalie Lasseaux, Catherine Duncombe-Poulet, et al.
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.
Investigative Ophthalmology & Visual Science|January 14, 2022
The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and DifferencesCharlotte C Kruijt, Libe Gradstein, Arthur A Bergen, et al.
JIMD Reports|August 18, 2018
DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New PatientsBobby G Ng, Hunter R Underhill, Lars Palm, 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.
NPJ Genomic Medicine|November 8, 2024
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degenerationRiccardo Sangermano, Priya Gupta, Cherrell Price, et al.
European Journal of Human Genetics : EJHG|March 5, 2025
Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypesSophie Scheidecker, Séverine Bär, Ariane Kröll-Hermi, 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.
Pageof 6

Showing results (31-40 of 58) with videos related to

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Pageof 6
The British Journal of Ophthalmology|November 26, 2018
Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the <i>TYR</i> geneSolene Monfermé, Eulalie Lasseaux, Catherine Duncombe-Poulet, et al.
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.
Investigative Ophthalmology & Visual Science|January 14, 2022
The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and DifferencesCharlotte C Kruijt, Libe Gradstein, Arthur A Bergen, et al.
JIMD Reports|August 18, 2018
DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New PatientsBobby G Ng, Hunter R Underhill, Lars Palm, 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.
NPJ Genomic Medicine|November 8, 2024
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degenerationRiccardo Sangermano, Priya Gupta, Cherrell Price, et al.
European Journal of Human Genetics : EJHG|March 5, 2025
Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypesSophie Scheidecker, Séverine Bär, Ariane Kröll-Hermi, 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.
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