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Mathieu Quinodoz

Showing results (41-50 of 83) with videos related to

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The EMBO Journal|December 2, 2024
De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorderMathieu Quinodoz, Sonja Rutz, Virginie Peter, et al.
Investigative Ophthalmology & Visual Science|February 6, 2025
Topography of Slowed Dark Adaptation in Pseudoxanthoma Elasticum: PROPXE Study Report 1Kristina Pfau, Georg Ansari, Stephan Michels, et al.
Scientific Reports|April 28, 2025
Identification of new families and variants in autosomal dominant macular dystrophy associated with THRBLidia Fernández-Caballero, Fiona Blanco-Kelly, Saoud Tahsin Swafiri, et al.
Journal of Medical Genetics|January 5, 2021
Biallelic variants in <i>ZNF526</i> cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyrationMaria Lisa Dentici, Viola Alesi, Mathieu Quinodoz, et al.
Scientific Reports|September 30, 2021
Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophiesAtta Ur Rehman, Neda Sepahi, Nicola Bedoni, et al.
Nature Communications|January 23, 2021
AutoMap is a high performance homozygosity mapping tool using next-generation sequencing dataMathieu Quinodoz, Virginie G Peter, Nicola Bedoni, et al.
Ophthalmic Genetics|August 26, 2025
A survey of genotypes associated with Leber congenital amaurosis and early-onset severe retinal degeneration identified in a Singaporean patient cohortSaadia Z Farooqui, Mathieu Quinodoz, Tien-En Tan, et al.
Human Molecular Genetics|June 14, 2020
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organsNicola Bedoni, Mathieu Quinodoz, Michele Pinelli, et al.
NPJ Genomic Medicine|April 3, 2025
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohortMukhtar Ullah, Atta Ur Rehman, Mathieu Quinodoz, et al.
Elife|July 14, 2021
CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levelsAndré Brás Gonçalves, Sarah Kirstine Hasselbalch, Beinta Biskopstø Joensen, et al.
Pageof 9

Showing results (41-50 of 83) with videos related to

Sort By:
Pageof 9
The EMBO Journal|December 2, 2024
De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorderMathieu Quinodoz, Sonja Rutz, Virginie Peter, et al.
Investigative Ophthalmology & Visual Science|February 6, 2025
Topography of Slowed Dark Adaptation in Pseudoxanthoma Elasticum: PROPXE Study Report 1Kristina Pfau, Georg Ansari, Stephan Michels, et al.
Scientific Reports|April 28, 2025
Identification of new families and variants in autosomal dominant macular dystrophy associated with THRBLidia Fernández-Caballero, Fiona Blanco-Kelly, Saoud Tahsin Swafiri, et al.
Journal of Medical Genetics|January 5, 2021
Biallelic variants in <i>ZNF526</i> cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyrationMaria Lisa Dentici, Viola Alesi, Mathieu Quinodoz, et al.
Scientific Reports|September 30, 2021
Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophiesAtta Ur Rehman, Neda Sepahi, Nicola Bedoni, et al.
Nature Communications|January 23, 2021
AutoMap is a high performance homozygosity mapping tool using next-generation sequencing dataMathieu Quinodoz, Virginie G Peter, Nicola Bedoni, et al.
Ophthalmic Genetics|August 26, 2025
A survey of genotypes associated with Leber congenital amaurosis and early-onset severe retinal degeneration identified in a Singaporean patient cohortSaadia Z Farooqui, Mathieu Quinodoz, Tien-En Tan, et al.
Human Molecular Genetics|June 14, 2020
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organsNicola Bedoni, Mathieu Quinodoz, Michele Pinelli, et al.
NPJ Genomic Medicine|April 3, 2025
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohortMukhtar Ullah, Atta Ur Rehman, Mathieu Quinodoz, et al.
Elife|July 14, 2021
CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levelsAndré Brás Gonçalves, Sarah Kirstine Hasselbalch, Beinta Biskopstø Joensen, et al.
Pageof 9