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Mathieu Quinodoz

Showing results (51-60 of 83) with videos related to

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Plos Genetics|August 20, 2019
Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and miceAbigail R Moye, Nicola Bedoni, Jessica G Cunningham, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 3, 2019
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD geneVirginie G Peter, Mathieu Quinodoz, Jorge Pinto-Basto, et al.
Nature Communications|May 10, 2024
Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligaseStéphanie Bibert, Mathieu Quinodoz, Sylvain Perriot, et al.
Genes|January 11, 2018
Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate GenesGaluh D N Astuti, L Ingeborgh van den Born, M Imran Khan, et al.
American Journal of Human Genetics|January 25, 2024
Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunctionMiriam Bauwens, Elifnaz Celik, Dinah Zur, et al.
Frontiers in Immunology|June 17, 2021
Transcriptomic Signature Differences Between SARS-CoV-2 and Influenza Virus Infected PatientsStéphanie Bibert, Nicolas Guex, Joao Lourenco, et al.
Clinical Genetics|February 15, 2021
Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 geneIsis Atallah, Mathieu Quinodoz, Belinda Campos-Xavier, et al.
Human Molecular Genetics|September 9, 2022
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophiesMalena Daich Varela, James Bellingham, Fabiana Motta, et al.
Human Molecular Genetics|March 4, 2025
A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell modelsJulio C Corral-Serrano, Veronika Vaclavik, Stijn Van de Sompele, et al.
American Journal of Human Genetics|February 26, 2026
Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, causes a late-onset retinal dystrophyAbigail R Moye, Caitlyn L McCafferty, Siying Lin, et al.
Pageof 9

Showing results (51-60 of 83) with videos related to

Sort By:
Pageof 9
Plos Genetics|August 20, 2019
Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and miceAbigail R Moye, Nicola Bedoni, Jessica G Cunningham, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 3, 2019
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD geneVirginie G Peter, Mathieu Quinodoz, Jorge Pinto-Basto, et al.
Nature Communications|May 10, 2024
Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligaseStéphanie Bibert, Mathieu Quinodoz, Sylvain Perriot, et al.
Genes|January 11, 2018
Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate GenesGaluh D N Astuti, L Ingeborgh van den Born, M Imran Khan, et al.
American Journal of Human Genetics|January 25, 2024
Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunctionMiriam Bauwens, Elifnaz Celik, Dinah Zur, et al.
Frontiers in Immunology|June 17, 2021
Transcriptomic Signature Differences Between SARS-CoV-2 and Influenza Virus Infected PatientsStéphanie Bibert, Nicolas Guex, Joao Lourenco, et al.
Clinical Genetics|February 15, 2021
Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 geneIsis Atallah, Mathieu Quinodoz, Belinda Campos-Xavier, et al.
Human Molecular Genetics|September 9, 2022
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophiesMalena Daich Varela, James Bellingham, Fabiana Motta, et al.
Human Molecular Genetics|March 4, 2025
A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell modelsJulio C Corral-Serrano, Veronika Vaclavik, Stijn Van de Sompele, et al.
American Journal of Human Genetics|February 26, 2026
Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, causes a late-onset retinal dystrophyAbigail R Moye, Caitlyn L McCafferty, Siying Lin, et al.
Pageof 9