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Mathieu Quinodoz

Showing results (61-70 of 83) with videos related to

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European Journal of Human Genetics : EJHG|December 13, 2024
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing lossMarianthi Karali, Gema García-García, Karolina Kaminska, et al.
NPJ Genomic Medicine|October 20, 2022
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotypeNeringa Jurkute, Francesca Cancellieri, Lisa Pohl, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 29, 2024
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degenerationJi Hoon Han, Kim Rodenburg, Tamar Hayman, et al.
Nature Communications|June 30, 2019
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathyKonstantinos Nikopoulos, Katarina Cisarova, Mathieu Quinodoz, et al.
NPJ Genomic Medicine|June 30, 2021
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRDRiccardo Sangermano, Iris Deitch, Virginie G Peter, et al.
American Journal of Human Genetics|March 26, 2024
Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing readsMathieu Quinodoz, Karolina Kaminska, Francesca Cancellieri, et al.
JCI Insight|September 28, 2023
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosaBéatrice Bocquet, Caroline Borday, Nejla Erkilic, et al.
JAMA Ophthalmology|December 4, 2025
Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine TransportMukhtar Ullah, Atta Ur Rehman, Madhur Shetty, et al.
American Journal of Human Genetics|September 17, 2025
RetiGene, a comprehensive gene atlas for inherited retinal diseasesCarlo Rivolta, Elifnaz Celik, Dhryata Kamdar, et al.
Biorxiv : the Preprint Server for Biology|July 15, 2025
RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs)Mathieu Quinodoz, Elifnaz Celik, Dhryata Kamdar, et al.
Pageof 9

Showing results (61-70 of 83) with videos related to

Sort By:
Pageof 9
European Journal of Human Genetics : EJHG|December 13, 2024
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing lossMarianthi Karali, Gema García-García, Karolina Kaminska, et al.
NPJ Genomic Medicine|October 20, 2022
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotypeNeringa Jurkute, Francesca Cancellieri, Lisa Pohl, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 29, 2024
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degenerationJi Hoon Han, Kim Rodenburg, Tamar Hayman, et al.
Nature Communications|June 30, 2019
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathyKonstantinos Nikopoulos, Katarina Cisarova, Mathieu Quinodoz, et al.
NPJ Genomic Medicine|June 30, 2021
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRDRiccardo Sangermano, Iris Deitch, Virginie G Peter, et al.
American Journal of Human Genetics|March 26, 2024
Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing readsMathieu Quinodoz, Karolina Kaminska, Francesca Cancellieri, et al.
JCI Insight|September 28, 2023
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosaBéatrice Bocquet, Caroline Borday, Nejla Erkilic, et al.
JAMA Ophthalmology|December 4, 2025
Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine TransportMukhtar Ullah, Atta Ur Rehman, Madhur Shetty, et al.
American Journal of Human Genetics|September 17, 2025
RetiGene, a comprehensive gene atlas for inherited retinal diseasesCarlo Rivolta, Elifnaz Celik, Dhryata Kamdar, et al.
Biorxiv : the Preprint Server for Biology|July 15, 2025
RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs)Mathieu Quinodoz, Elifnaz Celik, Dhryata Kamdar, et al.
Pageof 9