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Mathieu Quinodoz

Showing results (1-10 of 83) with videos related to

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Genome Biology|June 29, 2014
Characteristic bimodal profiles of RNA polymerase II at thousands of active mammalian promotersMathieu Quinodoz, Cédric Gobet, Felix Naef, et al.
Clinical Dysmorphology|October 22, 2019
Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosaAtta Ur Rehman, Virginie G Peter, Mathieu Quinodoz, et al.
Genetics|April 8, 2016
Likelihood-Free Inference in High-Dimensional ModelsAthanasios Kousathanas, Christoph Leuenberger, Jonas Helfer, et al.
Ophthalmic Research|November 28, 2023
The p.C759F Variant in USH2A Is a Pathogenic Mutation: Systematic Literature Review and Meta-Analysis of 667 GenotypesJi Hoon Han, Francesca Cancellieri, Irene Perea-Romero, et al.
Case Reports in Ophthalmology|March 19, 2024
GNB1-Related Rod-Cone Dystrophy: A Case ReportGiovanni Marco Conti, Francesca Cancellieri, Mathieu Quinodoz, et al.
Scientific Reports|November 11, 2020
Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophiesArash Salmaninejad, Nicola Bedoni, Zeinab Ravesh, et al.
American Journal of Human Genetics|October 7, 2017
DOMINO: Using Machine Learning to Predict Genes Associated with Dominant DisordersMathieu Quinodoz, Beryl Royer-Bertrand, Katarina Cisarova, et al.
Genes|December 28, 2019
Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in <i>ABCA4</i>Atta Ur Rehman, Virginie G Peter, Mathieu Quinodoz, et al.
Advances in Experimental Medicine and Biology|February 10, 2025
ABCA4 c.5461-6T>C Causes Stargardt Disease Through Exon SkippingMathieu Quinodoz, Ana Belén Iglesias-Romero, Francesca Cancellieri, et al.
Case Reports in Ophthalmology|July 8, 2026
Phenotypic Divergence in C19ORF44-Associated Retinal Degeneration despite an Identical Genotype: A Case ReportLucas Yan Bin Ng, Mathieu Quinodoz, Tien-En Tan, et al.
Pageof 9

Showing results (1-10 of 83) with videos related to

Sort By:
Pageof 9
Genome Biology|June 29, 2014
Characteristic bimodal profiles of RNA polymerase II at thousands of active mammalian promotersMathieu Quinodoz, Cédric Gobet, Felix Naef, et al.
Clinical Dysmorphology|October 22, 2019
Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosaAtta Ur Rehman, Virginie G Peter, Mathieu Quinodoz, et al.
Genetics|April 8, 2016
Likelihood-Free Inference in High-Dimensional ModelsAthanasios Kousathanas, Christoph Leuenberger, Jonas Helfer, et al.
Ophthalmic Research|November 28, 2023
The p.C759F Variant in USH2A Is a Pathogenic Mutation: Systematic Literature Review and Meta-Analysis of 667 GenotypesJi Hoon Han, Francesca Cancellieri, Irene Perea-Romero, et al.
Case Reports in Ophthalmology|March 19, 2024
GNB1-Related Rod-Cone Dystrophy: A Case ReportGiovanni Marco Conti, Francesca Cancellieri, Mathieu Quinodoz, et al.
Scientific Reports|November 11, 2020
Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophiesArash Salmaninejad, Nicola Bedoni, Zeinab Ravesh, et al.
American Journal of Human Genetics|October 7, 2017
DOMINO: Using Machine Learning to Predict Genes Associated with Dominant DisordersMathieu Quinodoz, Beryl Royer-Bertrand, Katarina Cisarova, et al.
Genes|December 28, 2019
Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in <i>ABCA4</i>Atta Ur Rehman, Virginie G Peter, Mathieu Quinodoz, et al.
Advances in Experimental Medicine and Biology|February 10, 2025
ABCA4 c.5461-6T>C Causes Stargardt Disease Through Exon SkippingMathieu Quinodoz, Ana Belén Iglesias-Romero, Francesca Cancellieri, et al.
Case Reports in Ophthalmology|July 8, 2026
Phenotypic Divergence in C19ORF44-Associated Retinal Degeneration despite an Identical Genotype: A Case ReportLucas Yan Bin Ng, Mathieu Quinodoz, Tien-En Tan, et al.
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