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Mathieu Quinodoz

Showing results (31-40 of 83) with videos related to

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Cornea|September 1, 2021
c.-61G>A in OVOL2 is a Pathogenic 5' Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1Lucas Janeschitz-Kriegl, Dhryata Kamdar, Mathieu Quinodoz, et al.
Human Molecular Genetics|January 9, 2022
Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorderJi Hoon Han, Gavin Ryan, Alyson Guy, et al.
Journal of Medical Genetics|June 3, 2025
Novel founder variant in the S-antigen visual arrestin gene <i>SAG</i> is the most prevalent cause of autosomal dominant retinitis pigmentosa in Singaporean ChineseMathieu Quinodoz, Yixin Lai, Rachael Wei Chao Tang, et al.
Plos Pathogens|December 24, 2019
Herpes simplex encephalitis in adult patients with MASP-2 deficiencyStéphanie Bibert, Jocelyne Piret, Mathieu Quinodoz, et al.
Investigative Ophthalmology & Visual Science|June 3, 2026
Steroidome Dysregulation and Complement C4 Copy Number Variation in Men With Central Serous ChorioretinopathyMarta Zola, Ji Hoon Han, Mathieu Quinodoz, et al.
Ophthalmic Genetics|March 16, 2026
Drusenoid macular dystrophies in Singaporean Chinese: first report of Doyne honeycomb retinal dystrophy and late-onset retinal degeneration from Southeast AsiaPeijun Zhang, Mathieu Quinodoz, Charles Ong, et al.
American Journal of Human Genetics|September 3, 2024
Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosaAna Belén Iglesias-Romero, Karolina Kaminska, Mathieu Quinodoz, et al.
Asia-Pacific Journal of Ophthalmology (Philadelphia, Pa.)|January 17, 2023
A Unique Presentation of Bilateral Chorioretinal AtrophyAndrea Grosso, Lawrence A Yannuzzi, Stephen H Tsang, et al.
PNAS Nexus|March 13, 2023
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesisVirginie G Peter, Karolina Kaminska, Cristina Santos, et al.
American Journal of Medical Genetics. Part A|July 6, 2026
Biallelic Variants in MIMS1 Produce a Form of Spondyloepimetaphyseal Dysplasia With Tracheal Stenosis and Ectodermal Dysplasia (SEMDTSED)Abdullah Sezer, Mathieu Quinodoz, Bing Li, et al.
Pageof 9

Showing results (31-40 of 83) with videos related to

Sort By:
Pageof 9
Cornea|September 1, 2021
c.-61G>A in OVOL2 is a Pathogenic 5' Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1Lucas Janeschitz-Kriegl, Dhryata Kamdar, Mathieu Quinodoz, et al.
Human Molecular Genetics|January 9, 2022
Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorderJi Hoon Han, Gavin Ryan, Alyson Guy, et al.
Journal of Medical Genetics|June 3, 2025
Novel founder variant in the S-antigen visual arrestin gene <i>SAG</i> is the most prevalent cause of autosomal dominant retinitis pigmentosa in Singaporean ChineseMathieu Quinodoz, Yixin Lai, Rachael Wei Chao Tang, et al.
Plos Pathogens|December 24, 2019
Herpes simplex encephalitis in adult patients with MASP-2 deficiencyStéphanie Bibert, Jocelyne Piret, Mathieu Quinodoz, et al.
Investigative Ophthalmology & Visual Science|June 3, 2026
Steroidome Dysregulation and Complement C4 Copy Number Variation in Men With Central Serous ChorioretinopathyMarta Zola, Ji Hoon Han, Mathieu Quinodoz, et al.
Ophthalmic Genetics|March 16, 2026
Drusenoid macular dystrophies in Singaporean Chinese: first report of Doyne honeycomb retinal dystrophy and late-onset retinal degeneration from Southeast AsiaPeijun Zhang, Mathieu Quinodoz, Charles Ong, et al.
American Journal of Human Genetics|September 3, 2024
Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosaAna Belén Iglesias-Romero, Karolina Kaminska, Mathieu Quinodoz, et al.
Asia-Pacific Journal of Ophthalmology (Philadelphia, Pa.)|January 17, 2023
A Unique Presentation of Bilateral Chorioretinal AtrophyAndrea Grosso, Lawrence A Yannuzzi, Stephen H Tsang, et al.
PNAS Nexus|March 13, 2023
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesisVirginie G Peter, Karolina Kaminska, Cristina Santos, et al.
American Journal of Medical Genetics. Part A|July 6, 2026
Biallelic Variants in MIMS1 Produce a Form of Spondyloepimetaphyseal Dysplasia With Tracheal Stenosis and Ectodermal Dysplasia (SEMDTSED)Abdullah Sezer, Mathieu Quinodoz, Bing Li, et al.
Pageof 9