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Ophthalmic Genetics
|
April 24, 2019
A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa
Virginie G Peter, Konstantinos Nikopoulos, Mathieu Quinodoz, et al.
Ophthalmic Research
|
November 10, 2025
Bisretinoids as a Source of Early Photoreceptor Pathology in Stargardt Disease
Nathan L Mata, Stephanie Weng, Michel Michaelides, et al.
Ophthalmic Research
|
November 15, 2021
Genetic Analysis of Consanguineous Pakistani Families with Congenital Stationary Night Blindness
Hafiz Muhammad Azhar Baig, Muhammad Ansar, Afia Iqbal, et al.
Documenta Ophthalmologica. Advances in Ophthalmology
|
February 15, 2026
Disease progression in IMPDH1 gene-associated rod-cone dystrophy caused by a rare p.Thr244Pro heterozygous variant
Mirella Barboni, Eszter Jávorszky, Mathieu Quinodoz, et al.
Investigative Ophthalmology & Visual Science
|
January 29, 2026
Downregulation of Cyclin Kinase Inhibitors p16INK4a and p27 in Conjunctival Melanomas
Emerentienne Sarrasin, Elea Lalys, Katya Nardou, et al.
Genes
|
September 28, 2021
Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous <i>KDM5B</i> Variants
Sébastien Lebon, Mathieu Quinodoz, Virginie G Peter, et al.
Ophthalmology and Therapy
|
June 23, 2020
Management of Full-Thickness Macular Hole in A Genetically Confirmed Case with Usher Syndrome
Evangelia S Panagiotou, Thomas Papathomas, Konstantinos Nikopoulos, et al.
Nature Biotechnology
|
May 31, 2022
Fast and highly sensitive full-length single-cell RNA sequencing using FLASH-seq
Vincent Hahaut, Dinko Pavlinic, Walter Carbone, et al.
Ophthalmic Research
|
April 24, 2023
A Novel Intronic Deletion in PDE6B Causes Autosomal Recessive Retinitis Pigmentosa by Interfering with RNA Splicing
Mukhtar Ullah, Atta Ur Rehman, Marc Folcher, et al.
Cells
|
February 25, 2025
Generation of a Double Reporter mES Cell Line to Simultaneously Trace the Generation of Retinal Progenitors and Photoreceptors
Oleksandr Zabiegalov, Adeline Berger, Dhryata Kamdar, et al.
Page
of 9
Search research articles
Search
Showing results (11-20 of 83) with videos related to
Sort By:
Page
of 9
Ophthalmic Genetics
|
April 24, 2019
A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa
Virginie G Peter, Konstantinos Nikopoulos, Mathieu Quinodoz, et al.
Ophthalmic Research
|
November 10, 2025
Bisretinoids as a Source of Early Photoreceptor Pathology in Stargardt Disease
Nathan L Mata, Stephanie Weng, Michel Michaelides, et al.
Ophthalmic Research
|
November 15, 2021
Genetic Analysis of Consanguineous Pakistani Families with Congenital Stationary Night Blindness
Hafiz Muhammad Azhar Baig, Muhammad Ansar, Afia Iqbal, et al.
Documenta Ophthalmologica. Advances in Ophthalmology
|
February 15, 2026
Disease progression in IMPDH1 gene-associated rod-cone dystrophy caused by a rare p.Thr244Pro heterozygous variant
Mirella Barboni, Eszter Jávorszky, Mathieu Quinodoz, et al.
Investigative Ophthalmology & Visual Science
|
January 29, 2026
Downregulation of Cyclin Kinase Inhibitors p16INK4a and p27 in Conjunctival Melanomas
Emerentienne Sarrasin, Elea Lalys, Katya Nardou, et al.
Genes
|
September 28, 2021
Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous <i>KDM5B</i> Variants
Sébastien Lebon, Mathieu Quinodoz, Virginie G Peter, et al.
Ophthalmology and Therapy
|
June 23, 2020
Management of Full-Thickness Macular Hole in A Genetically Confirmed Case with Usher Syndrome
Evangelia S Panagiotou, Thomas Papathomas, Konstantinos Nikopoulos, et al.
Nature Biotechnology
|
May 31, 2022
Fast and highly sensitive full-length single-cell RNA sequencing using FLASH-seq
Vincent Hahaut, Dinko Pavlinic, Walter Carbone, et al.
Ophthalmic Research
|
April 24, 2023
A Novel Intronic Deletion in PDE6B Causes Autosomal Recessive Retinitis Pigmentosa by Interfering with RNA Splicing
Mukhtar Ullah, Atta Ur Rehman, Marc Folcher, et al.
Cells
|
February 25, 2025
Generation of a Double Reporter mES Cell Line to Simultaneously Trace the Generation of Retinal Progenitors and Photoreceptors
Oleksandr Zabiegalov, Adeline Berger, Dhryata Kamdar, et al.
Page
of 9