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Showing results (911-920 of 1,250) with videos related to

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NPJ Genomic Medicine|May 19, 2026
Whole-genome sequencing uncovers diverse genetic causes and phenotypic signatures in infantile nystagmus and albinismMahmoud R Fassad, Pradeep C Vasudevan, Julian Barwell, et al.
Investigative Ophthalmology & Visual Science|March 19, 2010
Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosaMai M Abd El-Aziz, Ciara A O'Driscoll, Rebecca S Kaye, et al.
Investigative Ophthalmology & Visual Science|June 6, 2025
Clinical and Biochemical Characterization of Specific GUCY2D Alleles Associated With a Rare Form of Night BlindnessRola Ba-Abbad, Igor V Peshenko, Malena Daich Varela, et al.
Ophthalmology. Retina|September 1, 2024
PDE6A-Associated Retinitis Pigmentosa, Clinical Characteristics, Genetics, and Natural HistoryShaima Awadh Hashem, Michalis Georgiou, Genevieve Wright, et al.
Journal of Neurointerventional Surgery|June 20, 2015
Infundibular dilations of the posterior communicating arteries: pathogenesis, anatomical variants, aneurysm formation, and subarachnoid hemorrhageChing-Jen Chen, Shayan Moosa, Dale Ding, et al.
Molecular Therapy. Nucleic Acids|March 13, 2023
Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant <i>ABCA4</i> c.5461-10T>CMelita Kaltak, Petra de Bruijn, Davide Piccolo, et al.
Plos One|March 30, 2017
Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt diseaseStanley Lambertus, Nathalie M Bax, Ana Fakin, et al.
Circulation|February 24, 2006
Achieving rapid door-to-balloon times: how top hospitals improve complex clinical systemsElizabeth H Bradley, Leslie A Curry, Tashonna R Webster, et al.
Progress in Retinal and Eye Research|January 26, 2024
Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromesMichalis Georgiou, Anthony G Robson, Kaoru Fujinami, et al.
Progress in Retinal and Eye Research|August 30, 2020
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapiesSamantha R De Silva, Gavin Arno, Anthony G Robson, et al.
Pageof 125

Showing results (911-920 of 1,250) with videos related to

Sort By:
Pageof 125
NPJ Genomic Medicine|May 19, 2026
Whole-genome sequencing uncovers diverse genetic causes and phenotypic signatures in infantile nystagmus and albinismMahmoud R Fassad, Pradeep C Vasudevan, Julian Barwell, et al.
Investigative Ophthalmology & Visual Science|March 19, 2010
Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosaMai M Abd El-Aziz, Ciara A O'Driscoll, Rebecca S Kaye, et al.
Investigative Ophthalmology & Visual Science|June 6, 2025
Clinical and Biochemical Characterization of Specific GUCY2D Alleles Associated With a Rare Form of Night BlindnessRola Ba-Abbad, Igor V Peshenko, Malena Daich Varela, et al.
Ophthalmology. Retina|September 1, 2024
PDE6A-Associated Retinitis Pigmentosa, Clinical Characteristics, Genetics, and Natural HistoryShaima Awadh Hashem, Michalis Georgiou, Genevieve Wright, et al.
Journal of Neurointerventional Surgery|June 20, 2015
Infundibular dilations of the posterior communicating arteries: pathogenesis, anatomical variants, aneurysm formation, and subarachnoid hemorrhageChing-Jen Chen, Shayan Moosa, Dale Ding, et al.
Molecular Therapy. Nucleic Acids|March 13, 2023
Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant <i>ABCA4</i> c.5461-10T>CMelita Kaltak, Petra de Bruijn, Davide Piccolo, et al.
Plos One|March 30, 2017
Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt diseaseStanley Lambertus, Nathalie M Bax, Ana Fakin, et al.
Circulation|February 24, 2006
Achieving rapid door-to-balloon times: how top hospitals improve complex clinical systemsElizabeth H Bradley, Leslie A Curry, Tashonna R Webster, et al.
Progress in Retinal and Eye Research|January 26, 2024
Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromesMichalis Georgiou, Anthony G Robson, Kaoru Fujinami, et al.
Progress in Retinal and Eye Research|August 30, 2020
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapiesSamantha R De Silva, Gavin Arno, Anthony G Robson, et al.
Pageof 125