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Scientific Reports|December 5, 2020
COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damageSami Tabbarah, Erika Tavares, Jason Charish, et al.
Nature Communications|August 25, 2023
A versatile, fast and unbiased method for estimation of gene-by-environment interaction effects on biobank-scale datasetsMatteo Di Scipio, Mohammad Khan, Shihong Mao, et al.
Clinical Genetics|August 2, 2022
Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosaAnna Dvaladze, Erika Tavares, Matteo Di Scipio, et al.
Investigative Ophthalmology & Visual Science|September 4, 2020
Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant ExonizationMatteo Di Scipio, Erika Tavares, Shriya Deshmukh, et al.
JCI Insight|October 22, 2024
Autosomal-dominant macular dystrophy linked to a chromosome 17 tandem duplicationRabiat Adele, Rowaida Hussein, Erika Tavares, et al.
Investigative Ophthalmology & Visual Science|December 23, 2021
Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10Monika K Grudzinska Pechhacker, Samuel G Jacobson, Arlene V Drack, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 6, 2020
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degenerationAnjali Vig, James A Poulter, Daniele Ottaviani, et al.
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