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Ophthalmic Genetics|June 17, 2020
Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseasesMital Shah, Morag Shanks, Emily Packham, et al.BMC Ophthalmology|April 10, 2021
Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case reportSaoud Al-Khuzaei, Karl A Z Hudspith, Suzanne Broadgate, et al.JAMA Network Open|June 15, 2019
Clinical and Molecular Characterization of PROM1-Related Retinal DegenerationJasmina Cehajic-Kapetanovic, Johannes Birtel, Michelle E McClements, et al.JAMA Ophthalmology|December 20, 2019
Association of Messenger RNA Level With Phenotype in Patients With Choroideremia: Potential Implications for Gene Therapy DoseLewis E Fry, Maria I Patrício, Jonathan Williams, et al.Nucleic Acids Research|March 8, 2007
QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping dataStefano Colella, Christopher Yau, Jennifer M Taylor, et al.Genes|December 16, 2020
Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKLSusan M Downes, Tham Nguyen, Vicky Tai, et al.Genes|December 30, 2025
Expanding the Genetic Spectrum in <i>IMPG1</i> and <i>IMPG2</i> RetinopathySaoud Al-Khuzaei, Ahmed K Shalaby, Jing Yu, et al.Genes|September 27, 2025
Genotype-Phenotype Correlations in <i>PRPH2</i> Retinopathies: A Comprehensive Analysis of 36 Patients from the Oxford Eye Hospital, UKSaoud Al-Khuzaei, Mital Shah, Arun Reginald, et al.Ophthalmic Genetics|January 26, 2024
A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skippingWilliam J Waldock, Laura J Taylor, Sian Sperring, et al.Genes|August 26, 2022
Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher GenesHelena M Feenstra, Saoud Al-Khuzaei, Mital Shah, et al.Pageof 4