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Mutation Research|April 22, 2008
Stage-specificity of spontaneous mutation at a tandem repeat DNA locus in the mouse germlineMorag Shanks, Lydia Riou, Pierre Fouchet, et al.Vision (Basel, Switzerland)|April 24, 2026
OCT and Autofluorescence Phenotypic Features in Autosomal Dominant RHO-Associated Retinitis Pigmentosa VariantsChristina Karakosta, Saoud Al-Khuzaei, Penny Clouston, et al.Ophthalmic Genetics|May 22, 2018
Slowly progressive retinitis pigmentosa caused by two novel mutations in the MAK geneJoanna Monika Gray, Harry Otway Orlans, Morag Shanks, et al.American Journal of Ophthalmology Case Reports|November 17, 2022
Compound dominant-null heterozygosity in a family with RP1-related retinal dystrophyThomas M W Buckley, Jasmina Cehajic-Kapetanovic, Morag Shanks, et al.JAMA Ophthalmology|September 24, 2020
Association of a Novel Intronic Variant in RPGR With Hypomorphic Phenotype of X-Linked Retinitis PigmentosaJasmina Cehajic-Kapetanovic, Michelle E McClements, Jennifer Whitfield, et al.Ophthalmic Genetics|September 19, 2024
A novel frameshift variant in LAMP2 gene mimicking choroideremia carrier retinopathyAkshay Narayan, Laura J Taylor, Sian Sperring, et al.Genes|November 3, 2020
Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three PatientsSaoud Al-Khuzaei, Suzanne Broadgate, Stephanie Halford, et al.Ophthalmic Genetics|August 29, 2022
MERTK missense variants in three patients with retinitis pigmentosaFederica E Poli, Imran H Yusuf, Penny Clouston, et al.Ophthalmic Genetics|November 24, 2018
Electrophysiological verification of enhanced S-cone syndrome caused by a novel c.755T>C NR2E3 missense variantJasmina Cehajic-Kapetanovic, Charles L Cottriall, Jasleen K Jolly, et al.Genes|June 28, 2023
A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-InactivationJennifer Kirkby, Stephanie Halford, Morag Shanks, et al.Pageof 2