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BMJ Case Reports|October 12, 2024
Incidental finding of a BRCA2 variant following whole genome sequencing to molecularly diagnose bilateral congenital cataractsCara Heppell, Samantha Malka, Mariya MoosajeeClinical Genetics|December 9, 2024
A Novel De Novo Missense Variant in Netrin-1 (NTN1) Associated With Chorioretinal Coloboma, Sensorineural Hearing Loss and PolydactylyMaria Toms, Cara Heppell, Nicholas Owen, et al.Ocular Immunology and Inflammation|April 16, 2025
Comprehensive Update on Multiple Sclerosis-Associated Uveitis and New Epidemiological Insights from the United KingdomCara Heppell, Anuradhaa Subramanian, Nicola J Adderley, et al.JAMA Dermatology|February 4, 2026
Genotype-Phenotype Correlations in Recessive Dystrophic Epidermolysis Bullosa: A Systematic ReviewCara Heppell, Ping-Chen Hou, Aimée Longmore, et al.Pageof 1