Novel Pathogenic Sequence Variants in <i>NR2E3</i> and Clinical Findings in Three Patients

by Saoud Al-khuzaei, Suzanne Broadgate, Stephanie Halford, Jasleen K. Jolly, Morag Shanks, Penny Clouston, Susan M. Downes
Published 2020-10-01

Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL

by Susan M. Downes, Tham Nguyen, Vicky Tai, Suzanne Broadgate, Mital Shah, Saoud Al-Khuzaei, Robert E. MacLaren, Morag Shanks, Penny Clouston, Stephanie Halford
Published 2020-12-01