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American Journal of Human Genetics|January 7, 2014
Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophyGuilherme L Yamamoto, Wagner A R Baratela, Tatiana F Almeida, et al.Alzheimer'S & Dementia (Amsterdam, Netherlands)|November 18, 2025
Inner and outer retinal abnormalities detected in Alzheimer's disease subjects diagnosed by amyloid PET not revealed when classified based on clinical criteriaLeonardo E Ariello, Daniele de Paula Faria, Thais de S Andrade, et al.Pageof 2