Publications
Filters: Author is Bedoukian, Emma [Clear All Filters]
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain. 2023 ;146(8):3273-3288.
. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet. 2019 ;104(3):530-541.
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