Publications
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Filters: Author is Campeau, Philippe M and Keyword is Young Adult [Clear All Filters]
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 2019 ;104(3):422-438.
. 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.
. The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol. 2014 ;13(1):44-58.
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