Publications
Export 3 results:
Filters: Keyword is Young Adult and Author is Burrage, Lindsay C [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.
. . The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol. 2014 ;13(1):44-58.
.