Publications
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Filters: Author is Karaviti, Lefkothea [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.
. Review of the phenotypic spectrum associated with haploinsufficiency of MYRF. Am J Med Genet A. 2019 ;179(7):1376-1382.
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