Publications
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Isolation and characterization of the platelet-derived growth factor beta receptor promoter. Dev Dyn. 1997 ;208(2):211-9.
. Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. Eur J Hum Genet. 2020 ;28(9):1243-1264.
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