Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Comp...

od Kabahuma, Rosemary Ida, Schubert, Wolf-Dieter, Labuschagne, Christiaan, Yan, Denise, Blanton, Susan Halloran, Pepper, Michael Sean, Liu, Xue Zhong
izdano v Genes (Basel) (2021)

Genetic heterogeneity in families with hereditary multiple exostoses

od Cook, April, Raskind, Wendy, Blanton, Susan Halloran, Pauli, Richard M., Gregg, Ronald G., Francomano, Claire A., Puffenberger, Eric, Conrad, Ernest U., Schmale, Gregory, Schellenberg, Gerard, Wijsman, Ellen, Hecht, Jacqueline T., Wells, Dan, Wagner, Michael J.
Izdano 1993