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Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.
Gupta N, Oppenheim IM, Kauvar EF, Tayebi N, Sidransky E. Gupta N, et al. Among authors: kauvar ef. Blood Cells Mol Dis. 2011 Jan 15;46(1):75-84. doi: 10.1016/j.bcmd.2010.08.012. Epub 2010 Sep 28. Blood Cells Mol Dis. 2011. PMID: 20880730 Free PMC article. Review.
TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype.
Keaton AA, Solomon BD, Kauvar EF, El-Jaick KB, Gropman AL, Zafer Y, Meck JM, Bale SJ, Grange DK, Haddad BR, Gowans GC, Clegg NJ, Delgado MR, Hahn JS, Pineda-Alvarez DE, Lacbawan F, Vélez JI, Roessler E, Muenke M. Keaton AA, et al. Among authors: kauvar ef. Mol Syndromol. 2010;1(5):211-222. doi: 10.1159/000328203. Epub 2011 May 18. Mol Syndromol. 2010. PMID: 22125506 Free PMC article.