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Ophthalmic Genetics|December 7, 2006
A splice-site mutation in CCM1/KRIT1 is associated with retinal and cerebral cavernous hemangiomaAnna S Kitzmann, Jose S Pulido, Matthew J Ferber, et al.Analytical Chemistry|February 14, 2004
DNA mutation detection in a polymer microfluidic network using temperature gradient gel electrophoresisJesse S Buch, Christopher Kimball, Frederick Rosenberger, et al.Lab on a Chip|March 26, 2005
Denaturing gradient-based two-dimensional gene mutation scanning in a polymer microfluidic networkJesse S Buch, Frederick Rosenberger, W Edward Highsmith, et al.Clinical Biochemistry|April 27, 2007
Comparison of three methods for genotyping the UGT1A1 (TA)n repeat polymorphismLinnea M Baudhuin, W Edward Highsmith, Jennifer Skierka, et al.Molecular Genetics and Metabolism Reports|June 27, 2017
Compound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical diseaseBenjamin Cocanougher, Umut Aypar, Amber McDonald, et al.DNA and Cell Biology|March 24, 2010
Biological variation among african trypanosomes: I. Clonal expression of virulence is not linked to the variant surface glycoprotein or the variant surface glycoprotein gene telomeric expression siteJill A Inverso, Timothy S Uphoff, Scott C Johnson, et al.The Journal of Molecular Diagnostics : JMD|April 29, 2005
Nine novel germline gene variants in the RET proto-oncogene identified in twelve unrelated casesSyed A Ahmed, Karen Snow-Bailey, W Edward Highsmith, et al.Data in Brief|July 29, 2015
Biochemical and computational analyses of two phenotypically related GALT mutations (S222N and S135L) that lead to atypical galactosemiaBenjamin Cocanougher, Umut Aypar, Amber McDonald, et al.Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|May 4, 2013
Systemic transthyretin amyloidosis in a patient with bent spine syndromeKourosh Rezania, Peter Pytel, Laurel J Smit, et al.Journal of Clinical Microbiology|December 7, 2018
Multicenter Clinical Evaluation of the Automated Aries Bordetella AssayRyan F Relich, Amy Leber, Stephen Young, et al.Pageof 8