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American Journal of Human Genetics|June 18, 2002
Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skippingTimothy W Hefferon, Fiona C Broackes-Carter, Ann Harris, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 19, 2008
The incidence of duplicate genetic testingDouglas L Riegert-Johnson, Daniela Macaya, Timothy W Hefferon, et al.Proceedings of the National Academy of Sciences of the United States of America|March 3, 2004
A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicingTimothy W Hefferon, Joshua D Groman, Catherine E Yurk, et al.Genetic Testing|February 26, 2008
Medical errors related to inappropriate genetic testing in liver transplant patientsDouglas L Riegert-Johnson, Daniela Macaya, Timothy W Hefferon, et al.Journal of the American Academy of Dermatology|March 15, 2011
Acquired pseudoxanthoma elasticum presenting after liver transplantationLionel Bercovitch, Ludovic Martin, Nicolas Chassaing, et al.Journal of Medical Genetics|November 25, 2010
CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTRMolly B Sheridan, Timothy W Hefferon, Nulang Wang, et al.American Journal of Human Genetics|December 20, 2003
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benignJoshua D Groman, Timothy W Hefferon, Teresa Casals, et al.Pageof 1