PMC Links for Nucleotide (Select 20128623) - PMC

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Items: 2

Select item 13802371.

Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation

Seema R. Lalani, Arsalan M. Safiullah, Susan D. Fernbach, Karine G. Harutyunyan, Christina Thaller, Leif E. Peterson, John D. McPherson, Richard A. Gibbs, Lisa D. White, Margaret Hefner, Sandra L. H. Davenport, John M. Graham, Carlos A. Bacino, Nancy L. Glass, Jeffrey A. Towbin, William J. Craigen, Steven R. Neish, Angela E. Lin, John W. Belmont

Am J Hum Genet. 2006 Feb; 78(2): 303–314. Published online 2005 Dec 29. doi: 10.1086/500273

PMCID:: PMC1380237

Article PDF–2.7M

Select item 5506532.

SNP genotyping to screen for a common deletion in CHARGE Syndrome

Seema R Lalani, Arsalan M Safiullah, Susan D Fernbach, Michael Phillips, Carlos A Bacino, Laura M Molinari, Nancy L Glass, Jeffrey A Towbin, William J Craigen, John W Belmont

BMC Med Genet. 2005; 6: 8. Published online 2005 Feb 14. doi: 10.1186/1471-2350-6-8