Autosomal Dominant Stapes Ankylosis with Broad Thumbs and Toes, Hyperopia, and Skeletal Anomalies Is Caused by Heterozygous Nonsense and Frameshift Mutations in NOG, the Gene Encod...

Yazar: Brown, David J., Kim, Theresa B., Petty, Elizabeth M., Downs, Catherine A., Martin, Donna M., Strouse, Peter J., Moroi, Sayoko E., Milunsky, Jeff M., Lesperance, Marci M.
Baskı/Yayın Bilgisi 2002

A Locus for Posterior Polymorphous Corneal Dystrophy (PPCD3) Maps to Chromosome 10

Yazar: Shimizu, Satoko, Krafchak, Charles, Fuse, Nobuo, Epstein, Michael P., Schteingart, Miriam T., Sugar, Alan, Eibschitz-Tsimhoni, Maya, Downs, Catherine A., Rozsa, Frank, Trager, Edward H., Reed, David M., Boehnke, Michael, Moroi, Sayoko E., Richards, Julia E.
Baskı/Yayın Bilgisi 2004

Mutations in TCF8 Cause Posterior Polymorphous Corneal Dystrophy and Ectopic Expression of COL4A3 by Corneal Endothelial Cells

Yazar: Krafchak, Charles M. , Pawar, Hemant , Moroi, Sayoko E. , Sugar, Alan , Lichter, Paul R. , Mackey, David A. , Mian, Shahzad , Nairus, Theresa , Elner, Victor , Schteingart, Miriam T. , Downs, Catherine A. , Kijek, Theresa Guckian , Johnson, Jenae M. , Trager, Edward H. , Rozsa, Frank W. , Ali Mandal, Md Nawajes , Epstein, Michael P. , Vollrath, Douglas , Ayyagari, Radha , Boehnke, Michael , Richards, Julia E. 
Baskı/Yayın Bilgisi 2005

Variation in optineurin (OPTN) allele frequencies between and within populations

Yazar: Ayala-Lugo, Rosa M., Pawar, Hemant, Reed, David M., Lichter, Paul R., Moroi, Sayoko E., Page, Michael, Eadie, James, Azocar, Veronica, Maul, Eugenio, Ntim-Amponsah, Christine, Bromley, William, Obeng-Nyarkoh, Ebenezer, Johnson, A. Tim, Kijek, Theresa Guckian, Downs, Catherine A., Johnson, Jenae M., Perez-Grossmann, Rodolfo A., Guevara-Fujita, Maria-Luisa, Fujita, Ricardo, Wallace, Margaret R., Richards, Julia E.
Baskı/Yayın Bilgisi 2007