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Items: 4

Select item 41492201.

Diamond-Blackfan Anemia with Mandibulofacial Dystostosis is Heterogeneous, Including the Novel DBA Genes TSR2 and RPS28

Karen W. Gripp, Cynthia Curry, Ann Haskins Olney, Claudio Sandoval, Jamie Fisher, Jessica Xiao-Ling Chong, UW Center for Mendelian Genomics, Lisa Pilchman, Rebecca Sahraoui, Deborah L. Stabley, Katia Sol-Church

Am J Med Genet A. Author manuscript; available in PMC 2015 Sep 1.

Published in final edited form as: Am J Med Genet A. 2014 Sep; 164(9): 2240–2249. Published online 2014 Jun 18. doi: 10.1002/ajmg.a.36633

PMCID:: PMC4149220

Abstract Article PDF–308K

Select item 28689952.

Massively Parallel Sequencing of Exons on the X Chromosome Identifies RBM10 as the Gene that Causes a Syndromic Form of Cleft Palate

Jennifer J. Johnston, Jamie K. Teer, Praveen F. Cherukuri, Nancy F. Hansen, Stacie K. Loftus, NIH Intramural Sequencing Center, Karen Chong, James C. Mullikin, Leslie G. Biesecker

Am J Hum Genet. 2010 May 14; 86(5): 743–748. doi: 10.1016/j.ajhg.2010.04.007