Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Text availability
Article attribute
Article type
Publication date

Search Results

175 results
Filters applied: . Clear all Results are displayed in a computed author sort order. Results by year timeline is unavailable
Page 1
Mutated MESP2 causes spondylocostal dysostosis in humans.
Whittock NV, Sparrow DB, Wouters MA, Sillence D, Ellard S, Dunwoodie SL, Turnpenny PD. Whittock NV, et al. Am J Hum Genet. 2004 Jun;74(6):1249-54. doi: 10.1086/421053. Epub 2004 Apr 30. Am J Hum Genet. 2004. PMID: 15122512 Free PMC article.
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.
Williamson KA, Hever AM, Rainger J, Rogers RC, Magee A, Fiedler Z, Keng WT, Sharkey FH, McGill N, Hill CJ, Schneider A, Messina M, Turnpenny PD, Fantes JA, van Heyningen V, FitzPatrick DR. Williamson KA, et al. Hum Mol Genet. 2006 May 1;15(9):1413-22. doi: 10.1093/hmg/ddl064. Epub 2006 Mar 16. Hum Mol Genet. 2006. PMID: 16543359
Fetal anticonvulsant syndromes and polymorphisms in MTHFR, MTR, and MTRR.
Dean J, Robertson Z, Reid V, Wang QD, Hailey H, Moore S, Rasalam AD, Turnpenny P, Lloyd D, Cardy A, Shaw D, Little J. Dean J, et al. Among authors: turnpenny p. Am J Med Genet A. 2007 Oct 1;143A(19):2303-11. doi: 10.1002/ajmg.a.31914. Am J Med Genet A. 2007. PMID: 17853476
175 results