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Mutations in HPSE2 cause urofacial syndrome.
Daly SB, Urquhart JE, Hilton E, McKenzie EA, Kammerer RA, Lewis M, Kerr B, Stuart H, Donnai D, Long DA, Burgu B, Aydogdu O, Derbent M, Garcia-Minaur S, Reardon W, Gener B, Shalev S, Smith R, Woolf AS, Black GC, Newman WG. Daly SB, et al. Among authors: newman wg. Am J Hum Genet. 2010 Jun 11;86(6):963-9. doi: 10.1016/j.ajhg.2010.05.006. Am J Hum Genet. 2010. PMID: 20560210 Free PMC article.
Expanding the clinical spectrum of SLC29A3 gene defects.
Spiegel R, Cliffe ST, Buckley MF, Crow YJ, Urquhart J, Horovitz Y, Tenenbaum-Rakover Y, Newman WG, Donnai D, Shalev SA. Spiegel R, et al. Among authors: newman wg. Eur J Med Genet. 2010 Sep-Oct;53(5):309-13. doi: 10.1016/j.ejmg.2010.06.012. Epub 2010 Jul 7. Eur J Med Genet. 2010. PMID: 20619369
Mutations in the G6PC3 gene cause Dursun syndrome.
Banka S, Newman WG, Ozgül RK, Dursun A. Banka S, et al. Among authors: newman wg. Am J Med Genet A. 2010 Oct;152A(10):2609-11. doi: 10.1002/ajmg.a.33615. Am J Med Genet A. 2010. PMID: 20799326
Pernicious anemia - genetic insights.
Banka S, Ryan K, Thomson W, Newman WG. Banka S, et al. Among authors: newman wg. Autoimmun Rev. 2011 Jun;10(8):455-9. doi: 10.1016/j.autrev.2011.01.009. Epub 2011 Feb 4. Autoimmun Rev. 2011. PMID: 21296191 Review.
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency.
Banka S, Blom HJ, Walter J, Aziz M, Urquhart J, Clouthier CM, Rice GI, de Brouwer AP, Hilton E, Vassallo G, Will A, Smith DE, Smulders YM, Wevers RA, Steinfeld R, Heales S, Crow YJ, Pelletier JN, Jones S, Newman WG. Banka S, et al. Among authors: newman wg. Am J Hum Genet. 2011 Feb 11;88(2):216-25. doi: 10.1016/j.ajhg.2011.01.004. Am J Hum Genet. 2011. PMID: 21310276 Free PMC article.
341 results