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Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
Faundes V, Newman WG, Bernardini L, Canham N, Clayton-Smith J, Dallapiccola B, Davies SJ, Demos MK, Goldman A, Gill H, Horton R, Kerr B, Kumar D, Lehman A, McKee S, Morton J, Parker MJ, Rankin J, Robertson L, Temple IK; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study; Deciphering Developmental Disorders (DDD) Study; Banka S. Faundes V, et al. Among authors: banka s. Am J Hum Genet. 2018 Jan 4;102(1):175-187. doi: 10.1016/j.ajhg.2017.11.013. Epub 2017 Dec 21. Am J Hum Genet. 2018. PMID: 29276005 Free PMC article.
Array comparative genomic hybridisation-based identification of two imbalances of chromosome 1p in a 9-year-old girl with a monosomy 1p36 related phenotype and a family history of learning difficulties: a case report.
Fitzgibbon GJ, Clayton-Smith J, Banka S, Hamilton SJ, Needham MM, Dore JK, Miller JT, Pawson GD, Gaunt L. Fitzgibbon GJ, et al. Among authors: banka s. J Med Case Rep. 2008 Nov 19;2:355. doi: 10.1186/1752-1947-2-355. J Med Case Rep. 2008. PMID: 19019217 Free PMC article.
Mutations in the G6PC3 gene cause Dursun syndrome.
Banka S, Newman WG, Ozgül RK, Dursun A. Banka S, et al. 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. 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. 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.
186 results