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Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).
Basehore MJ, Michaelson-Cohen R, Levy-Lahad E, Sismani C, Bird LM, Friez MJ, Walsh T, Abidi F, Holloway L, Skinner C, McGee S, Alexandrou A, Syrrou M, Patsalis PC, Raymond G, Wang T, Schwartz CE, King MC, Stevenson RE. Basehore MJ, et al. Among authors: schwartz ce. Clin Genet. 2015 May;87(5):461-6. doi: 10.1111/cge.12420. Epub 2014 May 30. Clin Genet. 2015. PMID: 24805811 Review.
Allan-Herndon syndrome. I. Clinical studies.
Stevenson RE, Goodman HO, Schwartz CE, Simensen RJ, McLean WT Jr, Herndon CN. Stevenson RE, et al. Among authors: schwartz ce. Am J Hum Genet. 1990 Sep;47(3):446-53. Am J Hum Genet. 1990. PMID: 2393019 Free PMC article.
Fragile X syndrome: growth, development, and intellectual function.
Prouty LA, Rogers RC, Stevenson RE, Dean JH, Palmer KK, Simensen RJ, Coston GN, Schwartz CE. Prouty LA, et al. Among authors: schwartz ce. Am J Med Genet. 1988 May-Jun;30(1-2):123-42. doi: 10.1002/ajmg.1320300111. Am J Med Genet. 1988. PMID: 3177438
573 results