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528 results
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Germline mosaicism in X-linked myotubular myopathy.
Häne BG, Rogers RC, Schwartz CE. Häne BG, et al. Among authors: schwartz ce. Clin Genet. 1999 Jul;56(1):77-81. doi: 10.1034/j.1399-0004.1999.560111.x. Clin Genet. 1999. PMID: 10466421
Renpenning syndrome comes into focus.
Stevenson RE, Bennett CW, Abidi F, Kleefstra T, Porteous M, Simensen RJ, Lubs HA, Hamel BC, Schwartz CE. Stevenson RE, et al. Among authors: schwartz ce. Am J Med Genet A. 2005 May 1;134(4):415-21. doi: 10.1002/ajmg.a.30664. Am J Med Genet A. 2005. PMID: 15782410
Cognitive function in Coffin-Lowry syndrome.
Simensen RJ, Abidi F, Collins JS, Schwartz CE, Stevenson RE. Simensen RJ, et al. Among authors: schwartz ce. Clin Genet. 2002 Apr;61(4):299-304. doi: 10.1034/j.1399-0004.2002.610410.x. Clin Genet. 2002. PMID: 12030896
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.
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