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Sheldon-Hall syndrome.
Toydemir RM, Bamshad MJ. Toydemir RM, et al. Orphanet J Rare Dis. 2009 Mar 23;4:11. doi: 10.1186/1750-1172-4-11. Orphanet J Rare Dis. 2009. PMID: 19309503 Free PMC article. Review.
Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype.
Brassington AM, Sung SS, Toydemir RM, Le T, Roeder AD, Rutherford AE, Whitby FG, Jorde LB, Bamshad MJ. Brassington AM, et al. Among authors: toydemir rm. Am J Hum Genet. 2003 Jul;73(1):74-85. doi: 10.1086/376436. Epub 2003 Jun 3. Am J Hum Genet. 2003. PMID: 12789647 Free PMC article.
L1CAM whole gene deletion in a child with L1 syndrome.
Chidsey BA, Baldwin EE, Toydemir R, Ahles L, Hanson H, Stevenson DA. Chidsey BA, et al. Am J Med Genet A. 2014 Jun;164A(6):1555-8. doi: 10.1002/ajmg.a.36474. Epub 2014 Mar 25. Am J Med Genet A. 2014. PMID: 24668863
Clinical features of trisomy 12 mosaicism-Report and review.
Hong B, Zunich J, Openshaw A, Toydemir RM. Hong B, et al. Among authors: toydemir rm. Am J Med Genet A. 2017 Jun;173(6):1681-1686. doi: 10.1002/ajmg.a.38194. Epub 2017 Mar 27. Am J Med Genet A. 2017. PMID: 28345774
29 results