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PDGFRa mutations in humans with isolated cleft palate.
Rattanasopha S, Tongkobpetch S, Srichomthong C, Siriwan P, Suphapeetiporn K, Shotelersuk V. Rattanasopha S, et al. Among authors: srichomthong c. Eur J Hum Genet. 2012 Oct;20(10):1058-62. doi: 10.1038/ejhg.2012.55. Epub 2012 Apr 4. Eur J Hum Genet. 2012. PMID: 22473090 Free PMC article.
Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2.
Tammachote R, Kingsuwannapong N, Tongkobpetch S, Srichomthong C, Yeetong P, Kingwatanakul P, Monico CG, Suphapeetiporn K, Shotelersuk V. Tammachote R, et al. Among authors: srichomthong c. Am J Med Genet A. 2012 Sep;158A(9):2124-30. doi: 10.1002/ajmg.a.35495. Epub 2012 Jul 20. Am J Med Genet A. 2012. PMID: 22821680
A common and two novel GBA mutations in Thai patients with Gaucher disease.
Tammachote R, Tongkobpetch S, Srichomthong C, Phipatthanananti K, Pungkanon S, Wattanasirichaigoon D, Suphapeetiporn K, Shotelersuk V. Tammachote R, et al. Among authors: srichomthong c. J Hum Genet. 2013 Sep;58(9):594-9. doi: 10.1038/jhg.2013.60. Epub 2013 May 30. J Hum Genet. 2013. PMID: 23719189
55 results