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Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
Simons C, Rash LD, Crawford J, Ma L, Cristofori-Armstrong B, Miller D, Ru K, Baillie GJ, Alanay Y, Jacquinet A, Debray FG, Verloes A, Shen J, Yesil G, Guler S, Yuksel A, Cleary JG, Grimmond SM, McGaughran J, King GF, Gabbett MT, Taft RJ. Simons C, et al. Among authors: yuksel a. Nat Genet. 2015 Jan;47(1):73-7. doi: 10.1038/ng.3153. Epub 2014 Nov 24. Nat Genet. 2015. PMID: 25420144
Report of a patient with Temple-Baraitser syndrome.
Yesil G, Guler S, Yuksel A, Alanay Y. Yesil G, et al. Among authors: yuksel a. Am J Med Genet A. 2014 Mar;164A(3):848-51. doi: 10.1002/ajmg.a.36344. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357613 No abstract available.
Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
Simons C, Rash LD, Crawford J, Ma L, Cristofori-Armstrong B, Miller D, Ru K, Baillie GJ, Alanay Y, Jacquinet A, Debray FG, Verloes A, Shen J, Yesil G, Guler S, Yuksel A, Cleary JG, Grimmond SM, McGaughran J, King GF, Gabbett MT, Taft RJ. Simons C, et al. Among authors: yuksel a. Nat Genet. 2015 Mar;47(3):304. doi: 10.1038/ng0315-304b. Nat Genet. 2015. PMID: 25711872 No abstract available.
Warburg Micro syndrome in a Turkish boy.
Yüksel A, Yesil G, Aras C, Seven M. Yüksel A, et al. Clin Dysmorphol. 2007 Apr;16(2):89-93. doi: 10.1097/MCD.0b013e328054c404. Clin Dysmorphol. 2007. PMID: 17351351
393 results