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Page 1
Biallelic variants in RNU12 cause CDAGS syndrome.
Xing C, Kanchwala M, Rios JJ, Hyatt T, Wang RC, Tran A, Dougherty I, Tovar-Garza A, Purnadi C, Kumar MG, Berk D, Shinawi M, Irvine AD, Toledo-Bahena M, Agim NG, Glass DA 2nd. Xing C, et al. Among authors: berk d. Hum Mutat. 2021 Aug;42(8):1042-1052. doi: 10.1002/humu.24239. Epub 2021 Jun 15. Hum Mutat. 2021. PMID: 34085356
ADULT syndrome due to an R243W mutation in TP63.
Berk DR, Armstrong NL, Shinawi M, Whelan AJ. Berk DR, et al. Int J Dermatol. 2012 Jun;51(6):693-6. doi: 10.1111/j.1365-4632.2011.05375.x. Int J Dermatol. 2012. PMID: 22607287
Skin findings in Williams syndrome.
Kozel BA, Bayliss SJ, Berk DR, Waxler JL, Knutsen RH, Danback JR, Pober BR. Kozel BA, et al. Am J Med Genet A. 2014 Sep;164A(9):2217-25. doi: 10.1002/ajmg.a.36628. Epub 2014 Jun 11. Am J Med Genet A. 2014. PMID: 24920525 Free PMC article.
Topical cidofovir for refractory verrucae in children.
Gupta M, Bayliss SJ, Berk DR. Gupta M, et al. Pediatr Dermatol. 2013 Jan-Feb;30(1):131-4. doi: 10.1111/j.1525-1470.2012.01798.x. Epub 2012 Sep 26. Pediatr Dermatol. 2013. PMID: 23013353
Neutrophilic dermatoses in children.
Berk DR, Bayliss SJ. Berk DR, et al. Pediatr Dermatol. 2008 Sep-Oct;25(5):509-19. doi: 10.1111/j.1525-1470.2008.00765.x. Pediatr Dermatol. 2008. PMID: 18950391 Review.
201 results