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Page 1
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.
Gao HZ, Kobayashi K, Tabata A, Tsuge H, Iijima M, Yasuda T, Kalkanoglu HS, Dursun A, Tokatli A, Coskun T, Trefz FK, Skladal D, Mandel H, Seidel J, Kodama S, Shirane S, Ichida T, Makino S, Yoshino M, Kang JH, Mizuguchi M, Barshop BA, Fuchinoue S, Seneca S, Zeesman S, Knerr I, Rodés M, Wasant P, Yoshida I, De Meirleir L, Abdul Jalil M, Begum L, Horiuchi M, Katunuma N, Nakagawa S, Saheki T. Gao HZ, et al. Among authors: zeesman s. Hum Mutat. 2003 Jul;22(1):24-34. doi: 10.1002/humu.10230. Hum Mutat. 2003. PMID: 12815590
Pregnancy in a healthy woman with untreated citrullinemia.
Potter MA, Zeesman S, Brennan B, Kobayashi K, Gao HZ, Tabata A, Saheki T, Whelan DT. Potter MA, et al. Among authors: zeesman s. Am J Med Genet A. 2004 Aug 15;129A(1):77-82. doi: 10.1002/ajmg.a.20559. Am J Med Genet A. 2004. PMID: 15266621
Paternal transmission of fragile X syndrome.
Zeesman S, Zwaigenbaum L, Whelan DT, Hagerman RJ, Tassone F, Taylor SA. Zeesman S, et al. Am J Med Genet A. 2004 Aug 30;129A(2):184-9. doi: 10.1002/ajmg.a.30191. Am J Med Genet A. 2004. PMID: 15316964
Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?
Nowaczyk MJ, Thompson BA, Zeesman S, Moog U, Sanchez-Lara PA, Magoulas PL, Falk RE, Hoover-Fong JE, Batista DA, Amudhavalli SM, White SM, Graham GE, Rauen KA. Nowaczyk MJ, et al. Among authors: zeesman s. Clin Genet. 2014 Feb;85(2):138-46. doi: 10.1111/cge.12116. Epub 2013 Apr 2. Clin Genet. 2014. PMID: 23379592 Free PMC article.
28 results