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Screen for MAOA mutations in target human groups.
Schuback DE, Mulligan EL, Sims KB, Tivol EA, Greenberg BD, Chang SF, Yang SL, Mau YC, Shen CY, Ho MS, Yang NH, Butler MG, Fink S, Schwartz CE, Berlin F, Breakefield XO, Murphy DL, Hsu YP. Schuback DE, et al. Among authors: schwartz ce. Am J Med Genet. 1999 Feb 5;88(1):25-8. Am J Med Genet. 1999. PMID: 10050962 Free PMC article.
Norman-Roberts syndrome: clinical and molecular studies.
Iannetti P, Schwartz CE, Dietz-Band J, Light E, Timmerman J, Chessa L. Iannetti P, et al. Among authors: schwartz ce. Am J Med Genet. 1993 Aug 1;47(1):95-9. doi: 10.1002/ajmg.1320470120. Am J Med Genet. 1993. PMID: 8368261 Review.
New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome.
de Alencastro G, McCloskey DE, Kliemann SE, Maranduba CM, Pegg AE, Wang X, Bertola DR, Schwartz CE, Passos-Bueno MR, Sertié AL. de Alencastro G, et al. Among authors: schwartz ce. J Med Genet. 2008 Aug;45(8):539-43. doi: 10.1136/jmg.2007.056713. Epub 2008 Jun 11. J Med Genet. 2008. PMID: 18550699
SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability.
Roychaudhury A, Lee YR, Choi TI, Thomas MG, Khan TN, Yousaf H, Skinner C, Maconachie G, Crosier M, Horak H, Constantinescu CS, Kim TY, Lee KH, Kyung JJ, Wang T, Ku B, Chodirker BN, Hammer MF, Gottlob I, Norton WHJ, Gerlai R, Kim HG, Graziano C, Pippucci T, Iovino E, Montanari F, Severi G, Toro C, Boerkoel CF, Cha HS, Choi CY, Kim S, Yoon JH, Gilmore K, Vora NL, Davis EE, Chudley AE, Schwartz CE, Kim CH. Roychaudhury A, et al. Among authors: schwartz ce. Ann Neurol. 2024 Nov;96(5):914-931. doi: 10.1002/ana.27037. Epub 2024 Jul 29. Ann Neurol. 2024. PMID: 39073169 Free article.
583 results