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9th international workshop on fragile X syndrome and X-linked mental retardation.
Fryns JP, Borghgraef M, Brown TW, Chelly J, Fisch GS, Hamel B, Hanauer A, Lacombe D, Luo L, MacPherson JN, Mandel JL, Moraine C, Mulley J, Nelson D, Oostra B, Partington M, Ramakers GJ, Ropers HH, Rousseau F, Schwartz C, Steinbach P, Stoll C, Tranebjaerg L, Turner G, Van Bokhoven H, Vianna-Morgante A. Fryns JP, et al. Among authors: steinbach p. Am J Med Genet. 2000 Oct 23;94(5):345-60. doi: 10.1002/1096-8628(20001023)94:5<345::aid-ajmg1>3.0.co;2-z. Am J Med Genet. 2000. PMID: 11050616 No abstract available.
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.
Nolin SL, Brown WT, Glicksman A, Houck GE Jr, Gargano AD, Sullivan A, Biancalana V, Bröndum-Nielsen K, Hjalgrim H, Holinski-Feder E, Kooy F, Longshore J, Macpherson J, Mandel JL, Matthijs G, Rousseau F, Steinbach P, Väisänen ML, von Koskull H, Sherman SL. Nolin SL, et al. Among authors: steinbach p. Am J Hum Genet. 2003 Feb;72(2):454-64. doi: 10.1086/367713. Epub 2003 Jan 14. Am J Hum Genet. 2003. PMID: 12529854 Free PMC article.
Characterization of FMR1 promoter elements by in vivo-footprinting analysis.
Schwemmle S, de Graaff E, Deissler H, Gläser D, Wöhrle D, Kennerknecht I, Just W, Oostra BA, Döerfler W, Vogel W, Steinbach P. Schwemmle S, et al. Among authors: steinbach p. Am J Hum Genet. 1997 Jun;60(6):1354-62. doi: 10.1086/515456. Am J Hum Genet. 1997. PMID: 9199556 Free PMC article.
Fragile X: carrier detection in pregnancy.
Tommerup N, Holmgren G, Steinbach P. Tommerup N, et al. Among authors: steinbach p. Am J Med Genet. 1986 Jan-Feb;23(1-2):527-30. doi: 10.1002/ajmg.1320230144. Am J Med Genet. 1986. PMID: 3953663
305 results