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1995 1
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Page 1
Craniofacial developmental abnormalities.
Elmslie FV, Reardon W. Elmslie FV, et al. Curr Opin Neurol. 1998 Apr;11(2):103-8. doi: 10.1097/00019052-199804000-00004. Curr Opin Neurol. 1998. PMID: 9551288 Review.
Alagille syndrome: family studies.
Elmslie FV, Vivian AJ, Gardiner H, Hall C, Mowat AP, Winter RM. Elmslie FV, et al. J Med Genet. 1995 Apr;32(4):264-8. doi: 10.1136/jmg.32.4.264. J Med Genet. 1995. PMID: 7643353 Free PMC article.
De novo mutations in MLL cause Wiedemann-Steiner syndrome.
Jones WD, Dafou D, McEntagart M, Woollard WJ, Elmslie FV, Holder-Espinasse M, Irving M, Saggar AK, Smithson S, Trembath RC, Deshpande C, Simpson MA. Jones WD, et al. Among authors: elmslie fv. Am J Hum Genet. 2012 Aug 10;91(2):358-64. doi: 10.1016/j.ajhg.2012.06.008. Epub 2012 Jul 12. Am J Hum Genet. 2012. PMID: 22795537 Free PMC article.
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
Koolen DA, Kramer JM, Neveling K, Nillesen WM, Moore-Barton HL, Elmslie FV, Toutain A, Amiel J, Malan V, Tsai AC, Cheung SW, Gilissen C, Verwiel ET, Martens S, Feuth T, Bongers EM, de Vries P, Scheffer H, Vissers LE, de Brouwer AP, Brunner HG, Veltman JA, Schenck A, Yntema HG, de Vries BB. Koolen DA, et al. Among authors: elmslie fv. Nat Genet. 2012 Apr 29;44(6):639-41. doi: 10.1038/ng.2262. Nat Genet. 2012. PMID: 22544363
Paroxysmal extreme pain disorder (previously familial rectal pain syndrome).
Fertleman CR, Ferrie CD, Aicardi J, Bednarek NA, Eeg-Olofsson O, Elmslie FV, Griesemer DA, Goutières F, Kirkpatrick M, Malmros IN, Pollitzer M, Rossiter M, Roulet-Perez E, Schubert R, Smith VV, Testard H, Wong V, Stephenson JB. Fertleman CR, et al. Among authors: elmslie fv. Neurology. 2007 Aug 7;69(6):586-95. doi: 10.1212/01.wnl.0000268065.16865.5f. Neurology. 2007. PMID: 17679678
Familial rectal pain: is it under-diagnosed?
Elmslie FV, Wilson J, Rossiter MA. Elmslie FV, et al. J R Soc Med. 1996 May;89(5):290P-1P. doi: 10.1177/014107689608900525. J R Soc Med. 1996. PMID: 8778439 Free PMC article. No abstract available.
A new Nav1.7 sodium channel mutation I234T in a child with severe pain.
Ahn HS, Dib-Hajj SD, Cox JJ, Tyrrell L, Elmslie FV, Clarke AA, Drenth JP, Woods CG, Waxman SG. Ahn HS, et al. Among authors: elmslie fv. Eur J Pain. 2010 Oct;14(9):944-50. doi: 10.1016/j.ejpain.2010.03.007. Epub 2010 Apr 10. Eur J Pain. 2010. PMID: 20385509
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