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Human phenotypes associated with GATA-1 mutations.
Ciovacco WA, Raskind WH, Kacena MA. Ciovacco WA, et al. Among authors: raskind wh. Gene. 2008 Dec 31;427(1-2):1-6. doi: 10.1016/j.gene.2008.09.018. Epub 2008 Sep 30. Gene. 2008. PMID: 18930124 Free PMC article.
Inherited thrombocytopenia due to GATA-1 mutations.
Millikan PD, Balamohan SM, Raskind WH, Kacena MA. Millikan PD, et al. Among authors: raskind wh. Semin Thromb Hemost. 2011 Sep;37(6):682-9. doi: 10.1055/s-0031-1291378. Epub 2011 Nov 18. Semin Thromb Hemost. 2011. PMID: 22102271 Review.
Peripheral Neuropathy Caused by Proteolipid Protein Gene Mutations.
Garbern JY, Cambi F, Lewis R, Shy M, Sima A, Kraft G, Vallat JM, Bosch EP, Hodes ME, Dlouhy S, Raskind W, Bird T, Macklin W, Kamholz J. Garbern JY, et al. Ann N Y Acad Sci. 1999 Oct;883(1):351-365. doi: 10.1111/j.1749-6632.1999.tb08597.x. Ann N Y Acad Sci. 1999. PMID: 29086946
Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease.
Kunkle BW, Jaworski J, Barral S, Vardarajan B, Beecham GW, Martin ER, Cantwell LS, Partch A, Bird TD, Raskind WH, DeStefano AL, Carney RM, Cuccaro M, Vance JM, Farrer LA, Goate AM, Foroud T, Mayeux RP, Schellenberg GD, Haines JL, Pericak-Vance MA. Kunkle BW, et al. Among authors: raskind wh. Alzheimers Dement. 2016 Jan;12(1):2-10. doi: 10.1016/j.jalz.2015.05.020. Epub 2015 Sep 11. Alzheimers Dement. 2016. PMID: 26365416 Free PMC article.
Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.
Chen DH, Below JE, Shimamura A, Keel SB, Matsushita M, Wolff J, Sul Y, Bonkowski E, Castella M, Taniguchi T, Nickerson D, Papayannopoulou T, Bird TD, Raskind WH. Chen DH, et al. Among authors: raskind wh. Am J Hum Genet. 2016 Jun 2;98(6):1146-1158. doi: 10.1016/j.ajhg.2016.04.009. Am J Hum Genet. 2016. PMID: 27259050 Free PMC article.
190 results