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Audiologic features of Norrie disease.
Halpin C, Owen G, Gutiérrez-Espeleta GA, Sims K, Rehm HL. Halpin C, et al. Ann Otol Rhinol Laryngol. 2005 Jul;114(7):533-8. doi: 10.1177/000348940511400707. Ann Otol Rhinol Laryngol. 2005. PMID: 16134349 Free article.
Mutations in the Norrie disease gene.
Schuback DE, Chen ZY, Craig IW, Breakefield XO, Sims KB. Schuback DE, et al. Among authors: sims kb. Hum Mutat. 1995;5(4):285-92. doi: 10.1002/humu.1380050403. Hum Mutat. 1995. PMID: 7627181
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.
Talkowski ME, Rosenfeld JA, Blumenthal I, Pillalamarri V, Chiang C, Heilbut A, Ernst C, Hanscom C, Rossin E, Lindgren AM, Pereira S, Ruderfer D, Kirby A, Ripke S, Harris DJ, Lee JH, Ha K, Kim HG, Solomon BD, Gropman AL, Lucente D, Sims K, Ohsumi TK, Borowsky ML, Loranger S, Quade B, Lage K, Miles J, Wu BL, Shen Y, Neale B, Shaffer LG, Daly MJ, Morton CC, Gusella JF. Talkowski ME, et al. Cell. 2012 Apr 27;149(3):525-37. doi: 10.1016/j.cell.2012.03.028. Epub 2012 Apr 19. Cell. 2012. PMID: 22521361 Free PMC article.
109 results