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A human gene (DDX10) encoding a putative DEAD-box RNA helicase at 11q22-q23.
Savitsky K, Ziv Y, Bar-Shira A, Gilad S, Tagle DA, Smith S, Uziel T, Sfez S, Nahmias J, Sartiel A, Eddy RL, Shows TB, Collins FS, Shiloh Y, Rotman G. Savitsky K, et al. Among authors: smith s. Genomics. 1996 Apr 15;33(2):199-206. doi: 10.1006/geno.1996.0184. Genomics. 1996. PMID: 8660968
A single ataxia telangiectasia gene with a product similar to PI-3 kinase.
Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, Tagle DA, Smith S, Uziel T, Sfez S, Ashkenazi M, Pecker I, Frydman M, Harnik R, Patanjali SR, Simmons A, Clines GA, Sartiel A, Gatti RA, Chessa L, Sanal O, Lavin MF, Jaspers NG, Taylor AM, Arlett CF, Miki T, Weissman SM, Lovett M, Collins FS, Shiloh Y. Savitsky K, et al. Among authors: smith s. Science. 1995 Jun 23;268(5218):1749-53. doi: 10.1126/science.7792600. Science. 1995. PMID: 7792600
Predominance of null mutations in ataxia-telangiectasia.
Gilad S, Khosravi R, Shkedy D, Uziel T, Ziv Y, Savitsky K, Rotman G, Smith S, Chessa L, Jorgensen TJ, Harnik R, Frydman M, Sanal O, Portnoi S, Goldwicz Z, Jaspers NG, Gatti RA, Lenoir G, Lavin MF, Tatsumi K, Wegner RD, Shiloh Y, Bar-Shira A. Gilad S, et al. Among authors: smith s. Hum Mol Genet. 1996 Apr;5(4):433-9. doi: 10.1093/hmg/5.4.433. Hum Mol Genet. 1996. PMID: 8845835 Free article.
Familial inverted duplication 7p.
Schaefer GB, Novak K, Steele D, Buehler B, Smith S, Zaleski D, Pickering D, Nelson M, Sanger W. Schaefer GB, et al. Among authors: smith s. Am J Med Genet. 1995 Mar 27;56(2):184-7. doi: 10.1002/ajmg.1320560214. Am J Med Genet. 1995. PMID: 7542835 Review.
The EUROGEM map of human chromosome 7.
Badbanchi F, Otto M, Kohlhauer U, Grzeschik N, Beck S, Smith SJ, Swallow DM, Kooy RF, Vergnaud G, Aldred M, et al. Badbanchi F, et al. Among authors: smith sj. Eur J Hum Genet. 1994;2(3):216-7. Eur J Hum Genet. 1994. PMID: 7834287 No abstract available.
Ulcerated CRTC1::TRIM11 cutaneous tumor with metastases.
Tseng C, Hein ECK, Smith SM, King I, Saibil S, Saeed Kamil Z. Tseng C, et al. Among authors: smith sm. J Cutan Pathol. 2024 Jun 15. doi: 10.1111/cup.14669. Online ahead of print. J Cutan Pathol. 2024. PMID: 38877838
21,112 results
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