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Page 1
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.
Navon Elkan P, Pierce SB, Segel R, Walsh T, Barash J, Padeh S, Zlotogorski A, Berkun Y, Press JJ, Mukamel M, Voth I, Hashkes PJ, Harel L, Hoffer V, Ling E, Yalcinkaya F, Kasapcopur O, Lee MK, Klevit RE, Renbaum P, Weinberg-Shukron A, Sener EF, Schormair B, Zeligson S, Marek-Yagel D, Strom TM, Shohat M, Singer A, Rubinow A, Pras E, Winkelmann J, Tekin M, Anikster Y, King MC, Levy-Lahad E. Navon Elkan P, et al. N Engl J Med. 2014 Mar 6;370(10):921-31. doi: 10.1056/NEJMoa1307362. Epub 2014 Feb 19. N Engl J Med. 2014. PMID: 24552285 Free article.
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families.
Brownstein Z, Friedman LM, Shahin H, Oron-Karni V, Kol N, Abu Rayyan A, Parzefall T, Lev D, Shalev S, Frydman M, Davidov B, Shohat M, Rahile M, Lieberman S, Levy-Lahad E, Lee MK, Shomron N, King MC, Walsh T, Kanaan M, Avraham KB. Brownstein Z, et al. Genome Biol. 2011 Sep 14;12(9):R89. doi: 10.1186/gb-2011-12-9-r89. Genome Biol. 2011. PMID: 21917145 Free PMC article.
Mutant ADA2 in vasculopathies.
Segel R, King MC, Levy-Lahad E. Segel R, et al. N Engl J Med. 2014 Jul 31;371(5):481. doi: 10.1056/NEJMc1405506. N Engl J Med. 2014. PMID: 25083540 No abstract available.
Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2.
Gabai-Kapara E, Lahad A, Kaufman B, Friedman E, Segev S, Renbaum P, Beeri R, Gal M, Grinshpun-Cohen J, Djemal K, Mandell JB, Lee MK, Beller U, Catane R, King MC, Levy-Lahad E. Gabai-Kapara E, et al. Proc Natl Acad Sci U S A. 2014 Sep 30;111(39):14205-10. doi: 10.1073/pnas.1415979111. Epub 2014 Sep 5. Proc Natl Acad Sci U S A. 2014. PMID: 25192939 Free PMC article.
180 results