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Novel mutations in the emerin gene in Israeli families.
Nevo Y, Ahituv S, Yaron Y, Kedmi M, Shomrat R, Legum C, Orr-Urtreger A. Nevo Y, et al. Among authors: kedmi m. Hum Mutat. 2001 Jun;17(6):522. doi: 10.1002/humu.1139. Hum Mutat. 2001. PMID: 11385714
Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.
Vacic V, Ozelius LJ, Clark LN, Bar-Shira A, Gana-Weisz M, Gurevich T, Gusev A, Kedmi M, Kenny EE, Liu X, Mejia-Santana H, Mirelman A, Raymond D, Saunders-Pullman R, Desnick RJ, Atzmon G, Burns ER, Ostrer H, Hakonarson H, Bergman A, Barzilai N, Darvasi A, Peter I, Guha S, Lencz T, Giladi N, Marder K, Pe'er I, Bressman SB, Orr-Urtreger A. Vacic V, et al. Among authors: kedmi m. Hum Mol Genet. 2014 Sep 1;23(17):4693-702. doi: 10.1093/hmg/ddu158. Epub 2014 May 19. Hum Mol Genet. 2014. PMID: 24842889 Free PMC article.
A novel mutation in TARDBP segregates with amyotrophic lateral sclerosis in a large family with early onset and fast progression.
Goldstein O, Kedmi M, Gana-Weisz M, Nefussy B, Vainer B, Fainmesser Y, Drory VE, Orr-Urtreger A. Goldstein O, et al. Among authors: kedmi m. Amyotroph Lateral Scler Frontotemporal Degener. 2020 May;21(3-4):280-285. doi: 10.1080/21678421.2020.1747496. Epub 2020 Apr 7. Amyotroph Lateral Scler Frontotemporal Degener. 2020. PMID: 32253937
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