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307 results

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Noncoding deletions reveal a gene that is critical for intestinal function.
Oz-Levi D, Olender T, Bar-Joseph I, Zhu Y, Marek-Yagel D, Barozzi I, Osterwalder M, Alkelai A, Ruzzo EK, Han Y, Vos ESM, Reznik-Wolf H, Hartman C, Shamir R, Weiss B, Shapiro R, Pode-Shakked B, Tatarskyy P, Milgrom R, Schvimer M, Barshack I, Imai DM, Coleman-Derr D, Dickel DE, Nord AS, Afzal V, van Bueren KL, Barnes RM, Black BL, Mayhew CN, Kuhar MF, Pitstick A, Tekman M, Stanescu HC, Wells JM, Kleta R, de Laat W, Goldstein DB, Pras E, Visel A, Lancet D, Anikster Y, Pennacchio LA. Oz-Levi D, et al. Among authors: pras e. Nature. 2019 Jul;571(7763):107-111. doi: 10.1038/s41586-019-1312-2. Epub 2019 Jun 19. Nature. 2019. PMID: 31217582 Free PMC article.
Is E148Q a benign polymorphism or a disease-causing mutation?
Marek-Yagel D, Bar-Joseph I, Pras E, Berkun Y. Marek-Yagel D, et al. Among authors: pras e. J Rheumatol. 2009 Oct;36(10):2372. doi: 10.3899/jrheum.090250. J Rheumatol. 2009. PMID: 19820229 No abstract available.
Role of the R92Q TNFRSF1A mutation in patients with familial Mediterranean fever.
Marek-Yagel D, Berkun Y, Padeh S, Lidar M, Shinar Y, Bar-Joseph I, Reznik-Wolf H, Langevitz P, Livneh A, Pras E. Marek-Yagel D, et al. Among authors: pras e. Arthritis Care Res (Hoboken). 2010 Sep;62(9):1294-8. doi: 10.1002/acr.20213. Arthritis Care Res (Hoboken). 2010. PMID: 20506103 Free article.
A novel mutation in the HCN4 gene causes symptomatic sinus bradycardia in Moroccan Jews.
Laish-Farkash A, Glikson M, Brass D, Marek-Yagel D, Pras E, Dascal N, Antzelevitch C, Nof E, Reznik H, Eldar M, Luria D. Laish-Farkash A, et al. Among authors: pras e. J Cardiovasc Electrophysiol. 2010 Dec;21(12):1365-72. doi: 10.1111/j.1540-8167.2010.01844.x. J Cardiovasc Electrophysiol. 2010. PMID: 20662977 Free PMC article.
307 results