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205 results

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Page 1
Glutaric Aciduria type I and acute renal failure - Coincidence or causality?
Pode-Shakked B, Marek-Yagel D, Rubinshtein M, Pessach IM, Paret G, Volkov A, Anikster Y, Lotan D. Pode-Shakked B, et al. Among authors: anikster y. Mol Genet Metab Rep. 2014 Apr 17;1:170-175. doi: 10.1016/j.ymgmr.2014.03.001. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896087 Free PMC article.
McArdle disease: a novel mutation in Jewish families from the Caucasus region.
Haimi Cohen Y, Shalva N, Markus-Eidlitz T, Sadeh M, Dabby R, Weintraub Y, Pode-Shakked B, Zeharia A, Anikster Y. Haimi Cohen Y, et al. Among authors: anikster y. Mol Genet Metab. 2012 Jul;106(3):379-81. doi: 10.1016/j.ymgme.2012.04.012. Epub 2012 Apr 23. Mol Genet Metab. 2012. PMID: 22608882
A dominant negative heterozygous G87R mutation in the zinc transporter, ZnT-2 (SLC30A2), results in transient neonatal zinc deficiency.
Lasry I, Seo YA, Ityel H, Shalva N, Pode-Shakked B, Glaser F, Berman B, Berezovsky I, Goncearenco A, Klar A, Levy J, Anikster Y, Kelleher SL, Assaraf YG. Lasry I, et al. Among authors: anikster y. J Biol Chem. 2012 Aug 24;287(35):29348-61. doi: 10.1074/jbc.M112.368159. Epub 2012 Jun 25. J Biol Chem. 2012. PMID: 22733820 Free PMC article. Clinical Trial.
Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia.
Bar-joseph I, Pras E, Reznik-Wolf H, Marek-Yagel D, Abu-Horvitz A, Dushnitzky M, Goldstein N, Rienstein S, Dekel M, Pode-Shakked B, Zlotnik J, Benarrosh A, Gillery P, Hofliger N, Auray-Blais C, Garnotel R, Anikster Y. Bar-joseph I, et al. Among authors: anikster y. Hum Genet. 2012 Nov;131(11):1805-10. doi: 10.1007/s00439-012-1207-x. Epub 2012 Jul 24. Hum Genet. 2012. PMID: 22825317
Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signaling.
Vivante A, Mark-Danieli M, Davidovits M, Harari-Steinberg O, Omer D, Gnatek Y, Cleper R, Landau D, Kovalski Y, Weissman I, Eisenstein I, Soudack M, Wolf HR, Issler N, Lotan D, Anikster Y, Dekel B. Vivante A, et al. Among authors: anikster y. J Am Soc Nephrol. 2013 Mar;24(4):550-8. doi: 10.1681/ASN.2012010097. Epub 2013 Mar 21. J Am Soc Nephrol. 2013. PMID: 23520208 Free PMC article.
205 results