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244 results

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Page 1
Familial pityriasis rubra pilaris is caused by mutations in CARD14.
Fuchs-Telem D, Sarig O, van Steensel MA, Isakov O, Israeli S, Nousbeck J, Richard K, Winnepenninckx V, Vernooij M, Shomron N, Uitto J, Fleckman P, Richard G, Sprecher E. Fuchs-Telem D, et al. Among authors: shomron n. Am J Hum Genet. 2012 Jul 13;91(1):163-70. doi: 10.1016/j.ajhg.2012.05.010. Epub 2012 Jun 14. Am J Hum Genet. 2012. PMID: 22703878 Free PMC article.
Cole Disease Results from Mutations in ENPP1.
Eytan O, Morice-Picard F, Sarig O, Ezzedine K, Isakov O, Li Q, Ishida-Yamamoto A, Shomron N, Goldsmith T, Fuchs-Telem D, Adir N, Uitto J, Orlow SJ, Taieb A, Sprecher E. Eytan O, et al. Among authors: shomron n. Am J Hum Genet. 2013 Oct 3;93(4):752-7. doi: 10.1016/j.ajhg.2013.08.007. Epub 2013 Sep 26. Am J Hum Genet. 2013. PMID: 24075184 Free PMC article.
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).
Haer-Wigman L, Newman H, Leibu R, Bax NM, Baris HN, Rizel L, Banin E, Massarweh A, Roosing S, Lefeber DJ, Zonneveld-Vrieling MN, Isakov O, Shomron N, Sharon D, Den Hollander AI, Hoyng CB, Cremers FP, Ben-Yosef T. Haer-Wigman L, et al. Among authors: shomron n. Hum Mol Genet. 2015 Jul 1;24(13):3742-51. doi: 10.1093/hmg/ddv118. Epub 2015 Apr 9. Hum Mol Genet. 2015. PMID: 25859010 Free PMC article.
X-linked elliptocytosis with impaired growth is related to mutated AMMECR1.
Basel-Vanagaite L, Pillar N, Isakov O, Smirin-Yosef P, Lagovsky I, Orenstein N, Salmon-Divon M, Tamary H, Zaft T, Bazak L, Meyerovitch J, Pelli T, Botchan S, Farberov L, Weissglas-Volkov D, Shomron N. Basel-Vanagaite L, et al. Among authors: shomron n. Gene. 2017 Mar 30;606:47-52. doi: 10.1016/j.gene.2017.01.001. Epub 2017 Jan 9. Gene. 2017. PMID: 28089922
MicroRNAs as predictors for CNS relapse of systemic diffuse large B-cell lymphoma.
Pillar N, Bairey O, Goldschmidt N, Fellig Y, Rosenblat Y, Shehtman I, Haguel D, Raanani P, Shomron N, Siegal T. Pillar N, et al. Among authors: shomron n. Oncotarget. 2017 Sep 15;8(49):86020-86030. doi: 10.18632/oncotarget.20902. eCollection 2017 Oct 17. Oncotarget. 2017. PMID: 29156774 Free PMC article.
Corrigendum to "X-linked elliptocytosis with impaired growth is related to mutated AMMECR1" [Gene 606C (2017) 47-52].
Basel-Vanagaite L, Pillar N, Isakov O, Smirin-Yosef P, Lagovsky I, Orenstein N, Salmon-Divon M, Tamary H, Zaft T, Bazak L, Meyerovitch J, Pelli T, Botchan S, Farberov L, Weissglas-Volkov D, Shomron N. Basel-Vanagaite L, et al. Among authors: shomron n. Gene. 2018 Feb 20;644:155. doi: 10.1016/j.gene.2017.11.051. Epub 2017 Nov 27. Gene. 2018. PMID: 29174631 No abstract available.
Bayesian-based noninvasive prenatal diagnosis of single-gene disorders.
Rabinowitz T, Polsky A, Golan D, Danilevsky A, Shapira G, Raff C, Basel-Salmon L, Matar RT, Shomron N. Rabinowitz T, et al. Among authors: shomron n. Genome Res. 2019 Mar;29(3):428-438. doi: 10.1101/gr.235796.118. Epub 2019 Feb 20. Genome Res. 2019. PMID: 30787035 Free PMC article.
244 results