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Ser77Tyr transthyretin amyloidosis in Israel: Initial manifestations and diagnostic features.
Dori A, Arad M, Wasserstrum Y, Pollak A, Nikitin V, Ben-David M, Shamash J, Nahum AH, Shavit-Stein E, Domachevsky L, Kuperstein R, Dominissini D, Shelestovich N, Sadeh M, Pras E, Greenbaum L. Dori A, et al. Among authors: pras e. Ann Clin Transl Neurol. 2023 Apr;10(4):553-567. doi: 10.1002/acn3.51741. Epub 2023 Feb 11. Ann Clin Transl Neurol. 2023. PMID: 36772971 Free PMC article.
Preimplantation genetic haplotyping a new application for diagnosis of translocation carrier's embryos- preliminary observations of two robertsonian translocation carrier families.
Shamash J, Rienstein S, Wolf-Reznik H, Pras E, Dekel M, Litmanovitch T, Brengauz M, Goldman B, Yonath H, Dor J, Levron J, Aviram-Goldring A. Shamash J, et al. Among authors: pras e. J Assist Reprod Genet. 2011 Jan;28(1):77-83. doi: 10.1007/s10815-010-9483-7. Epub 2010 Sep 25. J Assist Reprod Genet. 2011. PMID: 20872064 Free PMC article.
A novel titin mutation in adult-onset familial dilated cardiomyopathy.
Yoskovitz G, Peled Y, Gramlich M, Lahat H, Resnik-Wolf H, Feinberg MS, Afek A, Pras E, Arad M, Gerull B, Freimark D. Yoskovitz G, et al. Among authors: pras e. Am J Cardiol. 2012 Jun 1;109(11):1644-50. doi: 10.1016/j.amjcard.2012.01.392. Epub 2012 Apr 3. Am J Cardiol. 2012. PMID: 22475360
Titin mutation in familial restrictive cardiomyopathy.
Peled Y, Gramlich M, Yoskovitz G, Feinberg MS, Afek A, Polak-Charcon S, Pras E, Sela BA, Konen E, Weissbrod O, Geiger D, Gordon PM, Thierfelder L, Freimark D, Gerull B, Arad M. Peled Y, et al. Among authors: pras e. Int J Cardiol. 2014 Jan 15;171(1):24-30. doi: 10.1016/j.ijcard.2013.11.037. Epub 2013 Nov 25. Int J Cardiol. 2014. PMID: 24315344
Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families.
Greenbaum L, Pode-Shakked B, Eisenberg-Barzilai S, Dicastro-Keidar M, Bar-Ziv A, Goldstein N, Reznik-Wolf H, Poran H, Rigbi A, Barel O, Bertoli-Avella AM, Bauer P, Regev M, Raas-Rothschild A, Pras E, Berkenstadt M. Greenbaum L, et al. Among authors: pras e. Front Genet. 2019 Jun 25;10:425. doi: 10.3389/fgene.2019.00425. eCollection 2019. Front Genet. 2019. PMID: 31428121 Free PMC article.
Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin.
Wilf-Yarkoni A, Shor O, Fellner A, Hellmann MA, Pras E, Yonath H, Shkedi-Rafid S, Basel-Salmon L, Bazak L, Eliahou R, Greenbaum L, Stiebel-Kalish H, Benninger F, Goldberg Y. Wilf-Yarkoni A, et al. Among authors: pras e. Neurol Genet. 2021 Mar 19;7(2):e578. doi: 10.1212/NXG.0000000000000578. eCollection 2021 Apr. Neurol Genet. 2021. PMID: 33763535 Free PMC article.
300 results