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Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis.
Baris Feldman H, Chai Gadot C, Zahler D, Mory A, Aviram G, Elhanan E, Shefer G, Goldiner I, Amir Y, Kurolap A, Ablin JN. Baris Feldman H, et al. Among authors: mory a. N Engl J Med. 2023 Nov 2;389(18):1685-1692. doi: 10.1056/NEJMoa2301908. N Engl J Med. 2023. PMID: 37913506
BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control study.
Dagan E, Cohen Y, Mory A, Adir V, Borochowitz Z, Raanani H, Kurolap A, Melikhan-Revzin S, Meirow D, Gershoni-Baruch R. Dagan E, et al. Among authors: mory a. Eur J Hum Genet. 2014 Feb;22(2):277-9. doi: 10.1038/ejhg.2013.281. Epub 2013 Nov 27. Eur J Hum Genet. 2014. PMID: 24281364 Free PMC article.
Is one diagnosis the whole story? patients with double diagnoses.
Kurolap A, Orenstein N, Kedar I, Weisz Hubshman M, Tiosano D, Mory A, Levi Z, Marom D, Cohen L, Ekhilevich N, Douglas J, Nowak CB, Tan WH, Baris HN. Kurolap A, et al. Among authors: mory a. Am J Med Genet A. 2016 Sep;170(9):2338-48. doi: 10.1002/ajmg.a.37799. Epub 2016 Jun 8. Am J Med Genet A. 2016. PMID: 27271787
Loss of CD55 in Eculizumab-Responsive Protein-Losing Enteropathy.
Kurolap A, Eshach-Adiv O, Hershkovitz T, Paperna T, Mory A, Oz-Levi D, Zohar Y, Mandel H, Chezar J, Azoulay D, Peleg S, Half EE, Yahalom V, Finkel L, Weissbrod O, Geiger D, Tabib A, Shaoul R, Magen D, Bonstein L, Mevorach D, Baris HN. Kurolap A, et al. Among authors: mory a. N Engl J Med. 2017 Jul 6;377(1):87-89. doi: 10.1056/NEJMc1707173. Epub 2017 Jun 28. N Engl J Med. 2017. PMID: 28657861 No abstract available.
Establishing the role of PLVAP in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotype.
Kurolap A, Eshach-Adiv O, Gonzaga-Jauregui C, Dolnikov K, Mory A, Paperna T, Hershkovitz T, Overton JD, Kaplan M, Glaser F, Zohar Y, Shuldiner AR, Berger G, Baris HN. Kurolap A, et al. Among authors: mory a. J Med Genet. 2018 Nov;55(11):779-784. doi: 10.1136/jmedgenet-2018-105299. Epub 2018 Jun 6. J Med Genet. 2018. PMID: 29875123
Rare Disease Diagnostics: A Single-center Experience and Lessons Learnt.
Weiss K, Kurolap A, Paperna T, Mory A, Steinberg M, Hershkovitz T, Ekhilevitch N, Baris HN. Weiss K, et al. Among authors: mory a. Rambam Maimonides Med J. 2018 Jul 30;9(3):e0018. doi: 10.5041/RMMJ.10341. Rambam Maimonides Med J. 2018. PMID: 30089087 Free PMC article.
49 results