Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

29 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine.
Kurolap A, Armbruster A, Hershkovitz T, Hauf K, Mory A, Paperna T, Hannappel E, Tal G, Nijem Y, Sella E, Mahajnah M, Ilivitzki A, Hershkovitz D, Ekhilevitch N, Mandel H, Eulenburg V, Baris HN. Kurolap A, et al. Among authors: hershkovitz t, hershkovitz d. Am J Hum Genet. 2016 Nov 3;99(5):1172-1180. doi: 10.1016/j.ajhg.2016.09.004. Epub 2016 Oct 20. Am J Hum Genet. 2016. PMID: 27773429 Free PMC article.
Impaired Wnt/Planar Cell Polarity Signaling in Yellow Nail Syndrome.
Kurolap A, Chai Gadot C, Eshach Adiv O, Hershkovitz T, Avitan-Hersh E, Martin L, Humeau H, Schatz UA, Westphal DS, Lobmaier S, Sofrin-Drucker E, Stafler P, Bugis J, Chermesh I, Hardak E, Geva P, Zohar Y, Hershkovitz D, Mory A, Chatterji S, Greenberger S, Shteinberg M, Baris Feldman H. Kurolap A, et al. Among authors: hershkovitz t. Ann Intern Med. 2025 Jan;178(1):39-49. doi: 10.7326/ANNALS-24-01101. Epub 2024 Dec 24. Ann Intern Med. 2025. PMID: 39715557
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: hershkovitz t. 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
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: hershkovitz t. 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.
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: hershkovitz t. 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.
A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4.
Hershkovitz T, Kurolap A, Gonzaga-Jauregui C, Paperna T, Mory A, Wolf SE; Regeneron Genetics Center; Overton JD, Shuldiner AR, Saada A, Mandel H, Baris Feldman H. Hershkovitz T, et al. J Hum Genet. 2019 Jun;64(6):589-595. doi: 10.1038/s10038-019-0592-6. Epub 2019 Mar 22. J Hum Genet. 2019. PMID: 30903008
29 results