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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.
Neoadjuvant Osimertinib Followed by Sequential Definitive Radiation Therapy and/or Surgery in Stage III Epidermal Growth Factor Receptor-Mutant Non-Small Cell Lung Cancer: An Open-Label, Single-Arm, Phase 2 Study.
Peled N, Roisman LC, Levison E, Dudnik J, Chernomordikov E, Heching N, Dudnik E, Keren-Rosenberg S, Nechushtan H, Salhab A, Hershkovitz D, Tsuriel S, Hannes V, Rotem O, Lazarev I, Lichtenberg R, Granot IS, Krayim B, Shalata W, Levin D, Krutman Y, Allen AM, Blumenfeld P, Lavrenkov K, Kian W. Peled N, et al. Among authors: hershkovitz d. Int J Radiat Oncol Biol Phys. 2023 Sep 1;117(1):105-114. doi: 10.1016/j.ijrobp.2023.03.042. Epub 2023 Mar 15. Int J Radiat Oncol Biol Phys. 2023. PMID: 36925073 Clinical Trial.
Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity.
Baris HN, Barnes-Kedar I, Toledano H, Halpern M, Hershkovitz D, Lossos A, Lerer I, Peretz T, Kariv R, Cohen S, Half EE, Magal N, Drasinover V, Wimmer K, Goldberg Y, Bercovich D, Levi Z. Baris HN, et al. Among authors: hershkovitz d. Pediatr Blood Cancer. 2016 Mar;63(3):418-27. doi: 10.1002/pbc.25818. Epub 2015 Nov 6. Pediatr Blood Cancer. 2016. PMID: 26544533
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome.
Basel-Vanagaite L, Sarig O, Hershkovitz D, Fuchs-Telem D, Rapaport D, Gat A, Isman G, Shirazi I, Shohat M, Enk CD, Birk E, Kohlhase J, Matysiak-Scholze U, Maya I, Knopf C, Peffekoven A, Hennies HC, Bergman R, Horowitz M, Ishida-Yamamoto A, Sprecher E. Basel-Vanagaite L, et al. Among authors: hershkovitz d. Am J Hum Genet. 2009 Aug;85(2):254-63. doi: 10.1016/j.ajhg.2009.07.001. Epub 2009 Jul 23. Am J Hum Genet. 2009. PMID: 19631308 Free PMC article.
Postzygotic HRAS mutation causing both keratinocytic epidermal nevus and thymoma and associated with bone dysplasia and hypophosphatemia due to elevated FGF23.
Avitan-Hersh E, Tatur S, Indelman M, Gepstein V, Shreter R, Hershkovitz D, Brick R, Bergman R, Tiosano D. Avitan-Hersh E, et al. Among authors: hershkovitz d. J Clin Endocrinol Metab. 2014 Jan;99(1):E132-6. doi: 10.1210/jc.2013-2813. Epub 2013 Dec 20. J Clin Endocrinol Metab. 2014. PMID: 24243633
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