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A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity.
Falik-Zaccai TC, Erel-Segal R, Horev L, Bitterman-Deutsch O, Koka S, Chaim S, Keren Z, Kalfon L, Gross B, Segal Z, Orgal S, Shoval Y, Slor H, Spivak G, Hanawalt PC. Falik-Zaccai TC, et al. Among authors: kalfon l. Environ Mol Mutagen. 2012 Aug;53(7):505-14. doi: 10.1002/em.21716. Epub 2012 Jul 23. Environ Mol Mutagen. 2012. PMID: 22826098
Clinical utility gene card for: Xeroderma pigmentosum.
Schubert S, Lehmann J, Kalfon L, Slor H, Falik-Zaccai TC, Emmert S. Schubert S, et al. Among authors: kalfon l. Eur J Hum Genet. 2014 Jul;22(7). doi: 10.1038/ejhg.2013.233. Epub 2013 Oct 9. Eur J Hum Genet. 2014. PMID: 24105368 Free PMC article. Review. No abstract available.
Two novel mutations identified in familial cases with Donohue syndrome.
Falik Zaccai TC, Kalfon L, Klar A, Elisha MB, Hurvitz H, Weingarten G, Chechik E, Fleisher Sheffer V, Haj Yahya R, Meidan G, Gross-Kieselstein E, Bauman D, Hershkovitz S, Yaron Y, Orr-Urtreger A, Wertheimer E. Falik Zaccai TC, et al. Among authors: kalfon l. Mol Genet Genomic Med. 2014 Jan;2(1):64-72. doi: 10.1002/mgg3.43. Epub 2013 Nov 14. Mol Genet Genomic Med. 2014. PMID: 24498630 Free PMC article.
Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy.
Falik Zaccai TC, Savitzki D, Zivony-Elboum Y, Vilboux T, Fitts EC, Shoval Y, Kalfon L, Samra N, Keren Z, Gross B, Chasnyk N, Straussberg R, Mullikin JC, Teer JK, Geiger D, Kornitzer D, Bitterman-Deutsch O, Samson AO, Wakamiya M, Peterson JW, Kirtley ML, Pinchuk IV, Baze WB, Gahl WA, Kleta R, Anikster Y, Chopra AK. Falik Zaccai TC, et al. Among authors: kalfon l. Brain. 2017 Feb;140(2):370-386. doi: 10.1093/brain/aww295. Epub 2016 Dec 21. Brain. 2017. PMID: 28007986 Free PMC article.
Sequence variation in PPP1R13L results in a novel form of cardio-cutaneous syndrome.
Falik-Zaccai TC, Barsheshet Y, Mandel H, Segev M, Lorber A, Gelberg S, Kalfon L, Ben Haroush S, Shalata A, Gelernter-Yaniv L, Chaim S, Raviv Shay D, Khayat M, Werbner M, Levi I, Shoval Y, Tal G, Shalev S, Reuveni E, Avitan-Hersh E, Vlodavsky E, Appl-Sarid L, Goldsher D, Bergman R, Segal Z, Bitterman-Deutsch O, Avni O. Falik-Zaccai TC, et al. Among authors: kalfon l. EMBO Mol Med. 2017 Mar;9(3):319-336. doi: 10.15252/emmm.201606523. EMBO Mol Med. 2017. PMID: 28069640 Free PMC article.
A Puzzling "Switch" in Blood Type Following Blood Transfusion.
Akria L, Chezar J, Zisman-Rozen S, Scheinman EJ, Zonis Z, Hoffmann Y, Falik-Zaccai T, Kalfon L, Weiss M, Braester A, Suriu C, Barhoum M, Kuperman A, Shaoul E. Akria L, et al. Among authors: kalfon l. Ann Lab Med. 2017 May;37(3):293-295. doi: 10.3343/alm.2017.37.3.293. Ann Lab Med. 2017. PMID: 28224781 Free PMC article. No abstract available.
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.
Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, Bratkovic D, Derks TGJ, Bick D, Bouman K, Chatfield KC, Damouny-Naoum N, Dishop MK, Falik-Zaccai TC, Fares F, Fedida A, Ferrero I, Gallagher RC, Garesse R, Gilberti M, González C, Gowan K, Habib C, Halligan RK, Kalfon L, Knight K, Lefeber D, Mamblona L, Mandel H, Mory A, Ottoson J, Paperna T, Pruijn GJM, Rebelo-Guiomar PF, Saada A, Sainz B Jr, Salvemini H, Schoots MH, Smeitink JA, Szukszto MJ, Ter Horst HJ, van den Brandt F, van Spronsen FJ, Veltman JA, Wartchow E, Wintjes LT, Zohar Y, Fernández-Moreno MA, Baris HN, Donnini C, Minczuk M, Rodenburg RJ, Van Hove JLK. Friederich MW, et al. Among authors: kalfon l. Nat Commun. 2018 Oct 3;9(1):4065. doi: 10.1038/s41467-018-06250-w. Nat Commun. 2018. PMID: 30283131 Free PMC article.
32 results