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Page 1
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: shoval y. 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: shoval y. EMBO Mol Med. 2017 Sep;9(9):1326. doi: 10.15252/emmm.201708209. EMBO Mol Med. 2017. PMID: 28864777 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: shoval y. EMBO Mol Med. 2017 Mar;9(3):319-336. doi: 10.15252/emmm.201606523. EMBO Mol Med. 2017. PMID: 28069640 Free PMC article.
Organisational challenges, volumes of oncological activity and patients' perception during the severe acute respiratory syndrome coronavirus 2 epidemic.
Zuliani S, Zampiva I, Tregnago D, Casali M, Cavaliere A, Fumagalli A, Merler S, Riva ST, Rossi A, Zacchi F, Zaninotto E, Auriemma A, Pavarana M, Soldà C, Benini L, Borghesani M, Caldart A, Casalino S, Gaule M, Kadrija D, Mongillo M, Pesoni C, Biondani P, Cingarlini S, Fiorio E, Melisi D, Parolin V, Tondulli L, Belluomini L, Zecchetto C, Avesani B, Biasi A, Bovo C, Dazzani E, Dodi A, Gelmini S, Leta LC, Lo Cascio G, Lombardo F, Lucin E, Martinelli IA, Messineo L, Moscarda V, Pafumi S, Reni A, Sartori G, Scaglione IM, Shoval Y, Sposito M, Tacconelli E, Trestini I, Zambonin V, Zanelli S, Pilotto S, Milella M. Zuliani S, et al. Among authors: shoval y. Eur J Cancer. 2020 Aug;135:159-169. doi: 10.1016/j.ejca.2020.05.029. Epub 2020 Jun 11. Eur J Cancer. 2020. PMID: 32580131 Free PMC article.
A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis.
Zivony-Elboum Y, Westbroek W, Kfir N, Savitzki D, Shoval Y, Bloom A, Rod R, Khayat M, Gross B, Samri W, Cohen H, Sonkin V, Freidman T, Geiger D, Fattal-Valevski A, Anikster Y, Waters AM, Kleta R, Falik-Zaccai TC. Zivony-Elboum Y, et al. Among authors: shoval y. J Med Genet. 2012 Jul;49(7):462-72. doi: 10.1136/jmedgenet-2012-100742. Epub 2012 Jun 20. J Med Genet. 2012. PMID: 22717650
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: shoval y. Environ Mol Mutagen. 2012 Aug;53(7):505-14. doi: 10.1002/em.21716. Epub 2012 Jul 23. Environ Mol Mutagen. 2012. PMID: 22826098
11 results