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Hereditary orotic aciduria identified by newborn screening.
Staretz-Chacham O, Damseh NS, Daas S, Abu Salah N, Anikster Y, Barel O, Dumin E, Fattal-Valevski A, Falik-Zaccai TC, Hershkovitz E, Josefsberg S, Landau Y, Lerman-Sagie T, Mandel H, Rock R, Rostami N, Saraf-Levy T, Shaul Lotan N, Spiegel R, Tal G, Ulanovsky I, Wilnai Y, Korman SH, Almashanu S. Staretz-Chacham O, et al. Among authors: falik zaccai tc. Front Genet. 2023 Mar 14;14:1135267. doi: 10.3389/fgene.2023.1135267. eCollection 2023. Front Genet. 2023. PMID: 36999056 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. 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
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. EMBO Mol Med. 2017 Mar;9(3):319-336. doi: 10.15252/emmm.201606523. EMBO Mol Med. 2017. PMID: 28069640 Free PMC article.
70 results