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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: tal g. 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.
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: tal g. EMBO Mol Med. 2017 Mar;9(3):319-336. doi: 10.15252/emmm.201606523. EMBO Mol Med. 2017. PMID: 28069640 Free PMC article.
Comprehensive cardiopulmonary assessment in α mannosidosis.
Nir V, Bentur L, Tal G, Gur M, Gut G, Ilivitzki A, Zucker-Toledano M, Hanna M, Toukan Y, Bar-Yoseph R. Nir V, et al. Among authors: tal g. Pediatr Pulmonol. 2020 Sep;55(9):2348-2353. doi: 10.1002/ppul.24864. Epub 2020 Jun 26. Pediatr Pulmonol. 2020. PMID: 32445542
A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes.
Hershkovitz T, Kurolap A, Tal G, Paperna T, Mory A, Staples J, Brigatti KW; Regeneron Genetics Center; Gonzaga-Jauregui C, Dumin E, Saada A, Mandel H, Baris Feldman H. Hershkovitz T, et al. Among authors: tal g. Mol Genet Metab Rep. 2020 Dec 30;26:100699. doi: 10.1016/j.ymgmr.2020.100699. eCollection 2021 Mar. Mol Genet Metab Rep. 2020. PMID: 33457206 Free PMC article.
Concomitant congenital CMV infection and inherited liver diseases.
Swed-Tobia R, Kassis I, Weiss K, Tal G, Shaoul R, Falik-Zaccai TC, Mandel H, Meir M. Swed-Tobia R, et al. Among authors: tal g. Eur J Med Genet. 2021 Aug;64(8):104249. doi: 10.1016/j.ejmg.2021.104249. Epub 2021 May 20. Eur J Med Genet. 2021. PMID: 34023521
Acute hemodialysis therapy in neonates with inborn errors of metabolism.
Eisenstein I, Pollack S, Hadash A, Eytan D, Attias O, Halberthal M, Ben-Ari J, Bar-Joseph G, Zelikovic I, Mandel H, Tal G, Magen D. Eisenstein I, et al. Among authors: tal g. Pediatr Nephrol. 2022 Nov;37(11):2725-2732. doi: 10.1007/s00467-022-05507-3. Epub 2022 Mar 3. Pediatr Nephrol. 2022. PMID: 35239033
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