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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.
Acute Normoglycemic Ketoacidosis.
Dumin E, Idin A, Korman SH, Tal G. Dumin E, et al. Among authors: tal g. Clin Chem. 2019 Dec;65(12):1610-1612. doi: 10.1373/clinchem.2019.309062. Clin Chem. 2019. PMID: 31776163 No abstract available.
The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
Staretz-Chacham O, Daas S, Ulanovsky I, Blau A, Rostami N, Saraf-Levy T, Abu Salah N, Anikster Y, Banne E, Dar D, Dumin E, Fattal-Valevski A, Falik-Zaccai T, Hershkovitz E, Josefsberg S, Khammash H, Keidar R, Korman SH, Landau Y, Lerman-Sagie T, Mandel D, Mandel H, Marom R, Morag I, Nadir E, Yosha-Orpaz N, Pode-Shakked B, Pras E, Reznik-Wolf H, Saada A, Segel R, Shaag A, Shaul Lotan N, Spiegel R, Tal G, Vaisid T, Zeharia A, Almashanu S. Staretz-Chacham O, et al. Among authors: tal g. J Inherit Metab Dis. 2021 May;44(3):606-617. doi: 10.1002/jimd.12331. Epub 2020 Nov 30. J Inherit Metab Dis. 2021. PMID: 33190319
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.
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