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National Rapid Genome Sequencing in Neonatal Intensive Care.
Marom D, Mory A, Reytan-Miron S, Amir Y, Kurolap A, Cohen JG, Morhi Y, Smolkin T, Cohen L, Zangen S, Shalata A, Riskin A, Peleg A, Lavie-Nevo K, Mandel D, Chervinsky E, Fisch CF, Fleisher Sheffer V, Falik-Zaccai TC, Rips J, Shlomai NO, Friedman SE, Shporen CH, Ben-Yehoshua SJ, Simmonds A, Yaacobi RG, Bauer-Rusek S, Omari H, Weiss K, Hochwald O, Koifman A, Globus O, Batzir NA, Yaron N, Segel R, Morag I, Reish O, Eliyahu A, Leibovitch L, Schwartz ME, Abramsky R, Hochberg A, Oron A, Banne E, Portnov I, Samra NN, Singer A, Baris Feldman H. Marom D, et al. Among authors: segel r. JAMA Netw Open. 2024 Feb 5;7(2):e240146. doi: 10.1001/jamanetworkopen.2024.0146. JAMA Netw Open. 2024. PMID: 38386321 Free PMC article.
Chromosomal microarray findings in pregnancies with an isolated pelvic kidney.
Sagi-Dain L, Singer A, Frumkin A, Shalata A, Koifman A, Segel R, Benyamini L, Rienstein S, Kahyat M, Sharony R, Maya I, Ben Shachar S. Sagi-Dain L, et al. Among authors: segel r. J Perinat Med. 2018 Dec 19;47(1):30-34. doi: 10.1515/jpm-2017-0321. J Perinat Med. 2018. PMID: 29813032
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: segel r. 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
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews.
Birnbaum R, Ezer S, Lotan NS, Eilat A, Sternlicht K, Benyamini L, Reish O, Falik-Zaccai T, Ben-Gad G, Rod R, Segel R, Kim K, Burton B, Keegan CE, Wagner M, Henderson LB, Mor N, Barel O, Hirsch Y, Meiner V, Elpeleg O, Harel T, Mor-Shakad H. Birnbaum R, et al. Among authors: segel r. J Med Genet. 2024 Feb 21;61(3):289-293. doi: 10.1136/jmg-2023-109504. J Med Genet. 2024. PMID: 37833060
94 results