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Page 1
Hereditary orotic aciduria identified by newborn screening.
Front Genet. 2023 Mar 14;14:1135267. doi: 10.3389/fgene.2023.1135267. eCollection 2023.
Front Genet. 2023.
PMID: 36999056
Free PMC article.
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: josefsberg s.
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
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Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
Daas S, Abu Salah N, Anikster Y, Barel O, Damseh NS, Dumin E, Fattal-Valevski A, Falik-Zaccai TC, Habib C, Josefsberg S, Korman SH, Kneller K, Landau Y, Lerman-Sagie T, Mandel H, Manor Y, Moady Abdalla T, Rock R, Rostami N, Saada A, Saraf-Levy T, Shaul Lotan N, Spiegel R, Staretz-Chacham O, Tal G, Ulanovsky I, Vaisid T, Wilnai Y, Almashanu S.
Daas S, et al. Among authors: josefsberg s.
J Inherit Metab Dis. 2023 Mar;46(2):232-242. doi: 10.1002/jimd.12580. Epub 2022 Dec 20.
J Inherit Metab Dis. 2023.
PMID: 36515074
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The phenotype of 15 cases with rare 8q24.13-q24.3 deletions-A new syndrome or still an enigma?
Maya I, Kahana S, Agmon-Fishman I, Klein C, Matar R, Berger R, Josefsberg SBY, Shohat M, Marom D, Basel-Salmon L, Sagi-Dain L.
Maya I, et al. Among authors: josefsberg sby.
Am J Med Genet A. 2021 May;185(5):1461-1467. doi: 10.1002/ajmg.a.62131. Epub 2021 Feb 22.
Am J Med Genet A. 2021.
PMID: 33619900
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Microarray analysis has no additional value in fetal aberrant right subclavian artery: description of 268 pregnancies and systematic literature review.
Sagi-Dain L, Singer A, Josefsberg S, Peleg A, Lev D, Samra NN, Bar-Shira A, Zeligson S, Maya I, Ben-Shachar S.
Sagi-Dain L, et al. Among authors: josefsberg s.
Ultrasound Obstet Gynecol. 2019 Jun;53(6):810-815. doi: 10.1002/uog.20208.
Ultrasound Obstet Gynecol. 2019.
PMID: 30584678
Free article.
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Is fetal isolated double renal collecting system an indication for chromosomal microarray?
Singer A, Maya I, Frumkin A, Zeligson S, Josefsberg SBY, Berger R, Shachar SB, Sagi-Dain L.
Singer A, et al. Among authors: josefsberg sby.
J Matern Fetal Neonatal Med. 2021 Mar;34(5):696-700. doi: 10.1080/14767058.2019.1613364. Epub 2019 May 15.
J Matern Fetal Neonatal Med. 2021.
PMID: 31032679
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Management of a patient with holocarboxylase synthetase deficiency.
Van Hove JL, Josefsberg S, Freehauf C, Thomas JA, Thuy le P, Barshop BA, Woontner M, Mock DM, Chiang PW, Spector E, Meneses-Morales I, Cervantes-Roldán R, León-Del-Río A.
Van Hove JL, et al. Among authors: josefsberg s.
Mol Genet Metab. 2008 Dec;95(4):201-5. doi: 10.1016/j.ymgme.2008.09.006. Epub 2008 Oct 29.
Mol Genet Metab. 2008.
PMID: 18974016
Free PMC article.
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[The campomelic syndrome].
Grunebaum M, Josefsberg S.
Grunebaum M, et al. Among authors: josefsberg s.
Harefuah. 1976 Sep;91(5-6):127-9.
Harefuah. 1976.
PMID: 1024945
Hebrew.
No abstract available.
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