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2021 | 1 |
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Page 1
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.
Genome Med. 2021 Apr 12;13(1):55. doi: 10.1186/s13073-021-00873-3.
Genome Med. 2021.
PMID: 33845882
Free PMC article.
Carrier screening for Krabbe disease in an isolated inbred community.
Ezer S, Zuckerman S, Segel R, Zlotogora J.
Ezer S, et al.
Am J Med Genet A. 2022 Sep;188(9):2555-2559. doi: 10.1002/ajmg.a.62882. Epub 2022 Jul 1.
Am J Med Genet A. 2022.
PMID: 35775617
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Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity.
Ezer S, Daana M, Park JH, Yanovsky-Dagan S, Nordström U, Basal A, Edvardson S, Saada A, Otto M, Meiner V, Marklund SL, Andersen PM, Harel T.
Ezer S, et al.
Brain. 2022 Apr 29;145(3):872-878. doi: 10.1093/brain/awab416.
Brain. 2022.
PMID: 34788402
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Spironolactone inhibits the growth of cancer stem cells by impairing DNA damage response.
Gold A, Eini L, Nissim-Rafinia M, Viner R, Ezer S, Erez K, Aqaqe N, Hanania R, Milyavsky M, Meshorer E, Goldberg M.
Gold A, et al. Among authors: ezer s.
Oncogene. 2019 Apr;38(17):3103-3118. doi: 10.1038/s41388-018-0654-9. Epub 2019 Jan 8.
Oncogene. 2019.
PMID: 30622338
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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: ezer s.
J Med Genet. 2024 Feb 21;61(3):289-293. doi: 10.1136/jmg-2023-109504.
J Med Genet. 2024.
PMID: 37833060
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