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X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome.
Hadar N, Schreiber R, Eskin-Schwartz M, Kristal E, Shubinsky G, Ling G, Cohen I, Geylis M, Nahum A, Yogev Y, Birk OS. Hadar N, et al. Among authors: schreiber r. Eur J Hum Genet. 2023 Oct;31(10):1101-1107. doi: 10.1038/s41431-022-01278-5. Epub 2023 Jan 4. Eur J Hum Genet. 2023. PMID: 36599939
Glomerular involvement in children with H syndrome.
David O, Geylis M, Kristal E, Ling G, Schreiber R. David O, et al. Among authors: schreiber r. Pediatr Nephrol. 2021 Mar;36(3):721-724. doi: 10.1007/s00467-020-04860-5. Epub 2021 Jan 2. Pediatr Nephrol. 2021. PMID: 33387019
Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure.
Ben-Moshe Y, Shlomovitz O, Atias-Varon D, Haskin O, Ben-Shalom E, Shasha Lavsky H, Volovelsky O, Mane S, Ben-Ruby D, Chowers G, Skorecki K, Borovitz Y, Kagan M, Mor N, Khavkin Y, Tzvi-Behr S, Pollack S, Toder MP, Geylis M, Schnapp A, Becker-Cohen R, Weissman I, Schreiber R, Davidovits M, Frishberg Y, Magen D, Barel O, Vivante A. Ben-Moshe Y, et al. Among authors: schreiber r. Kidney Int Rep. 2023 Jul 31;8(10):2126-2135. doi: 10.1016/j.ekir.2023.07.019. eCollection 2023 Oct. Kidney Int Rep. 2023. PMID: 37850020 Free PMC article.
Listeria Meningitis in an Immunocompetent Adolescent.
Hassin O, Danino D, Schreiber R, Leibovitz E, Amit N. Hassin O, et al. Among authors: schreiber r. Isr Med Assoc J. 2020 Mar;22(3):195-196. Isr Med Assoc J. 2020. PMID: 32147988 Free article. No abstract available.
1,143 results