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Page 1
Glomerular involvement in children with H syndrome.
David O, Geylis M, Kristal E, Ling G, Schreiber R. David O, et al. Among authors: kristal e. Pediatr Nephrol. 2021 Mar;36(3):721-724. doi: 10.1007/s00467-020-04860-5. Epub 2021 Jan 2. Pediatr Nephrol. 2021. PMID: 33387019
Hyper IgM in tricho-hepato-enteric syndrome due to TTC37 mutation.
Kristal E, Nahum A, Ling G, Broides A, Shubinsky G, Eskin-Schwartz M, Hadar N, Progador O, Birk O. Kristal E, et al. Immunol Res. 2022 Dec;70(6):775-780. doi: 10.1007/s12026-022-09305-9. Epub 2022 Jul 1. Immunol Res. 2022. PMID: 35776314
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: kristal e. 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 Free PMC article.
Loss of function of ENT3 drives histiocytosis and inflammation through TLR-MAPK signaling.
Shiloh R, Lubin R, David O, Geron I, Okon E, Hazan I, Zaliova M, Amarilyo G, Birger Y, Borovitz Y, Brik D, Broides A, Cohen-Kedar S, Harel L, Kristal E, Kozlova D, Ling G, Shapira Rootman M, Shefer Averbuch N, Spielman S, Trka J, Izraeli S, Yona S, Elitzur S. Shiloh R, et al. Among authors: kristal e. Blood. 2023 Nov 16;142(20):1740-1751. doi: 10.1182/blood.2023020714. Blood. 2023. PMID: 37738562 Free article.
18 results