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21 results

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Page 1
Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B.
Poleg T, Hadar N, Kristal E, Roberts NY, Dolgin V, Aminov I, Safran A, Agam N, Jean M, Freund O, Sheridan EG, Poulter JA, Thompson ML, Algoos Y, Al-Qahtani S, AlAbdi L, Maddirevula S, Hartill V, Houlden H, Maroofian R, Nahum A, Birk OS. Poleg T, et al. Among authors: kristal e. Mov Disord. 2025 Sep;40(9):1874-1882. doi: 10.1002/mds.30249. Epub 2025 Jun 10. Mov Disord. 2025. PMID: 40492975 Free PMC article.
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.
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
The natural history of dihydrolipoamide dehydrogenase deficiency in Israel.
Pode-Shakked B, Landau YE, Shaul Lotan N, Manor J, Haham N, Kristal E, Hershkovitz E, Hazan G, Haham Y, Almashanu S, Anikster Y, Staretz-Chacham O. Pode-Shakked B, et al. Among authors: kristal e. J Inherit Metab Dis. 2024 Sep;47(5):895-902. doi: 10.1002/jimd.12778. Epub 2024 Jul 23. J Inherit Metab Dis. 2024. PMID: 39040027
21 results