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69 results

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PSMC1 variant causes a novel neurological syndrome.
Aharoni S, Proskorovski-Ohayon R, Krishnan RK, Yogev Y, Wormser O, Hadar N, Bakhrat A, Alshafee I, Gombosh M, Agam N, Gradstein L, Shorer Z, Zarivach R, Eskin-Schwartz M, Abdu U, Birk OS. Aharoni S, et al. Clin Genet. 2022 Oct;102(4):324-332. doi: 10.1111/cge.14195. Epub 2022 Aug 3. Clin Genet. 2022. PMID: 35861243 Free PMC article.
ZNF142 mutation causes sex-dependent neurologic disorder.
Proskorovski-Ohayon R, Eskin-Schwartz M, Shorer Z, Kadir R, Halperin D, Drabkin M, Yogev Y, Aharoni S, Hadar N, Cohen H, Eremenko E, Perez Y, Birk OS. Proskorovski-Ohayon R, et al. Among authors: aharoni s. J Med Genet. 2024 May 21;61(6):566-577. doi: 10.1136/jmg-2023-109447. J Med Genet. 2024. PMID: 38296634
Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation.
Safran A, Proskorovski-Ohayon R, Eskin-Schwartz M, Yogev Y, Drabkin M, Eremenko E, Aharoni S, Freund O, Jean MM, Agam N, Hadar N, Loewenthal N, Staretz-Chacham O, Birk OS. Safran A, et al. Among authors: aharoni s. J Inherit Metab Dis. 2023 Jul;46(4):744-755. doi: 10.1002/jimd.12594. Epub 2023 Feb 9. J Inherit Metab Dis. 2023. PMID: 36695547
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19.
Hadar N, Dolgin V, Oustinov K, Yogev Y, Poleg T, Safran A, Freund O, Agam N, Jean MM, Proskorovski-Ohayon R, Wormser O, Drabkin M, Halperin D, Eskin-Schwartz M, Narkis G, Sued-Hendrickson S, Aminov I, Gombosh M, Aharoni S, Birk OS. Hadar N, et al. Among authors: aharoni s. Hum Genet. 2024 May;143(5):695-701. doi: 10.1007/s00439-024-02671-4. Epub 2024 Apr 12. Hum Genet. 2024. PMID: 38607411
Factual observations of dynamic bone crushing.
Aharoni S, Rittel D, Shemtov-Yona K. Aharoni S, et al. Sci Rep. 2024 Oct 27;14(1):25597. doi: 10.1038/s41598-024-77717-8. Sci Rep. 2024. PMID: 39462125 Free PMC article.
Contrast enhanced photoacoustic detection of fibrillar collagen in the near infrared region-I.
Solomonov I, Locatelli I, Tortorella S, Unni M, Aharoni SL, Alchera E, Locatelli E, Maturi M, Venegoni C, Lucianò R, Salonia A, Corti A, Curnis F, Grasso V, Malamal G, Jose J, Comes Franchini M, Sagi I, Alfano M. Solomonov I, et al. Among authors: aharoni sl. Nanoscale Adv. 2024 Jun 7;6(14):3655-3667. doi: 10.1039/d4na00204k. eCollection 2024 Jul 9. Nanoscale Adv. 2024. PMID: 38989511 Free PMC article.
69 results