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293 results

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Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder.
Westrip CAE, Paul F, Al-Murshedi F, Qaitoon H, Cham B, Fletcher SC, Hendrix E, Boora U, Ng AYJ, Bonnard C, Najafi M, Alawbathani S, Lambert I, Fox G, Venkatesh B, Bertoli-Avella A, Tan ES, Al-Maawali A, Reversade B, Coleman ML. Westrip CAE, et al. Among authors: tan es. Genet Med. 2023 Sep;25(9):100893. doi: 10.1016/j.gim.2023.100893. Epub 2023 May 11. Genet Med. 2023. PMID: 37179472 Free article.
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH, Bylstra Y, Teo JX, Kuan JL, Bertin N, Gonzalez-Porta M, Hebrard M, Tirado-Magallanes R, Tan JHJ, Jeyakani J, Li Z, Chai JF, Chong YS, Davila S, Goh LL, Lee ES, Wong E, Wong TY; SG10K_Health Consortium; Prabhakar S, Liu J, Cheng CY, Eisenhaber B, Karnani N, Leong KP, Sim X, Yeo KK, Chambers JC, Tai ES, Tan P, Jamuar SS, Ngeow J, Lim WK. Chan SH, et al. Among authors: tan p, tan jhj. Nat Commun. 2022 Nov 5;13(1):6694. doi: 10.1038/s41467-022-34116-9. Nat Commun. 2022. PMID: 36335097 Free PMC article.
Long-term safety and efficacy of taliglucerase alfa in pediatric Gaucher disease patients who were treatment-naïve or previously treated with imiglucerase.
Zimran A, Gonzalez-Rodriguez DE, Abrahamov A, Cooper PA, Varughese S, Giraldo P, Petakov M, Tan ES, Chertkoff R. Zimran A, et al. Among authors: tan es. Blood Cells Mol Dis. 2018 Feb;68:163-172. doi: 10.1016/j.bcmd.2016.10.005. Epub 2016 Oct 20. Blood Cells Mol Dis. 2018. PMID: 27839981 Free article. Clinical Trial.
A Phase 3, multicenter, open-label, switchover trial to assess the safety and efficacy of taliglucerase alfa, a plant cell-expressed recombinant human glucocerebrosidase, in adult and pediatric patients with Gaucher disease previously treated with imiglucerase.
Pastores GM, Petakov M, Giraldo P, Rosenbaum H, Szer J, Deegan PB, Amato DJ, Mengel E, Tan ES, Chertkoff R, Brill-Almon E, Zimran A. Pastores GM, et al. Among authors: tan es. Blood Cells Mol Dis. 2014 Dec;53(4):253-60. doi: 10.1016/j.bcmd.2014.05.004. Epub 2014 Jun 18. Blood Cells Mol Dis. 2014. PMID: 24950666 Clinical Trial.
Associations of Circulating Platelet Endothelial Cell Adhesion Molecule-1 Levels With Progression of Cerebral Small-Vessel Disease, Cognitive Decline, and Incident Dementia.
Sim MA, Tan ESJ, Chan SP, Cai Y, Chai YL, Chong JR, Chong EJY, Robert C, Venketasubramanian N, Tan BY, Lai MKP, Hilal S, Chen CLH. Sim MA, et al. Among authors: tan esj. J Am Heart Assoc. 2024 Nov 19;13(22):e035133. doi: 10.1161/JAHA.124.035133. Epub 2024 Nov 11. J Am Heart Assoc. 2024. PMID: 39526361 Free article.
293 results