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Laryngo-Onycho-Cutaneous Syndrome (LOCS).
Hemani F, Khurram U, Naveed A. Hemani F, et al. Pak J Med Sci. 2024 Jan;40(2ICON Suppl):S100-S102. doi: 10.12669/pjms.40.2(ICON).9035. Pak J Med Sci. 2024. PMID: 38328664 Free PMC article.
A Multicentric, Retrospective, Real-world Study on Immune-related Adverse Events in Patients with Advanced Non-small Cell Lung Cancers Treated with Pembrolizumab Monotherapy.
Lerner A, Lee AJX, Yan H, Van Griethuysen J, Bartlett AD, Veli M, Jiang Y, Luong M, Naban N, Kane C, Conibear J, Papadatos-Pastos D, Ahmad T, Chao D, Anand G, Asghar US. Lerner A, et al. Clin Oncol (R Coll Radiol). 2024 Mar;36(3):193-199. doi: 10.1016/j.clon.2024.01.009. Epub 2024 Jan 16. Clin Oncol (R Coll Radiol). 2024. PMID: 38246850
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
Duan R, Marafi D, Xia ZJ, Ng BG, Maroofian R, Sumya FT, Saad AK, Du H, Fatih JM, Hunter JV, Elbendary HM, Baig SM, Abdullah U, Ali Z, Efthymiou S, Murphy D, Mitani T, Withers MA, Jhangiani SN, Coban-Akdemir Z, Calame DG, Pehlivan D, Gibbs RA, Posey JE, Houlden H, Lupashin VV, Zaki MS, Freeze HH, Lupski JR. Duan R, et al. J Inherit Metab Dis. 2023 Nov;46(6):1195-1205. doi: 10.1002/jimd.12679. Epub 2023 Oct 5. J Inherit Metab Dis. 2023. PMID: 37711075
167 results