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Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.
Kocak H, Ballew BJ, Bisht K, Eggebeen R, Hicks BD, Suman S, O'Neil A, Giri N; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group; Maillard I, Alter BP, Keegan CE, Nandakumar J, Savage SA. Kocak H, et al. Genes Dev. 2014 Oct 1;28(19):2090-102. doi: 10.1101/gad.248567.114. Epub 2014 Sep 18. Genes Dev. 2014. PMID: 25233904 Free PMC article.
A New Biomarker Copeptin in Determining Disease Severity in COVID-19.
Korkmaz P, Mıstanoğlu-Özatağ D, Keskin H, Koçak H, Uçar S. Korkmaz P, et al. Among authors: kocak h. Infect Dis Clin Microbiol. 2024 Sep 26;6(3):225-232. doi: 10.36519/idcm.2024.324. eCollection 2024 Sep. Infect Dis Clin Microbiol. 2024. PMID: 39403104 Free PMC article.
270 results