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Elongin C (ELOC/TCEB1)-associated von Hippel-Lindau disease.
Andreou A, Yngvadottir B, Bassaganyas L, Clark G, Martin E, Whitworth J, Cornish AJ; Genomics England Research Consortium; Houlston RS, Rich P, Egan C, Hodgson SV, Warren AY, Snape K, Maher ER. Andreou A, et al. Among authors: maher er. Hum Mol Genet. 2022 Aug 23;31(16):2728-2737. doi: 10.1093/hmg/ddac066. Hum Mol Genet. 2022. PMID: 35323939 Free PMC article.
Von Hippel-Lindau disease.
Maher ER, Moore AT. Maher ER, et al. Br J Ophthalmol. 1992 Dec;76(12):743-5. doi: 10.1136/bjo.76.12.743. Br J Ophthalmol. 1992. PMID: 1486078 Free PMC article. Review. No abstract available.
Three cases of 16q duplication.
Maher ER, Willatt L, Cuthbert G, Chapman C, Hodgson SV. Maher ER, et al. J Med Genet. 1991 Nov;28(11):801-2. doi: 10.1136/jmg.28.11.801. J Med Genet. 1991. PMID: 1820771 Free PMC article. No abstract available.
Von Hippel-Lindau disease: a genetic study.
Maher ER, Iselius L, Yates JR, Littler M, Benjamin C, Harris R, Sampson J, Williams A, Ferguson-Smith MA, Morton N. Maher ER, et al. J Med Genet. 1991 Jul;28(7):443-7. doi: 10.1136/jmg.28.7.443. J Med Genet. 1991. PMID: 1895313 Free PMC article.
595 results