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Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.
Andrews KA, Ascher DB, Pires DEV, Barnes DR, Vialard L, Casey RT, Bradshaw N, Adlard J, Aylwin S, Brennan P, Brewer C, Cole T, Cook JA, Davidson R, Donaldson A, Fryer A, Greenhalgh L, Hodgson SV, Irving R, Lalloo F, McConachie M, McConnell VPM, Morrison PJ, Murday V, Park SM, Simpson HL, Snape K, Stewart S, Tomkins SE, Wallis Y, Izatt L, Goudie D, Lindsay RS, Perry CG, Woodward ER, Antoniou AC, Maher ER. Andrews KA, et al. Among authors: maher er. J Med Genet. 2018 Jun;55(6):384-394. doi: 10.1136/jmedgenet-2017-105127. Epub 2018 Jan 31. J Med Genet. 2018. PMID: 29386252 Free PMC article.
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.
Genetics of familial and non-familial skull base tumours.
Irving RM, Moffat DA, Maher ER. Irving RM, et al. Among authors: maher er. Clin Otolaryngol Allied Sci. 1995 Feb;20(1):5-11. doi: 10.1111/j.1365-2273.1995.tb00003.x. Clin Otolaryngol Allied Sci. 1995. PMID: 7788935 Review.
Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.
Slatter RE, Elliott M, Welham K, Carrera M, Schofield PN, Barton DE, Maher ER. Slatter RE, et al. Among authors: maher er. J Med Genet. 1994 Oct;31(10):749-53. doi: 10.1136/jmg.31.10.749. J Med Genet. 1994. PMID: 7837249 Free PMC article.
594 results