Select Publications

Conference Papers

Robertson E; Kelada L; Best S; Goranitis I; Pierce K; Grainger N; Nevin S; Macintosh R; Le Marne F; Beavins E; Sachdev R; Bye A; Palmer E, 2022, 'Too many questions, too little information: Supporting families who have a child with severe genetic epilepsy', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, AUSTRIA, Vienna, pp. 325 - 326, presented at 55th European-Society-of-Human-Genetics (ESHG) Conference, AUSTRIA, Vienna, 11 June 2022 - 14 June 2022

Palmer EE; Caroll R; Shaw M; Kumar R; Nawaz U; Minoche A; Leffler M; Murray L; Macintosh R; Wright D; Troedson C; McKenzie F; Townshend S; Ward M; Ravine A; Runke CK; Thorland EC; Hummel M; Foulds N; Pichon O; Isidor B; Le Caignec C; Bye A; Sachdev R; Kirk EP; Cowley MJ; Field M; Gecz J, 2020, 'RLIM is a candidate dosage sensitive gene for individuals with varying duplications of Xq13, intellectual disability and recognizable facial features.', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, pp. 995 - 996, http://dx.doi.org/10.26190/unsworks/28005


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