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Meyer, Esther and Lim, Derek and Pasha, Shanaz and Tee, Louise J and Rahman, Fatima and Yates, John R.W and Woods, C. Geoffrey and Reik, Wolf and Maher, Eamonn R (2009) Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome). PloS Genetics, 5 (3). ISSN 1553-7390
Crompton, Danielle and Rehal, Pauline K and MacPherson, Lesley and Foster, Kathleen and Lunt, Peter and Hughes, Imelda and Brady, Angela F and Pike, Michael G and De Gressi, Susanna and Morgan, Neil V and Hardy, Carol and Smith, Matthew and McDonald, Fiona and Maher, Eamonn R and Kurian, Manju A (2010) Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis. Molecular Genetics and Metabolism, 100. pp. 207-212.
Astuti, D. and Ricketts, C. J. and Chowdhury, R. and McDonough, M. A. and Gentle, D. and Kirby, G. and Schlisio, S. and Kenchappa, R. S. and Carter, B. D. and Kaelin, W. G. and Ratcliffe, P. J. and Schofield, C. J. and Latif, F. and Maher, Eamonn R (2010) Mutation analysis of HIF prolyl hydroxylases (PHD/EGLN) in individuals with features of phaeochromocytoma and renal cell carcinoma susceptibility. Endocrine Related Cancer, 18 (1). p. 73. ISSN 1351-0088