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Meyer, Esther and Kurian, Manju A. and Pasha, Shanaz and Trembath, Richard C. and Cole, Trevor and Maher, Eamonn R. (2010) A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption. Molecular Genetics and Metabolism, 99 (3). p. 325. ISSN 10967192
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