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Role Deputy Head Biochemical Genetics
Group Biochemical Genetics

Top Publications

  • Kiss, S, Hong, KM, Sadowsky, J, Greaves, RF, Yaplito-Lee, J. VERY LONG‐CHAIN ACYL‐COA DEHYDROGENASE DEFICIENCY: CASE REPORT OF HYPOGLYCAEMIA AND RHABDOMYOLYSIS IN A 2‐DAY‐OLD INFANT. Journal of Paediatrics and Child Health 56(12) : 1996 -1997 2020
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  • Woollard, G, McWhinney, B, Greaves, RF, Punyalack, W. Total pathway to method validation. Clinical Chemistry and Laboratory Medicine 58(11) : e257 -e261 2020
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  • Loh, TP, Ho, CS, Hartmann, MF, Zakaria, R, Lo, CWS, van den Berg, S, de Rijke, YB, Cooke, BR, Hoad, K, Graham, P, et al. Influence of isotopically labeled internal standards on quantification of serum/plasma 17α-hydroxyprogesterone (17OHP) by liquid chromatography mass spectrometry. Clinical Chemistry and Laboratory Medicine 58(10) : 1731 -1739 2020
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  • Johannsen, TH, Andersson, A-M, Ahmed, SF, de Rijke, YB, Greaves, RF, Hartmann, MF, Hiort, O, Holterhus, P-M, Krone, NP, Kulle, A, et al. Peptide hormone analysis in diagnosis and treatment of Differences of Sex Development: joint position paper of EU COST Action ‘DSDnet’ and European Reference Network on Rare Endocrine Conditions. European Journal of Endocrinology 182(6) : p1 -p15 2020
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  • Zakaria, R, Allen, KJ, Koplin, JJ, Roche, P, Greaves, RF. Candidate reference method for determination of vitamin D from dried blood spot samples. Clinical Chemistry and Laboratory Medicine 58(5) : 817 -827 2020
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