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Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic by Futema, M, Whittall, R, Kiley, A, Steel, L, Cooper, J, Badmus, E, Leigh, SE, Karpe, F, Neil, H, Humphries, SE
Published 2013Journal article -
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Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic. by Futema, M, Whittall, R, Kiley, A, Steel, L, Cooper, J, Badmus, E, Leigh, SE, Karpe, F, Neil, H, Humphries, SE
Published 2013Journal article -
3
Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study. by Talmud, P, Shah, S, Whittall, R, Futema, M, Howard, P, Cooper, J, Harrison, S, Li, K, Drenos, F, Karpe, F, Neil, H, Descamps, O, Langenberg, C, Lench, N, Kivimaki, M, Whittaker, J, Hingorani, A, Kumari, M, Humphries, SE
Published 2013Journal article -
4
Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations. by Futema, M, Plagnol, V, Li, K, Whittall, R, Neil, H, Seed, M, Bertolini, S, Calandra, S, Descamps, O, Graham, C, Hegele, R, Karpe, F, Durst, R, Leitersdorf, E, Lench, N, Nair, DR, Soran, H, Van Bockxmeer, F, Humphries, SE
Published 2014Journal article -
5
Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: A case-control study by Talmud, P, Shah, S, Whittall, R, Futema, M, Howard, P, Cooper, J, Harrison, S, Li, K, Drenos, F, Karpe, F, W Neil, H, Descamps, O, Langenberg, C, Langenberg, C, Lench, N, Kivimaki, M, Whittaker, J, Whittaker, J, Hingorani, A, Kumari, M, Humphries, SE, Humphries, SE
Published 2013Journal article -
6
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms by Boldt, K, van Reeuwijk, J, Lu, Q, Koutroumpas, K, Nguyen, T-MT, Texier, Y, van Beersum, SEC, Horn, N, Willer, JR, Mans, DA, Dougherty, G, Lamers, IJC, Coene, KLM, Arts, HH, Betts, MJ, Beyer, T, Bolat, E, Gloeckner, CJ, Haidari, K, Hetterschijt, L, Iaconis, D, Jenkins, D, Klose, F, Knapp, B, Latour, B, Letteboer, SJF, Marcelis, CL, Mitic, D, Morleo, M, Oud, MM, Riemersma, M, Rix, S, Terhal, PA, Toedt, G, van Dam, TJP, de Vrieze, E, Wissinger, Y, Wu, KM, Apic, G, Beales, PL, Blacque, OE, Gibson, TJ, Huynen, MA, Katsanis, N, Kremer, H, Omran, H, van Wijk, E, Wolfrum, U, Kepes, F, Davis, EE, Franco, B, Giles, RH, Ueffing, M, Russell, RB, Roepman, R, Al-Turki, S, Anderson, C, Antony, D, Barroso, I, Bentham, J, Bhattacharya, S, Carss, K, Chatterjee, K, Cirak, S, Cosgrove, C, Danecek, P, Durbin, R, Fitzpatrick, D, Floyd, J, Foley, A, Franklin, C, Futema, M, Humphries, SE, Hurles, M, Joyce, C, McCarthy, S, Mitchison, HM, Muddyman, D, Muntoni, F, O'Rahilly, S, Onoufriadis, A, Payne, F, Plagnol, V, Raymond, L, Savage, DB, Scambler, P, Schmidts, M, Schoenmakers, N, Semple, R, Serra, E, Stalker, J, van Kogelenberg, M, Vijayarangakannan, P, Walter, K, Whittall, R, Williamson, K
Published 2016Journal article