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study association count mutation locus patient genet research region mitochondrial institute health effect analysis genome-wide disease acad 9 university protein genetic ficiency table meta-analysi chromosome ndufa i activity phenotype blood p-value department result wbc count figure level activity estimate analyses variant serum genome-wide association study cohort concentration phase leigh syndrome subunit medicine fi broblasts control genomic broblast heart allele serum ua levels package netherland discovery candidate trait state cause ucsc genome browser locus +/2100 kilobases r packages grid estimate ld structure america hapmap phase ii uric acid concentrations leigh urate 01-hc identi fied flavin expression monocyte susceptibility volume epidemiology assembly wild-type wild-type acad 9
4 Most Recent Publications
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Defective NDUFA9 as a novel cause of neonatally fatal complex I disease
(Article)
van den Bosch, B.J.C. Gerards, M. Schoonderwoerd, K. Coo, I.F.M. de Smeets, H.J. Sluiter, W. Stegmann, A.P.A. Jongen, E.L.C. Hellebrekers, D.M.E.I. Oegema, R. Lambrichs, E.H. Prokisch, H. Danhauser, K. |
2012-01-01
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Multiple loci are associated with white blood cell phenotypes
(Article)
Nalls, M.A. Couper, D. Wood, A.R. Garcia, M. Gasparini, P. Liu, Y. Lumley, T. Folsom, A.R. Reiner, A.P. Gieger, C. Lagou, V. Felix, J.F. Tanaka, T. Völzke, H. Gouskova, N.A. Biffi, A. Döring, A. Völker, U. Chong, S. Wiggins, K.L. Rendon, A. Dehghan, A. Moore, M. Rooij, F.J.A. van Taylor, K.D. Wilson, J.G. Lettre, G. Hofman, A. Bis, J.C. Pirastu, N. Fox, C.S. Meisinger, C. Sambrook, J.G. Arepalli, S. Chen, M-H. Nauck, M. Prokisch, H. Stephens, J. Glazer, N.L. Cupples, L.A. Okada, Y. Takahashi, A. Kamatani, Y. Matsuda, K. Tsunoda, T. Smith, A.V. Kubo, M. Nakamura, Y. Yamamoto, K. Stumvoll, M. Tönjes, A. Prokopenko, I. Illig, T. Patel, K.V. Garner, S.F. Kuhnel, B. Toniolo, D. Mangino, M. Oostra, B.A. Thein, S.L. Coresh, J. Wichmann, H.E. Menzel, S. Lin, J. Pistis, G. Uitterlinden, A.G. Spector, T.D. Zakai, N.A. Teumer, A. Eiriksdottir, G. Gudnason, V. Bandinelli, S. Frayling, T.M. Chakravarti, A. Tikka-Kleemola, P. Melzer, D. Ouwehand, W.H. Levy, D. Yang, Q. Boerwinkle, E. Singleton, A. Hernandez, D.G. Longo, D.L. Soranzo, N. Witteman, J.C.M. Psaty, B.M. Ferrucci, L. Harris, T.B. O'Donnell, C.J. Greinacher, A. Ganesh, S.K. |
2011-06-01
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Riboflavin-responsive oxidative phosphorylation complex i deficiency caused by defective ACAD9: New function for an old gene
(Article)
Gerards, M. Bosch, B.J. van den Prokisch, H. Rötig, A. Coo, I.F.M. de Smeets, H.J. Danhauser, K. Serre, V. Weeghel, M. van Wanders, R.J.A. Nicolaes, G.A.F. Sluiter, W. Schoonderwoerd, K. Scholte, H.R. |
2011-01-01
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Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations
(Article)
Kolz, M. Johnson, T. Johansson, Å. Dimas, A.S. Aulchenko, Y.S. Beckmann, J.S. Bergmann, S. Bochud, M. Brown, M.J. Campbell, H. Connell, J. Dominiczak, A. Sanna, S. Homuth, G. Lamina, C. McCarthy, M.I. Meitinger, T. Mooser, V. Munroe, P. Nauck, M. Peden, J. Prokisch, H. Salo, P. Teumer, A. Salomaa, V. Samani, N.J. Schlessinger, D. Uda, M. Völker, U. Waeber, G. Waterworth, D. Wang-Sattler, R. Wright, A.F. Adamski, J. Vitart, V. Whitfield, J.B. Gyllensten, U. Wilson, J.F. Rudan, I. Pramstaller, P.P. Watkins, H. Doering, A. Wichmann, H.E. Spector, T.D. Peltonen, L. Perola, M. Völzke, H. Nagaraja, R. Vollenweider, P. Caulfield, M. Illig, T. Gieger, C. Mangino, M. Albrecht, E. Wallace, C. Farrall, M. |
2009-06-01
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