Molecular Genetics and Metabolism, 1096-7192

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  1. 2017
  2. Hospitalizations for mitochondrial disease across the lifespan in the U.S

    McCormack, S. E., Xiao, R., Kilbaugh, T. J., Michael Karlsson, Ganetzky, R. D., Cunningham, Z. Z., Goldstein, A., Falk, M. J. & Damrauer, S. M. 2017 Feb 1 In : Molecular Genetics and Metabolism.

    Research output: Contribution to journalArticle

  3. 2016
  4. Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues

    Desnick, R. J., Barton, N. W., Furbish, S., Grabowski, G. A., Stefan Karlsson, Kolodny, E. H., Medin, J. A., Murray, G. J., Mistry, P. K., Patterson, M. C., Schiffmann, R. & Weinreb, N. J. 2016 Oct 17 In : Molecular Genetics and Metabolism.

    Research output: Contribution to journalArticle

  5. 2011
  6. A common variant near the PRL gene is associated with increased adiposity in males

    Nilsson, L., Olsson, A. H., Isomaa, B., Leif Groop, Billig, H. & Charlotte Ling 2011 In : Molecular Genetics and Metabolism. 102, 1, p. 78-81

    Research output: Contribution to journalArticle

  7. 2009
  8. Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndrome

    Mkaouar-Rebai, E., Imen Chamkha, Kammoun, F., Kammoun, T., Aloulou, H., Hachicha, M., Triki, C. & Fakhfakh, F. 2009 Jul In : Molecular Genetics and Metabolism. 97, 3, p. 179-84 6 p.

    Research output: Contribution to journalArticle

  9. Recommendations on the diagnosis and management of Niemann-Pick disease type C

    Wraith, J. E., Baumgartner, M. R., Bembi, B., Covanis, A., Levade, T., Mengel, E., Pineda, M., Sedel, F., Topcu, M., Vanier, M. T., Håkan Widner, Wijburg, F. A. & Patterson, M. C. 2009 In : Molecular Genetics and Metabolism. 98, 1-2, p. 152-165

    Research output: Contribution to journalDebate/Note/Editorial

  10. 2008
  11. A non-synonymous variant in SLC30A8 is not associated with type 1 diabetes in the Danish population

    Brorsson, C., Bergholdt, R., Marketa Sjögren, Eising, S., Sorensen, K. M., Hougaard, D. M., Marju Orho-Melander, Leif Groop & Pociot, F. 2008 In : Molecular Genetics and Metabolism. 94, 3, p. 386-388

    Research output: Contribution to journalArticle

  12. 2006
  13. Association of the calpain-10 gene with type 2 diabetes in Europeans: Results of pooled and meta-analyses

    Orho-Melander, M. , Groop, L. & 30 others Tsuchiya, T., Schwarz, P. E. H., del Bosque-Plata, L., Hayes, M. G., Dina, C., Froguel, P., Towers, G. W., Fischer, S., Temelkova-Kurktschiev, T., Rietzsch, H., Graessler, J., Vcelak, J., Palyzova, D., Selisko, T., Bendlova, B., Schulze, J., Julius, U., Hanefeld, M., Weedon, M. N., Evans, J. C., Frayling, T. M., Hattersley, A. T., Malecki, M. T., Hansen, T., Pedersen, O., Fingerlin, T. E., Boehnke, M., Hanis, C. L., Cox, N. J. & Bell, G. I. 2006 In : Molecular Genetics and Metabolism. 89, 1-2, p. 174-184

    Research output: Contribution to journalArticle

  14. Comparison of plasma and urinary levels of 2-hydroxyestrogen and 16 alpha-hydroxyestrogen metabolites

    Bradlow, H. L., Helena Jernström, Sepkovic, D. W., Klug, T. L. & Narod, S. A. 2006 In : Molecular Genetics and Metabolism. 87, 2, p. 135-146

    Research output: Contribution to journalArticle

  15. 2005
  16. Crohn's disease associated CARD15 (NOD2) variants are not involved in the susceptibility to type 1 diabetes

    Ghandil, P., Chelala, C., Dubois-Laforgue, D., Senee, V., Caillat-Zucman, S., Kockum, I., Holger Luthman, Nerup, J., Pociot, F., Timsit, J. & Julier, C. 2005 In : Molecular Genetics and Metabolism. 86, 3, p. 379-383

    Research output: Contribution to journalArticle

  17. 2001
  18. CYP gene polymorphisms and early menarche

    Lai, J., Vesprini, D., Chu, W., Helena Jernström & Narod, S. A. 2001 In : Molecular Genetics and Metabolism. 74, 4, p. 449-457

    Research output: Contribution to journalArticle

  19. Genetic factors related to racial variation in plasma levels of insulin-like growth factor-1: implications for premenopausal breast cancer risk

    Helena Jernström, Chu, W., Vesprini, D., Tao, Y., Majeed, N., Deal, C., Pollak, M. & Narod, S. A. 2001 In : Molecular Genetics and Metabolism. 72, 2, p. 144-154

    Research output: Contribution to journalArticle