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Hundreds of variant...
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
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Lango Allen, Hana (author)
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Estrada, Karol (author)
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Lettre, Guillaume (author)
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show more...
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Berndt, Sonja I (author)
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Weedon, Michael N (author)
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Rivadeneira, Fernando (author)
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Willer, Cristen J (author)
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Jackson, Anne U (author)
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Vedantam, Sailaja (author)
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Raychaudhuri, Soumya (author)
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Ferreira, Teresa (author)
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Wood, Andrew R (author)
-
Weyant, Robert J (author)
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Segrè, Ayellet V (author)
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Speliotes, Elizabeth K (author)
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Wheeler, Eleanor (author)
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Soranzo, Nicole (author)
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Park, Ju-Hyun (author)
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Yang, Jian (author)
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Gudbjartsson, Daniel (author)
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Heard-Costa, Nancy L (author)
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Randall, Joshua C (author)
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Qi, Lu (author)
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Vernon Smith, Albert (author)
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Mägi, Reedik (author)
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Pastinen, Tomi (author)
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Liang, Liming (author)
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Heid, Iris M (author)
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Luan, Jian'an (author)
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Thorleifsson, Gudmar (author)
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Winkler, Thomas W (author)
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Goddard, Michael E (author)
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Sin Lo, Ken (author)
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Palmer, Cameron (author)
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Workalemahu, Tsegaselassie (author)
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Aulchenko, Yurii S (author)
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- Johansson, Åsa (author)
- Uppsala universitet,Institutionen för genetik och patologi
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Zillikens, M Carola (author)
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Feitosa, Mary F (author)
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Esko, Tõnu (author)
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Johnson, Toby (author)
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Ketkar, Shamika (author)
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Kraft, Peter (author)
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Mangino, Massimo (author)
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Prokopenko, Inga (author)
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Absher, Devin (author)
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Albrecht, Eva (author)
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Ernst, Florian (author)
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Glazer, Nicole L (author)
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Hayward, Caroline (author)
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Hottenga, Jouke-Jan (author)
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Jacobs, Kevin B (author)
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Knowles, Joshua W (author)
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Kutalik, Zoltan (author)
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Monda, Keri L (author)
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Polasek, Ozren (author)
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Preuss, Michael (author)
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Rayner, Nigel W (author)
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Robertson, Neil R (author)
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Steinthorsdottir, Valgerdur (author)
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Tyrer, Jonathan P (author)
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Voight, Benjamin F (author)
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- Wiklund, Fredrik (author)
- Karolinska Institutet
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Xu, Jianfeng (author)
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Hua Zhao, Jing (author)
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Nyholt, Dale R (author)
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Pellikka, Niina (author)
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Perola, Markus (author)
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Perry, John R B (author)
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Surakka, Ida (author)
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Tammesoo, Mari-Liis (author)
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Altmaier, Elizabeth L (author)
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Amin, Najaf (author)
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Aspelund, Thor (author)
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Bhangale, Tushar (author)
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Boucher, Gabrielle (author)
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Chasman, Daniel I (author)
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Chen, Constance (author)
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Coin, Lachlan (author)
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Cooper, Matthew N (author)
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Dixon, Anna L (author)
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Gibson, Quince (author)
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Grundberg, Elin (author)
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Hao, Ke (author)
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Juhani Junttila, M (author)
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Kaplan, Lee M (author)
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Kettunen, Johannes (author)
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König, Inke R (author)
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Kwan, Tony (author)
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Lawrence, Robert W (author)
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Levinson, Douglas F (author)
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- Lorentzon, Mattias, 1970 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för invärtesmedicin,Institute of Medicine, Department of Internal Medicine
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McKnight, Barbara (author)
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Morris, Andrew P (author)
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Muller, Martina (author)
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Suh Ngwa, Julius (author)
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Purcell, Shaun (author)
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Rafelt, Suzanne (author)
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Salem, Rany M (author)
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Salvi, Erika (author)
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Sanna, Serena (author)
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Shi, Jianxin (author)
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Sovio, Ulla (author)
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Thompson, John R (author)
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Turchin, Michael C (author)
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- Vandenput, Liesbeth, 1974 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för invärtesmedicin,Institute of Medicine, Department of Internal Medicine
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Verlaan, Dominique J (author)
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Vitart, Veronique (author)
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White, Charles C (author)
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Ziegler, Andreas (author)
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- Almgren, Peter (author)
- Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups
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Balmforth, Anthony J (author)
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Campbell, Harry (author)
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Citterio, Lorena (author)
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De Grandi, Alessandro (author)
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Dominiczak, Anna (author)
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Duan, Jubao (author)
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Elliott, Paul (author)
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Elosua, Roberto (author)
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Eriksson, Johan G (author)
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Freimer, Nelson B (author)
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Geus, Eco J C (author)
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Glorioso, Nicola (author)
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Haiqing, Shen (author)
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Hartikainen, Anna-Liisa (author)
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Havulinna, Aki S (author)
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Hicks, Andrew A (author)
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Hui, Jennie (author)
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- Igl, Wilmar (author)
- Uppsala universitet,Institutionen för genetik och patologi
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Illig, Thomas (author)
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Jula, Antti (author)
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Kajantie, Eero (author)
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Kilpeläinen, Tuomas O (author)
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Koiranen, Markku (author)
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Kolcic, Ivana (author)
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Koskinen, Seppo (author)
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Kovacs, Peter (author)
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Laitinen, Jaana (author)
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Liu, Jianjun (author)
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Lokki, Marja-Liisa (author)
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Marusic, Ana (author)
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Maschio, Andrea (author)
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Meitinger, Thomas (author)
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Mulas, Antonella (author)
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Paré, Guillaume (author)
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Parker, Alex N (author)
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Peden, John F (author)
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Petersmann, Astrid (author)
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Pichler, Irene (author)
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- Pietiläinen, Kirsi H (author)
- Karolinska Institutet
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Pouta, Anneli (author)
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Ridderstråle, Martin (author)
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Rotter, Jerome I (author)
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Sambrook, Jennifer G (author)
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Sanders, Alan R (author)
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Oliver Schmidt, Carsten (author)
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Sinisalo, Juha (author)
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Smit, Jan H (author)
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Stringham, Heather M (author)
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Bragi Walters, G (author)
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Widen, Elisabeth (author)
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Wild, Sarah H (author)
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Willemsen, Gonneke (author)
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Zagato, Laura (author)
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Zgaga, Lina (author)
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Zitting, Paavo (author)
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Alavere, Helene (author)
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Farrall, Martin (author)
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McArdle, Wendy L (author)
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Nelis, Mari (author)
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Peters, Marjolein J (author)
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Ripatti, Samuli (author)
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van Meurs, Joyce B J (author)
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Aben, Katja K (author)
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Ardlie, Kristin G (author)
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Beckmann, Jacques S (author)
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Beilby, John P (author)
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Bergman, Richard N (author)
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Bergmann, Sven (author)
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Collins, Francis S (author)
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Cusi, Daniele (author)
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den Heijer, Martin (author)
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Eiriksdottir, Gudny (author)
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Gejman, Pablo V (author)
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Hall, Alistair S (author)
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- Hamsten, Anders (author)
- Karolinska Institutet
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Huikuri, Heikki V (author)
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Iribarren, Carlos (author)
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Kähönen, Mika (author)
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Kaprio, Jaakko (author)
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Kathiresan, Sekar (author)
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Kiemeney, Lambertus (author)
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Kocher, Thomas (author)
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Launer, Lenore J (author)
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Lehtimäki, Terho (author)
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Melander, Olle (author)
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Mosley, Tom H (author)
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Musk, Arthur W (author)
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Nieminen, Markku S (author)
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O'Donnell, Christopher J (author)
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- Ohlsson, Claes, 1965 (author)
- Gothenburg University,Göteborgs universitet,Centre for Bone and Arthritis Research,Institutionen för medicin, avdelningen för invärtesmedicin,Institute of Medicine, Department of Internal Medicine
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Oostra, Ben (author)
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Palmer, Lyle J (author)
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Raitakari, Olli (author)
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Ridker, Paul M (author)
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Rioux, John D (author)
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Rissanen, Aila (author)
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Rivolta, Carlo (author)
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Schunkert, Heribert (author)
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Shuldiner, Alan R (author)
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Siscovick, David S (author)
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Stumvoll, Michael (author)
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Tönjes, Anke (author)
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Tuomilehto, Jaakko (author)
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van Ommen, Gert-Jan (author)
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Viikari, Jorma (author)
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Heath, Andrew C (author)
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Martin, Nicholas G (author)
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Montgomery, Grant W (author)
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Province, Michael A (author)
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Kayser, Manfred (author)
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Arnold, Alice M (author)
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Atwood, Larry D (author)
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Boerwinkle, Eric (author)
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Chanock, Stephen J (author)
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Deloukas, Panos (author)
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Gieger, Christian (author)
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- Grönberg, Henrik (author)
- Karolinska Institutet
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Hall, Per (author)
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Hattersley, Andrew T (author)
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Hengstenberg, Christian (author)
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Hoffman, Wolfgang (author)
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Mark Lathrop, G (author)
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Salomaa, Veikko (author)
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Schreiber, Stefan (author)
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Uda, Manuela (author)
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Waterworth, Dawn (author)
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Wright, Alan F (author)
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Assimes, Themistocles L (author)
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Barroso, Ines (author)
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Hofman, Albert (author)
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Mohlke, Karen L (author)
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Boomsma, Dorret I (author)
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Caulfield, Mark J (author)
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Adrienne Cupples, L (author)
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Erdmann, Jeanette (author)
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Fox, Caroline S (author)
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Gudnason, Vilmundur (author)
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- Gyllensten, Ulf (author)
- Uppsala universitet,Institutionen för genetik och patologi
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Harris, Tamara B (author)
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Hayes, Richard B (author)
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Jarvelin, Marjo-Riitta (author)
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Mooser, Vincent (author)
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Munroe, Patricia B (author)
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Ouwehand, Willem H (author)
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Penninx, Brenda W (author)
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Pramstaller, Peter P (author)
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Quertermous, Thomas (author)
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Rudan, Igor (author)
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Samani, Nilesh J (author)
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Spector, Timothy D (author)
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Völzke, Henry (author)
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Watkins, Hugh (author)
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Wilson, James F (author)
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- Groop, Leif (author)
- Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups
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Haritunians, Talin (author)
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Hu, Frank B (author)
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Kaplan, Robert C (author)
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Metspalu, Andres (author)
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North, Kari E (author)
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Schlessinger, David (author)
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Wareham, Nicholas J (author)
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Hunter, David J (author)
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O'Connell, Jeffrey R (author)
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Strachan, David P (author)
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Wichmann, H-Erich (author)
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Borecki, Ingrid B (author)
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van Duijn, Cornelia M (author)
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Schadt, Eric E (author)
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Thorsteinsdottir, Unnur (author)
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Peltonen, Leena (author)
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Uitterlinden, Andre G (author)
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Visscher, Peter M (author)
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Chatterjee, Nilanjan (author)
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Loos, Ruth J F (author)
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Boehnke, Michael (author)
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McCarthy, Mark I (author)
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- Ingelsson, Erik (author)
- Karolinska Institutet
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Lindgren, Cecilia M (author)
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Abecasis, Gonçalo R (author)
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Stefansson, Kari (author)
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Frayling, Timothy M (author)
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Hirschhorn, Joel N (author)
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(creator_code:org_t)
- 2010-09-29
- 2010
- English.
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In: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 467:7317, s. 832-8
- Related links:
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https://europepmc.or...
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http://dx.doi.org/10...
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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https://lup.lub.lu.s...
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http://kipublication...
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https://urn.kb.se/re...
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Abstract
Subject headings
Close
- Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways (P = 0.016) and that underlie skeletal growth defects (P<0.001). Second, the likely causal gene is often located near the most strongly associated variant: in 13 of 21 loci containing a known skeletal growth gene, that gene was closest to the associated variant. Third, at least 19 loci have multiple independently associated variants, suggesting that allelic heterogeneity is a frequent feature of polygenic traits, that comprehensive explorations of already-discovered loci should discover additional variants and that an appreciable fraction of associated loci may have been identified. Fourth, associated variants are enriched for likely functional effects on genes, being over-represented among variants that alter amino-acid structure of proteins and expression levels of nearby genes. Our data explain approximately 10% of the phenotypic variation in height, and we estimate that unidentified common variants of similar effect sizes would increase this figure to approximately 16% of phenotypic variation (approximately 20% of heritable variation). Although additional approaches are needed to dissect the genetic architecture of polygenic human traits fully, our findings indicate that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
Keyword
- Body Height
- genetics
- Chromosomes
- Human
- Pair 3
- genetics
- Genetic Loci
- genetics
- Genetic Predisposition to Disease
- genetics
- Genome
- Human
- genetics
- Genome-Wide Association Study
- Humans
- Metabolic Networks and Pathways
- genetics
- Multifactorial Inheritance
- genetics
- Phenotype
- Polymorphism
- Single Nucleotide
- genetics
- MEDICINE
- NATURAL SCIENCES
Publication and Content Type
- ref (subject category)
- art (subject category)
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Lango Allen, Han ...
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Estrada, Karol
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Lettre, Guillaum ...
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Berndt, Sonja I
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Weedon, Michael ...
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Rivadeneira, Fer ...
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show more...
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Willer, Cristen ...
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Jackson, Anne U
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Vedantam, Sailaj ...
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Raychaudhuri, So ...
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Ferreira, Teresa
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Wood, Andrew R
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Weyant, Robert J
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Segrè, Ayellet V
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Speliotes, Eliza ...
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Wheeler, Eleanor
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Soranzo, Nicole
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Park, Ju-Hyun
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Yang, Jian
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Gudbjartsson, Da ...
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Heard-Costa, Nan ...
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Randall, Joshua ...
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Qi, Lu
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Vernon Smith, Al ...
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Mägi, Reedik
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Pastinen, Tomi
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Liang, Liming
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Heid, Iris M
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Luan, Jian'an
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Thorleifsson, Gu ...
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Winkler, Thomas ...
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Goddard, Michael ...
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Sin Lo, Ken
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Palmer, Cameron
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Workalemahu, Tse ...
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Aulchenko, Yurii ...
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Johansson, Åsa
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Zillikens, M Car ...
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Feitosa, Mary F
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Esko, Tõnu
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Johnson, Toby
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Ketkar, Shamika
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Kraft, Peter
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Mangino, Massimo
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Prokopenko, Inga
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Absher, Devin
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Albrecht, Eva
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Ernst, Florian
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Glazer, Nicole L
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Hayward, Carolin ...
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Hottenga, Jouke- ...
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Jacobs, Kevin B
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Knowles, Joshua ...
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Kutalik, Zoltan
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Monda, Keri L
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Polasek, Ozren
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Preuss, Michael
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Rayner, Nigel W
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Robertson, Neil ...
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Steinthorsdottir ...
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Tyrer, Jonathan ...
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Voight, Benjamin ...
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Wiklund, Fredrik
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Xu, Jianfeng
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Hua Zhao, Jing
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Nyholt, Dale R
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Pellikka, Niina
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Perola, Markus
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Perry, John R B
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Surakka, Ida
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Tammesoo, Mari-L ...
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Altmaier, Elizab ...
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Amin, Najaf
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Aspelund, Thor
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Bhangale, Tushar
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Boucher, Gabriel ...
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Chasman, Daniel ...
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Chen, Constance
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Coin, Lachlan
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Cooper, Matthew ...
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Dixon, Anna L
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Gibson, Quince
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Grundberg, Elin
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Hao, Ke
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Juhani Junttila, ...
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Kaplan, Lee M
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Kettunen, Johann ...
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König, Inke R
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Kwan, Tony
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Lawrence, Robert ...
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Levinson, Dougla ...
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Lorentzon, Matti ...
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McKnight, Barbar ...
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Morris, Andrew P
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Muller, Martina
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Suh Ngwa, Julius
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Purcell, Shaun
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Rafelt, Suzanne
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Salem, Rany M
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Salvi, Erika
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Sanna, Serena
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Shi, Jianxin
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Sovio, Ulla
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Thompson, John R
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Turchin, Michael ...
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Vandenput, Liesb ...
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Verlaan, Dominiq ...
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Vitart, Veroniqu ...
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White, Charles C
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Ziegler, Andreas
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Almgren, Peter
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Balmforth, Antho ...
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Campbell, Harry
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Citterio, Lorena
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De Grandi, Aless ...
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Dominiczak, Anna
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Duan, Jubao
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Elliott, Paul
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Elosua, Roberto
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Eriksson, Johan ...
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Freimer, Nelson ...
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Geus, Eco J C
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Glorioso, Nicola
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Haiqing, Shen
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Hartikainen, Ann ...
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Havulinna, Aki S
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Hicks, Andrew A
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Hui, Jennie
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Igl, Wilmar
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Illig, Thomas
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Jula, Antti
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Kajantie, Eero
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Kilpeläinen, Tuo ...
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Koiranen, Markku
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Kolcic, Ivana
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Koskinen, Seppo
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Kovacs, Peter
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Laitinen, Jaana
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Liu, Jianjun
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Lokki, Marja-Lii ...
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Marusic, Ana
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Maschio, Andrea
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Meitinger, Thoma ...
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Mulas, Antonella
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Paré, Guillaume
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Parker, Alex N
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Peden, John F
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Petersmann, Astr ...
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Pichler, Irene
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Pietiläinen, Kir ...
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Pouta, Anneli
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Ridderstråle, Ma ...
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Rotter, Jerome I
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Sambrook, Jennif ...
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Sanders, Alan R
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Oliver Schmidt, ...
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Sinisalo, Juha
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Smit, Jan H
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Stringham, Heath ...
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Bragi Walters, G
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Widen, Elisabeth
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Wild, Sarah H
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Willemsen, Gonne ...
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Zagato, Laura
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Zgaga, Lina
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Zitting, Paavo
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Alavere, Helene
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Farrall, Martin
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McArdle, Wendy L
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Nelis, Mari
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Peters, Marjolei ...
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Ripatti, Samuli
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van Meurs, Joyce ...
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Aben, Katja K
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Ardlie, Kristin ...
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Beckmann, Jacque ...
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Beilby, John P
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Bergman, Richard ...
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Bergmann, Sven
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Collins, Francis ...
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Cusi, Daniele
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den Heijer, Mart ...
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Eiriksdottir, Gu ...
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Gejman, Pablo V
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Hall, Alistair S
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Hamsten, Anders
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Huikuri, Heikki ...
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Iribarren, Carlo ...
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Kähönen, Mika
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Kaprio, Jaakko
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Kathiresan, Seka ...
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Kiemeney, Lamber ...
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Kocher, Thomas
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Launer, Lenore J
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Lehtimäki, Terho
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Melander, Olle
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Mosley, Tom H
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Musk, Arthur W
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Nieminen, Markku ...
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O'Donnell, Chris ...
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Ohlsson, Claes, ...
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Oostra, Ben
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Palmer, Lyle J
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Raitakari, Olli
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Ridker, Paul M
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Rioux, John D
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Rissanen, Aila
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Rivolta, Carlo
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Schunkert, Herib ...
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Shuldiner, Alan ...
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Siscovick, David ...
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Stumvoll, Michae ...
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Tönjes, Anke
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Tuomilehto, Jaak ...
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van Ommen, Gert- ...
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Viikari, Jorma
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Heath, Andrew C
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Martin, Nicholas ...
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Montgomery, Gran ...
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Province, Michae ...
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Kayser, Manfred
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Arnold, Alice M
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Atwood, Larry D
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Boerwinkle, Eric
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Chanock, Stephen ...
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Deloukas, Panos
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Gieger, Christia ...
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Grönberg, Henrik
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Hall, Per
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Hattersley, Andr ...
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Hengstenberg, Ch ...
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Hoffman, Wolfgan ...
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Mark Lathrop, G
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Salomaa, Veikko
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Schreiber, Stefa ...
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Uda, Manuela
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Waterworth, Dawn
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Wright, Alan F
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Assimes, Themist ...
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Barroso, Ines
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Hofman, Albert
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Mohlke, Karen L
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Boomsma, Dorret ...
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Caulfield, Mark ...
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Adrienne Cupples ...
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Erdmann, Jeanett ...
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Fox, Caroline S
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Gudnason, Vilmun ...
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Gyllensten, Ulf
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Harris, Tamara B
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Hayes, Richard B
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Jarvelin, Marjo- ...
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Mooser, Vincent
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Munroe, Patricia ...
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Ouwehand, Willem ...
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Penninx, Brenda ...
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Pramstaller, Pet ...
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Quertermous, Tho ...
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Rudan, Igor
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Samani, Nilesh J
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Spector, Timothy ...
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Völzke, Henry
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Watkins, Hugh
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Wilson, James F
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Groop, Leif
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Haritunians, Tal ...
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Hu, Frank B
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Kaplan, Robert C
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Metspalu, Andres
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North, Kari E
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Schlessinger, Da ...
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Wareham, Nichola ...
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Hunter, David J
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O'Connell, Jeffr ...
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Strachan, David ...
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Wichmann, H-Eric ...
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Borecki, Ingrid ...
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van Duijn, Corne ...
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Schadt, Eric E
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Thorsteinsdottir ...
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Peltonen, Leena
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Uitterlinden, An ...
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Visscher, Peter ...
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Chatterjee, Nila ...
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Loos, Ruth J F
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Boehnke, Michael
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McCarthy, Mark I
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Ingelsson, Erik
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Lindgren, Cecili ...
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Abecasis, Gonçal ...
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Stefansson, Kari
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Frayling, Timoth ...
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Hirschhorn, Joel ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Endocrinology an ...
- Articles in the publication
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Nature
- By the university
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University of Gothenburg
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Lund University
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Karolinska Institutet
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Uppsala University