-
1دورية أكاديمية
المؤلفون: Im, KM, Kirchhoff, T, Wang, XS, Green, T, Chow, CY, Vijai, J, Korn, J, Gaudet, MM, Fredericksen, Z, Pankratz, VS, Guiducci, C, Crenshaw, A, McGuffog, L, Kartsonaki, C, Morrison, J, Healey, S, Sinilnikova, OM, Mai, PL, Greene, MH, Piedmonte, M, Rubinstein, WS, Hogervorst, FB, Rookus, MA, Collee, JM, Hoogerbrugge, N, van Asperen, CJ, Meijers-Heijboer, HEJ, van Roozendaal, CE, Caldes, T, Perez-Segura, P, Jakubowska, A, Lubinski, J, Huzarski, T, Blecharz, P, Nevanlinna, H, Aittomaki, K, Lazaro, C, Blanco, I, Barkardottir, RB, Montagna, M, D'Andrea, E, Devilee, P, Olopade, OI, Neuhausen, SL, Peissel, B, Bonanni, B, Peterlongo, P, Singer, CF, Rennert, G, Lejbkowicz, F, Andrulis, IL, Glendon, G, Ozcelik, H, Toland, AE, Caligo, MA, Beattie, MS, Chan, S, Domchek, SM, Nathanson, KL, Rebbeck, TR, Phelan, C, Narod, S, John, EM, Hopper, JL, Buys, SS, Daly, MB, Southey, MC, Terry, MB, Tung, N, Hansen, TVO, Osorio, A, Benitez, J, Duran, M, Weitzel, JN, Garber, J, Hamann, U, Peock, S, Cook, M, Oliver, CT, Frost, D, Platte, R, Evans, DG, Eeles, R, Izatt, L, Paterson, J, Brewer, C, Hodgson, S, Morrison, PJ, Porteous, M, Walker, L, Rogers, MT, Side, LE, Godwin, AK, Schmutzler, RK, Wappenschmidt, B, Laitman, Y, Meindl, A, Deissler, H, Varon-Mateeva, R, Preisler-Adams, S, Kast, K, Venat-Bouvet, L, Stoppa-Lyonnet, D, Chenevix-Trench, G, Easton, DF, Klein, RJ, Daly, MJ, Friedman, E, Dean, M, Clark, AG, Altshuler, DM, Antoniou, AC, Couch, FJ, Offit, K, Gold, B
المصدر: Human genetics. 130(5):685-699
مصطلحات موضوعية: Medicin och hälsovetenskap
-
2دورية أكاديمية
المؤلفون: Lek, M, Karczewski, KJ, Minikel, EV, Samocha, KE, Banks, E, Fennell, T, O'Donnell-Luria, AH, Ware, JS, Hill, AJ, Cummings, BB, Tukiainen, T, Birnbaum, DP, Kosmicki, JA, Duncan, LE, Estrada, K, Zhao, FM, Zou, J, Pierce-Hollman, E, Berghout, J, Cooper, DN, Deflaux, N, DePristo, M, Do, R, Flannick, J, Fromer, M, Gauthier, L, Goldstein, J, Gupta, N, Howrigan, D, Kiezun, A, Kurki, MI, Moonshine, AL, Natarajan, P, Orozeo, L, Peloso, GM, Poplin, R, Rivas, MA, Ruano-Rubio, V, Rose, SA, Ruderfer, DM, Shakir, K, Stenson, PD, Stevens, C, Thomas, BP, Tiao, G, Tusie-Luna, MT, Weisburd, B, Won, HH, Yu, DM, Altshuler, DM, Ardissino, D, Boehnke, M, Danesh, J, Donnelly, S, Elosua, R, Florez, JC, Gabriel, SB, Getz, G, Glatt, SJ, Hultman, CM, Kathiresan, S, Laakso, M, NcCarroll, S, McCarthy, MI, McGovern, D, McPherson, R, Neale, BM, Palotie, A, Purcell, SM, Saleheen, D, Scharf, JM, Sklar, P, Sullivan, PF, Tuomilehto, J, Tsuang, MT, Watkins, HC, Wilson, JG, Daly, MJ, MacArthur, DG
المصدر: Nature. 536(7616):285
مصطلحات موضوعية: Medicin och hälsovetenskap
-
3دورية أكاديمية
المؤلفون: Altshuler, DM, Durbin, RM, Abecasis, GR, Bentley, DR, Chakravarti, A, Clark, AG, Donnelly, P, Eichler, EE, Flicek, P, Gabriel, SB, Gibbs, RA, Green, ED, Hurles, ME, Knoppers, BM, Korbel, JO, Lander, ES, Lee, C, Lehrach, H, Mardis, ER, Marth, GT, McVean, GA, Nickerson, DA, Schmidt, JP, Sherry, ST, Wang, J, Wilson, RK, Boerwinkle, E, Doddapaneni, H, Han, Y, Korchina, V, Kovar, C, Lee, S, Muzny, D, Reid, JG, Zhu, Y, Chang, Y, Feng, Q, Fang, X, Guo, X, Jian, M, Jiang, H, Jin, X, Lan, T, Li, G, Li, J, Li, Y, Liu, S, Liu, X, Lu, Y, Ma, X, Tang, M, Wang, B, Wang, G, Wu, H, Wu, R, Xu, X, Yin, Y, Zhang, D, Zhang, W, Zhao, J, Zhao, M, Zheng, X, Gupta, N, Gharani, N, Toji, LH, Gerry, NP, Resch, AM, Barker, J, Clarke, L, Gil, L, Hunt, SE, Kelman, G, Kulesha, E, Leinonen, R, McLaren, WM, Radhakrishnan, R, Roa, A, Smirnov, D, Smith, RE, Streeter, I, Thormann, A, Toneva, I, Vaughan, B, Zheng-Bradley, X, Grocock, R, Humphray, S, James, T, Kingsbury, Z, Sudbrak, R, Albrecht, MW, Amstislavskiy, VS, Borodina, TA, Lienhard, M, Mertes, F, Sultan, M, Timmermann, B, Yaspo, M-L, Fulton, L, Fulton, R, Ananiev, V, Belaia, Z, Beloslyudtsev, D, Bouk, N, Chen, C, Church, D, Cohen, R, Cook, C, Garner, J, Hefferon, T, Kimelman, M, Liu, C, Lopez, J, Meric, P, O'Sullivan, C, Ostapchuk, Y, Phan, L, Ponomarov, S, Schneider, V, Shekhtman, E, Sirotkin, K, Slotta, D, Zhang, H, Balasubramaniam, S, Burton, J, Danecek, P, Keane, TM, Kolb-Kokocinski, A, McCarthy, S, Stalker, J, Quail, M, Davies, CJ, Gollub, J, Webster, T, Wong, B, Zhan, Y, Auton, A, Campbell, CL, Kong, Y, Marcketta, A, Yu, F, Antunes, L, Bainbridge, M, Sabo, A, Huang, Z, Coin, LJM, Fang, L, Li, Q, Li, Z, Lin, H, Liu, B, Luo, R, Shao, H, Xie, Y, Ye, C, Yu, C, Zhang, F, Zheng, H, Zhu, H, Alkan, C, Dal, E, Kahveci, F, Garrison, EP, Kural, D, Lee, W-P, Leong, WF, Stromberg, M, Ward, AN, Wu, J, Zhang, M, Daly, MJ, DePristo, MA, Handsaker, RE, Banks, E, Bhatia, G, del Angel, G, Genovese, G, Li, H, Kashin, S, McCarroll, SA, Nemesh, JC, Poplin, RE, Yoon, SC, Lihm, J, Makarov, V, Gottipati, S, Keinan, A, Rodriguez-Flores, JL, Rausch, T, Fritz, MH, Stuetz, AM, Beal, K, Datta, A, Herrero, J, Ritchie, GRS, Zerbino, D, Sabeti, PC, Shlyakhter, I, Schaffner, SF, Vitti, J, Cooper, DN, Ball, EV, Stenson, PD, Barnes, B, Bauer, M, Cheetham, RK, Cox, A, Eberle, M, Kahn, S, Murray, L, Peden, J, Shaw, R, Kenny, EE, Batzer, MA, Konkel, MK, Walker, JA, MacArthur, DG, Lek, M, Herwig, R, Ding, L, Koboldt, DC, Larson, D, Ye, K, Gravel, S, Swaroop, A, Chew, E, Lappalainen, T, Erlich, Y, Gymrek, M, Willems, TF, Simpson, JT, Shriver, MD, Rosenfeld, JA, Bustamante, CD, Montgomery, SB, De La Vega, FM, Byrnes, JK, Carroll, AW, DeGorter, MK, Lacroute, P, Maples, BK, Martin, AR, Moreno-Estrada, A, Shringarpure, SS, Zakharia, F, Halperin, E, Baran, Y, Cerveira, E, Hwang, J, Malhotra, A, Plewczynski, D, Radew, K, Romanovitch, M, Zhang, C, Hyland, FCL, Craig, DW, Christoforides, A, Homer, N, Izatt, T, Kurdoglu, AA, Sinari, SA, Squire, K, Xiao, C, Sebat, J, Antaki, D, Gujral, M, Noor, A, Burchard, EG, Hernandez, RD, Gignoux, CR, Haussler, D, Katzman, SJ, Kent, WJ, Howie, B, Ruiz-Linares, A, Dermitzakis, ET, Devine, SE, Goncalo, RA, Kang, HM, Kidd, JM, Blackwell, T, Caron, S, Chen, W, Emery, S, Fritsche, L, Fuchsberger, C, Jun, G, Li, B, Lyons, R, Scheller, C, Sidore, C, Song, S, Sliwerska, E, Taliun, D, Tan, A, Welch, R, Wing, MK, Zhan, X, Awadalla, P, Hodgkinson, A, Shi, X, Quitadamo, A, Lunter, G, Marchini, JL, Myers, S, Churchhouse, C, Delaneau, O, Gupta-Hinch, A, Kretzschmar, W, Iqbal, Z, Mathieson, I, Menelaou, A, Rimmer, A, Xifara, DK, Oleksyk, TK, Fu, Y, Xiong, M, Jorde, L, Witherspoon, D, Xing, J, Browning, BL, Browning, SR, Hormozdiari, F, Sudmant, PH, Khurana, E, Tyler-Smith, C, Albers, CA, Ayub, Q, Chen, Y, Colonna, V, Jostins, L, Walter, K, Xue, Y, Gerstein, MB, Abyzov, A, Balasubramanian, S, Chen, J, Clarke, D, Harmanci, AO, Jin, M, Lee, D, Liu, J, Mu, XJ, Zhang, J, Zhang, Y, Del Angel, G, Hartl, C, Shakir, K, Degenhardt, J, Meiers, S, Raeder, B, Casale, FP, Stegle, O, Lameijer, E-W, Hall, I, Bafna, V, Michaelson, J, Gardner, EJ, Mills, RE, Dayama, G, Chen, K, Fan, X, Chong, Z, Chen, T, Chaisson, MJ, Huddleston, J, Malig, M, Nelson, BJ, Parrish, NF, Blackburne, B, Lindsay, SJ, Ning, Z, Lam, H, Sisu, C, Challis, D, Evani, US, Lu, J, Nagaswamy, U, Yu, J, Li, W, Habegger, L, Yu, H, Cunningham, F, Dunham, I, Lage, K, Jespersen, JB, Horn, H, Kim, D, Desalle, R, Narechania, A, Sayres, MAW, Mendez, FL, Poznik, GD, Underhill, PA, Coin, L, Mittelman, D, Banerjee, R, Cerezo, M, Fitzgerald, T, Louzada, S, Massaia, A, Ritchie, GR, Yang, F, Kalra, D, Hale, W, Dan, X, Barnes, KC, Beiswanger, C, Cai, H, Cao, H, Henn, B, Jones, D, Kaye, JS, Kent, A, Kerasidou, A, Mathias, R, Ossorio, PN, Parker, M, Rotimi, CN, Royal, CD, Sandoval, K, Su, Y, Tian, Z, Tishkoff, S, Via, M, Wang, Y, Yang, H, Yang, L, Zhu, J, Bodmer, W, Bedoya, G, Cai, Z, Gao, Y, Chu, J, Peltonen, L, Garcia-Montero, A, Orfao, A, Dutil, J, Martinez-Cruzado, JC, Mathias, RA, Hennis, A, Watson, H, McKenzie, C, Qadri, F, LaRocque, R, Deng, X, Asogun, D, Folarin, O, Happi, C, Omoniwa, O, Stremlau, M, Tariyal, R, Jallow, M, Joof, FS, Corrah, T, Rockett, K, Kwiatkowski, D, Kooner, J, Tran, TH, Dunstan, SJ, Nguyen, TH, Fonnie, R, Garry, R, Kanneh, L, Moses, L, Schieffelin, J, Grant, DS, Gallo, C, Poletti, G, Saleheen, D, Rasheed, A, Brook, LD, Felsenfeld, A, McEwen, JE, Vaydylevich, Y, Duncanson, A, Dunn, M, Schloss, JA, Brooks, LD
العلاقة: pii: nature15393; Altshuler, D. M., Durbin, R. M., Abecasis, G. R., Bentley, D. R., Chakravarti, A., Clark, A. G., Donnelly, P., Eichler, E. E., Flicek, P., Gabriel, S. B., Gibbs, R. A., Green, E. D., Hurles, M. E., Knoppers, B. M., Korbel, J. O., Lander, E. S., Lee, C., Lehrach, H., Mardis, E. R. ,. Abecasis, G. R. (2015). A global reference for human genetic variation. NATURE, 526 (7571), pp.68-+. https://doi.org/10.1038/nature15393Test.; http://hdl.handle.net/11343/261691Test
-
4دورية أكاديمية
المؤلفون: Lim, ET, Wuertz, P, Havulinna, AS, Palta, P, Tukiainen, T, Rehnstrom, K, Esko, T, Magi, R, Inouye, M, Lappalainen, T, Chan, Y, Salem, RM, Lek, M, Flannick, J, Sim, X, Manning, A, Ladenvall, C, Bumpstead, S, Hamalainen, E, Aalto, K, Maksimow, M, Salmi, M, Blankenberg, S, Ardissino, D, Shah, S, Horne, B, McPherson, R, Hovingh, GK, Reilly, MP, Watkins, H, Goel, A, Farrall, M, Girelli, D, Reiner, AP, Stitziel, NO, Kathiresan, S, Gabriel, S, Barrett, JC, Lehtimaki, T, Laakso, M, Groop, L, Kaprio, J, Perola, M, McCarthy, MI, Boehnke, M, Altshuler, DM, Lindgren, CM, Hirschhorn, JN, Metspalu, A, Freimer, NB, Zeller, T, Jalkanen, S, Koskinen, S, Raitakari, O, Durbin, R, MacArthur, DG, Salomaa, V, Ripatti, S, Daly, MJ, Palotie, A
المساهمون: Cutler, D
العلاقة: NHMRC/637400; pii: PGENETICS-D-14-00722; Lim, E. T., Wuertz, P., Havulinna, A. S., Palta, P., Tukiainen, T., Rehnstrom, K., Esko, T., Magi, R., Inouye, M., Lappalainen, T., Chan, Y., Salem, R. M., Lek, M., Flannick, J., Sim, X., Manning, A., Ladenvall, C., Bumpstead, S., Hamalainen, E. ,. Palotie, A. (2014). Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population. PLOS GENETICS, 10 (7), https://doi.org/10.1371/journal.pgen.1004494Test.; http://hdl.handle.net/11343/262029Test
-
5دورية أكاديمية
المؤلفون: Colonna, V, Ayub, Q, Chen, Y, Pagani, L, Luisi, P, Pybus, M, Garrison, E, Xue, Y, Tyler-Smith, C, Abecasis, GR, Auton, A, Brooks, LD, Depristo, MA, Durbin, RM, Handsaker, RE, Kang, HM, Marth, GT, McVean, G, Altshuler, DM, Bentley, DR, Chakravarti, A, Clark, AG, Donnelly, P, Eichler, EE, Flicek, P, Gabriel, SB, Gibbs, RA, Green, ED, Hurles, ME, Knoppers, BM, Korbel, JO, Lander, ES, Lee, C, Lehrach, H, Mardis, ER, McVean, GA, Nickerson, DA, Schmidt, JP, Sherry, ST, Wang, J, Wilson, RK, Dinh, H, Kovar, C, Lee, S, Lewis, L, Muzny, D, Reid, J, Wang, M, Fang, X, Guo, X, Jian, M, Jiang, H, Jin, X, Li, G, Li, J, Li, Y, Li, Z, Liu, X, Lu, Y, Ma, X, Su, Z, Tai, S, Tang, M, Wang, B, Wang, G, Wu, H, Wu, R, Yin, Y, Zhang, W, Zhao, J, Zhao, M, Zheng, X, Zhou, Y, Gupta, N, Clarke, L, Leinonen, R, Smith, RE, Zheng-Bradley, X, Grocock, R, Humphray, S, James, T, Kingsbury, Z, Sudbrak, R, Albrecht, MW, Amstislavskiy, VS, Borodina, TA, Lienhard, M, Mertes, F, Sultan, M, Timmermann, B, Yaspo, ML, Fulton, L, Fulton, R, Weinstock, GM, Balasubramaniam, S, Burton, J, Danecek, P, Keane, TM, Kolb-Kokocinski, A, McCarthy, S
المساهمون: The 1000 Genomes Project Consortium
مصطلحات موضوعية: selective sweep, Levenshtein distance, standing variation, lactase persistence, functional annotation cluster
وصف الملف: 1 - 14; Print-Electronic
العلاقة: Genome Biology; Colonna, V., Ayub, Q., Chen, Y. et al. and the 1000 Genomes Project Consortium. (2014) 'Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences', Genome Biology, 15 (6), R88, pp. 1 - 14. doi:10.1186/gb-2014-15-6-r88.; https://bura.brunel.ac.uk/handle/2438/24428Test; https://doi.org/10.1186/gb-2014-15-6-r88Test
الإتاحة: https://doi.org/10.1186/gb-2014-15-6-r88Test
https://bura.brunel.ac.uk/handle/2438/24428Test -
6دورية أكاديمية
المؤلفون: Altshuler, DM, Durbin, RM, Abecasis, GR, Bentley, DR, Chakravarti, A, Clark, AG, Donnelly, P, Eichler, EE, Flicek, P, Gabriel, SB, Gibbs, RA, Green, ED, Hurles, ME, Knoppers, BM, Korbel, JO, Lander, ES, Lee, C, Lehrach, H, Mardis, ER, Marth, GT, McVean, GA, Nickerson, DA, Schmidt, JP, Sherry, ST, Wang, J, Wilson, RK, Dinh, H, Kovar, C, Lee, S, Lewis, L, Muzny, D, Reid, J, Wang, M, Fang, X, Guo, X, Jian, M, Jiang, H, Jin, X, Li, G, Li, J, Li, Y, Li, Z, Liu, X, Lu, Y, Ma, X, Su, Z, Tai, S, Tang, M, Wang, B, Wang, G, Wu, H, Wu, R, Yin, Y, Zhang, W, Zhao, J, Zhao, M, Zheng, X, Zhou, Y, Gupta, N, Clarke, L, Leinonen, R, Smith, RE, Zheng-Bradley, X, Grocock, R, Humphray, S, James, T, Kingsbury, Z, Sudbrak, R, Albrecht, MW, Amstislavskiy, VS, Borodina, TA, Lienhard, M, Mertes, F, Sultan, M, Timmermann, B, Yaspo, M-L, Fulton, L, Fulton, R, Weinstock, GM, Balasubramaniam, S, Burton, J, Danecek, P, Keane, TM, Kolb-Kokocinski, A, McCarthy, S, Stalker, J, Quail, M, Davies, CJ, Gollub, J, Webster, T, Wong, B, Zhan, Y, Auton, A, Yu, F, Bainbridge, M, Challis, D, Evani, US, Lu, J, Nagaswamy, U, Sabo, A, Wang, Y, Yu, J, Coin, LJM, Fang, L, Li, Q, Lin, H, Liu, B, Luo, R, Qin, N, Shao, H, Xie, Y, Ye, C, Yu, C, Zhang, F, Zheng, H, Zhu, H, Garrison, EP, Kural, D, Lee, W-P, Leong, WF, Ward, AN, Wu, J, Zhang, M, Griffin, L, Hsieh, C-H, Mills, RE, Shi, X, Von Grotthuss, M, Zhang, C, Daly, MJ, DePristo, MA, Banks, E, Bhatia, G, Carneiro, MO, Del Angel, G, Genovese, G, Handsaker, RE, Hartl, C, McCarroll, SA, Nemesh, JC, Poplin, RE, Schaffner, SF, Shakir, K, Yoon, SC, Lihm, J, Makarov, V, Jin, H, Kim, W, Kim, KC, Rausch, T, Beal, K, Cunningham, F, Herrero, J, McLaren, WM, Ritchie, GRS, Gottipati, S, Keinan, A, Rodriguez-Flores, JL, Sabeti, PC, Grossman, SR, Tabrizi, S, Tariyal, R, Cooper, DN, Ball, EV, Stenson, PD, Barnes, B, Bauer, M, Cheetham, RK, Cox, T, Eberle, M, Kahn, S, Murray, L, Peden, J, Shaw, R, Ye, K, Batzer, MA, Konkel, MK, Walker, JA, MacArthur, DG, Lek, M, Herwig, R, Shriver, MD, Bustamante, CD, Byrnes, JK, De la Vega, FM, Gravel, S, Kenny, EE, Kidd, JM, Lacroute, P, Maples, BK, Moreno-Estrada, A, Zakharia, F, Halperin, E, Baran, Y, Craig, DW, Christoforides, A, Homer, N, Izatt, T, Kurdoglu, AA, Sinari, SA, Squire, K, Xiao, C, Sebat, J, Bafna, V, Burchard, EG, Hernandez, RD, Gignoux, CR, Haussler, D, Katzman, SJ, Kent, WJ, Howie, B, Ruiz-Linares, A, Dermitzakis, ET, Lappalainen, T, Devine, SE, Maroo, A, Tallon, LJ, Rosenfeld, JA, Michelson, LP, Kang, HM, Anderson, P, Angius, A, Bigham, A, Blackwell, T, Busonero, F, Cucca, F, Fuchsberger, C, Jones, C, Jun, G, Lyons, R, Maschio, A, Porcu, E, Reinier, F, Sanna, S, Schlessinger, D, Sidore, C, Tan, A, Trost, MK, Awadalla, P, Hodgkinson, A, Lunter, G, Marchini, JL, Myers, S, Churchhouse, C, Delaneau, O, Gupta-Hinch, A, Iqbal, Z, Mathieson, I, Rimmer, A, Xifara, DK, Oleksyk, TK, Fu, Y, Xiong, M, Jorde, L, Witherspoon, D, Xing, J, Browning, BL, Alkan, C, Hajirasouliha, I, Hormozdiari, F, Ko, A, Sudmant, PH, Chen, K, Chinwalla, A, Ding, L, Dooling, D, Koboldt, DC, McLellan, MD, Wallis, JW, Wendl, MC, Zhang, Q, Tyler-Smith, C, Albers, CA, Ayub, Q, Chen, Y, Coffey, AJ, Colonna, V, Huang, N, Jostins, L, Li, H, Scally, A, Walter, K, Xue, Y, Zhang, Y, Gerstein, MB, Abyzov, A, Balasubramanian, S, Chen, J, Clarke, D, Habegger, L, Harmanci, AO, Jin, M, Khurana, E, Mu, XJ, Sisu, C, Degenhardt, J, Stuetz, AM, Church, D, Michaelson, JJ, Ben, B, Lindsay, SJ, Ning, Z, Frankish, A, Harrow, J, Fowler, G, Hale, W, Kalra, D, Barker, J, Kelman, G, Kulesha, E, Radhakrishnan, R, Roa, A, Smirnov, D, Streeter, I, Toneva, I, Vaughan, B, Ananiev, V, Belaia, Z, Beloslyudtsev, D, Bouk, N, Chen, C, Cohen, R, Cook, C, Garner, J, Hefferon, T, Kimelman, M, Liu, C, Lopez, J, Meric, P, O'Sullivan, C, Ostapchuk, Y, Phan, L, Ponomarov, S, Schneider, V, Shekhtman, E, Sirotkin, K, Slotta, D, Zhang, H, Barnes, KC, Beiswanger, C, Cai, H, Cao, H, Gharani, N, Henn, B, Jones, D, Kaye, JS, Kent, A, Kerasidou, A, Mathias, R, Ossorio, PN, Parker, M, Reich, D, Rotimi, CN, Royal, CD, Sandoval, K, Su, Y, Tian, Z, Tishkoff, S, Toji, LH, Via, M, Yang, H, Yang, L, Zhu, J, Bodmer, W, Bedoya, G, Ming, CZ, Yang, G, You, CJ, Peltonen, L, Garcia-Montero, A, Orfao, A, Dutil, J, Martinez-Cruzado, JC, Brooks, LD, Felsenfeld, AL, McEwen, JE, Clemm, NC, Duncanson, A, Dunn, M, Guyer, MS, Peterson, JL
المصدر: 65 ; 56
مصطلحات موضوعية: Science & Technology, Multidisciplinary Sciences, Science & Technology - Other Topics, COPY NUMBER VARIATION, WIDE ASSOCIATION, POPULATION-STRUCTURE, RARE, VARIANTS, LOCI, MUTATION, RISK, Alleles, Binding Sites, Conserved Sequence, Evolution, Molecular, Genetic Variation, Genetics, Medical, Population, Genome, Human, Genome-Wide Association Study, Genomics, Haplotypes, Humans, Nucleotide Motifs, Polymorphism, Single Nucleotide, Racial Groups
العلاقة: Nature; http://hdl.handle.net/10044/1/96192Test
-
7دورية أكاديمية
المؤلفون: Reiling, E, Jafar-Mohammadi, B, van Riet, E, Weedon, MN, van Vliet-Ostaptchouk, JV, Hansen, T (Torben), Saxena, R, van Haeften, TW, Arp, PA, Das, Suman, Nijpels, G, Groenewoud, MJ, van Hove, EC, Uitterlinden, André, Smit, JWA, Morris, AD, Doney, ASF, Palmer, CNA, Guiducci, C, Hattersley, AT, Frayling, TM, Pedersen, O, Slagboom, PE (Eline), Altshuler, DM, Groop, L, Romijn, JA, Maassen, JA, Hofker, MH, Dekker, JM, McCarthy, MI, 't Hart, LM
المصدر: Reiling , E , Jafar-Mohammadi , B , van Riet , E , Weedon , MN , van Vliet-Ostaptchouk , JV , Hansen , T , Saxena , R , van Haeften , TW , Arp , PA , Das , S , Nijpels , G , Groenewoud , MJ , van Hove , EC , Uitterlinden , A , Smit , JWA , Morris , AD , Doney , ASF , Palmer , CNA , Guiducci , C , Hattersley , AT , Frayling , TM , Pedersen , O , Slagboom , PE , Altshuler , DM ....
مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, SDG 3 - Good Health and Well-being
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1007/s00125-009-1557-7Test
https://pure.eur.nl/en/publications/0d09511a-7cd8-4de4-af71-94003fe8b624Test
https://pure.eur.nl/ws/files/46947490/19847392_OA.pdfTest
http://hdl.handle.net/1765/25595Test -
8دورية أكاديمية
المؤلفون: Gaudet, MM, Kirchhoff, T, Green, T, Vijai, J, Korn, JM, Guiducci, C, Segre, AV, McGee, K, McGuffog, L, Kartsonaki, C, Morrison, J, Healey, S, Sinilnikova, OM, Stoppa-Lyonnet, D, Mazoyer, S, Gauthier-Villars, M, Sobol, H, Longy, M, Frenay, M, Hogervorst, FBL, Rookus, MA, Collee, Margriet, Hoogerbrugge, N, van Roozendaal, KEP, Piedmonte, M, Rubinstein, W, Nerenstone, S, Van Le, L, Blank, SV, Caldes, T, de la Hoya, M, Nevanlinna, H, Aittomaki, K, Lazaro, C (Conxi), Blanco, I, Arason, A, Johannsson, OT, Barkardottir, RB, Devilee, P, Olopade, OI, Neuhausen, SL, Wang, XS, Fredericksen, ZS, Peterlongo, P, Manoukian, S, Barile, M, Viel, A, Radice, P, Phelan, CM, Narod, S, Rennert, G, Lejbkowicz, F, Flugelman, A, Andrulis, IL, Glendon, G, Ozcelik, H, Toland, AE, Montagna, M, D'Andrea, E, Friedman, E, Laitman, Y, Borg, A, Beattie, M, Ramus, SJ, Domchek, SM, Nathanson, KL, Rebbeck, T, Spurdle, AB, Chen, XQ, Holland, H, John, EM, Hopper, JL, Buys, SS, Daly, MB, Southey, MC, Terry, MB, Tung, N, Hansen, TVO, Nielsen, FC, Greene, MI, Mai, PL, Osorio, A, Duran, M (Mercedes), Andres, R, Benitez, J, Weitzel, JN, Garber, J, Hamann, U, Peock, S, Cook, M, Oliver, C, Frost, D, Platte, R, Evans, DG, Lalloo, F, Eeles, R, Izatt, L, Walker, L, Eason, J, Barwell, J, Godwin, AK, Schmutzler, RK, Wappenschmidt, B, Engert, S, Arnold, N, Gadzicki, D, Dean, M, Gold, B, Klein, RJ, Couch, FJ, Chenevix-Trench, G, Easton, DF, Daly, MJ, Antoniou, AC, Altshuler, DM, Offit, K
المصدر: Gaudet , MM , Kirchhoff , T , Green , T , Vijai , J , Korn , JM , Guiducci , C , Segre , AV , McGee , K , McGuffog , L , Kartsonaki , C , Morrison , J , Healey , S , Sinilnikova , OM , Stoppa-Lyonnet , D , Mazoyer , S , Gauthier-Villars , M , Sobol , H , Longy , M , Frenay , M , Hogervorst , FBL , Rookus , MA , Collee , M , Hoogerbrugge , N , van Roozendaal , KEP , Piedmonte , ....
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM034711, name=EMC MM-03-47-11, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM038601, name=EMC MM-03-86-01, /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1371/journal.pgen.1001183Test
https://pure.eur.nl/en/publications/e845b527-cc0d-40c1-8831-f60ceebf6297Test
https://pure.eur.nl/ws/files/47057743/20101130-97.pdfTest
http://hdl.handle.net/1765/21840Test -
9
المؤلفون: Rusu V, Hoch E, Mercader JM, Tenen DE, Gymrek M, Hartigan CR, DeRan M, von Grotthuss M, Fontanillas P, Spooner A, Guzman G, Deik AA, Pierce KA, Dennis C, Clish CB, Carr SA, Wagner BK, Schenone M, Ng MCY, Chen BH, Consortium M, Consortium STD, Centeno-Cruz F, Zerrweck C, Orozco L, Altshuler DM, Schreiber SL, Florez JC, Jacobs SBR, Lander ES
المصدر: Cell, vol 170, iss 1
مصطلحات موضوعية: Monocarboxylic Acid Transporters, Heterozygote, precision medicine, solute carrier, Type 2 diabetes, Biology, monocarboxylates, Medical and Health Sciences, Chromosomes, Models, Clinical Research, lipid metabolism, medicine, Diabetes Mellitus, Genetics, Humans, 2.1 Biological and endogenous factors, Aetiology, disease mechanism, Metabolic and endocrine, Pair 17, Liver Disease, Cell Membrane, Diabetes, Molecular, Biological Sciences, medicine.disease, MEDIA Consortium, Histone Code, Liver, Haplotypes, fatty acid metabolism, SIGMA T2D Consortium, Gene Knockdown Techniques, Hepatocytes, Basigin, SLC16A11, type 2 diabetes, Digestive Diseases, Function (biology), Type 2, Human, MCT11, Developmental Biology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d5e8412362e4ff7953a43997cb22f1fTest
https://escholarship.org/uc/item/0931b8s4Test -
10دورية أكاديمية
المؤلفون: Roberts AM, Ware JS, Herman DS, Schafer S, Baksi J, Bick AG, Buchan RJ, Walsh R, John S, Wilkinson S, Mazzarotto F, Felkin LE, Gong SS, MacArthur JAL, Cunningham F, Flannick J, Gabriel SB, Altshuler DM, Macdonald PS, Heinig M, Keogh AM, Hayward CS, Banner NR, Pennell DJ, O'Regan DP, San TR, De Marvao A, Dawes TJW, Gulati A, Birks EJ, Yacoub MH, Radke M, Gotthardt M, Wilson JG, O'Donnell CJ, Prasad SK, Barton PJR, Fatkin D, Hubner N, Seidman JG, Seidman CE, Cook SA
المساهمون: Roberts, Am, Ware, J, Herman, D, Schafer, S, Baksi, J, Bick, Ag, Buchan, Rj, Walsh, R, John, S, Wilkinson, S, Mazzarotto, F, Felkin, Le, Gong, S, Macarthur, Jal, Cunningham, F, Flannick, J, Gabriel, Sb, Altshuler, Dm, Macdonald, P, Heinig, M, Keogh, Am, Hayward, C, Banner, Nr, Pennell, Dj, O'Regan, Dp, San, Tr, De Marvao, A, Dawes, Tjw, Gulati, A, Birks, Ej, Yacoub, Mh, Radke, M, Gotthardt, M, Wilson, Jg, O'Donnell, Cj, Prasad, Sk, Barton, Pjr, Fatkin, D, Hubner, N, Seidman, Jg, Seidman, Ce, Cook, Sa
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000348353400004; volume:7; issue:270; numberofpages:14; journal:SCIENCE TRANSLATIONAL MEDICINE; http://hdl.handle.net/11379/545732Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84988449067