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1دورية أكاديمية
المؤلفون: Marshall, CR, Howrigan, DP, Merico, D, Thiruvahindrapuram, B, Wu, WT, Greer, DS, Antaki, D, Shetty, A, Holmans, PA, Pinto, D, Gujral, M, Brandler, WM, Malhotra, D, Wang, ZZ, Fajarado, KVF, Maile, MS, Ripke, S, Agartz, I, Albus, M, Alexander, M, Amin, F, Atkins, J, Bacanu, SA, Belliveau, RA, Bergen, SE, Ertalan, M, Bevilacqua, E, Bigdeli, TB, Black, DW, Bruggeman, R, Buccola, NG, Buckner, RL, Bulik-Sullivan, B, Byerley, W, Cahn, W, Cai, GQ, Cairns, MJ, Campion, D, Cantor, RM, Carr, VJ, Carrera, N, Catts, SV, Chambert, KD, Cheng, W, Cloninger, CR, Cohen, D, Cormican, P, Craddock, N, Crespo-Facorro, B, Crowley, JJ, Curtis, D, Davidson, M, Davis, KL, Degenhardt, F, Del Favero, J, DeLisi, LE, Dikeos, D, Dinan, T, Djurovic, S, Donohoe, G, Drapeau, E, Duan, J, Dudbridge, F, Eichhammer, P, Eriksson, J, Escott-Price, V, Essioux, L, Fanous, AH, Farh, KH, Farrell, MS, Frank, J, Franke, L, Freedman, R, Freimer, NB, Friedman, JI, Forstner, AJ, Fromer, M, Genovese, G, Georgieva, L, Gershon, ES, Giegling, I, Giusti-Rodriguez, P, Godard, S, Goldstein, JI, Gratten, J, de Haan, L, Hamshere, ML, Hansen, M, Hansen, T, Haroutunian, V, Hartmann, AM, Henskens, FA, Herms, S, Hirschhorn, JN, Hoffinann, P, Hofman, A, Huang, H, Ikeda, M, Joa, I, Kahler, AK, Kahn, RS, Kalaydjieva, L, Karjalainen, J, Kavanagh, D, Keller, MC, Kelly, BJ, Kennedy, JL, Kim, Y, Knowles, JA, Konte, B, Laurent, C, Lee, P, Lee, SH, Legge, SE, Lerer, B, Levy, DL, Liang, KY, Lieberman, J, Lonnqvist, J, Loughland, CM, Magnusson, PKE, Maher, BS, Maier, W, Mallet, J, Mattheisen, M, Mattingsdal, M, McCarley, RW, McDonald, C, McIntosh, AM, Meier, S, Meijer, CJ, Melle, I, Mesholam-Gately, RI, Metspalu, A, Michie, PT, Milani, L, Milanova, V, Mokrab, Y, Morris, DW, Muller-Myhsok, B, Murphy, KC, Murray, RM, Myin-Germeys, I, Nenadic, I, Nertney, DA, Nestadt, G, Nicodemus, KK, Nisenbaum, L, Nordin, A, O'Callaghan, E, O'Dushlaine, C, Oh, SY, Olincy, A, Olsen, L, O'Neill, FA, Van Os, J, Pantelis, C, Papadimitriou, GN, Parkhomenko, E, Pato, MT, Paunio, T, Perkins, DO, Pers, TH, Pietilainen, O, Pimm, J, Pocklington, AJ, Powell, J, Price, A, Pulver, AE, Purcell, SM, Quested, D, Rasmussen, HB, Reichenberg, A, Reimers, MA, Richards, AL, Roffman, JL, Roussos, P, Ruderfer, DM, Salomaa, V, Sanders, AR, Savitz, A, Schall, U, Schulze, TG, Schwab, SG, Scolnick, EM, Scott, RJ, Seidman, LJ, Shi, JX, Silverman, JM, Smoller, JW, Soderman, E, Spencer, CCA, Stahl, EA, Strengman, E, Strohmaier, J, Stroup, TS, Suvisaari, J, Svrakic, DM, Szatkiewicz, JP, Thirumalai, S, Tooney, PA, Veijola, J, Visscher, PM, Waddington, J, Walsh, D, Webb, BT, Weiser, M, Wildenauer, DB, Williams, NM, Williams, S, Witt, SH, Wolen, AR, Wormley, BK, Wray, NR, Wu, JQ, Zai, CC, Adolfsson, R, Andreassen, OA, Blackwood, DHR, Bramon, E, Buxbaum, JD, Cichon, S, Collier, DA, Corvin, A, Daly, MJ, Darvasi, A, Domenici, E, Esko, T, Gejman, PV, Gill, M, Gurling, H, Hultman, CM, Iwata, N, Jablensky, AV, Jonsson, EG, Kendler, KS, Kirov, G, Knight, J, Levinson, DF, Li, QQS, McCarroll, SA, McQuillin, A, Moran, JL, Mowry, BJ, Nothen, MM, Ophoff, RA, Owen, MJ, Palotie, A, Pato, CN, Petryshen, TL, Posthuma, D, Rietschel, M, Riley, BP, Rujescu, D, Sklar, P, St Clair, D, Walters, JTR, Werge, T, Siillivan, PF, O'Donovan, MC, Scherer, SW, Neale, BM, Sebat, J
المصدر: Nature genetics. 49(1):27-35
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Dyment, D. A. (David A.), O'Donnell-Luria, A. (Anne), Agrawal, P. B. (Pankaj B.), Coban Akdemir, Z. (Zeynep), Aleck, K. A. (Kyrieckos A.), Antaki, D. (Danny), Al Sharhan, H. (Hind), Au, P. B. (Ping-Yee B.), Aydin, H. (Hatip), Beggs, A. H. (Alan H.), Bilguvar, K. (Kaya), Boerwinkle, E. (Eric), Brand, H. (Harrison), Brownstein, C. A. (Catherine A.), Buyske, S. (Steve), Chodirker, B. (Bernard), Choi, J. (Jungmin), Chudley, A. E. (Albert E.), Clericuzio, C. L. (Carol L.), Cox, G. F. (Gerald F.), Curry, C. (Cynthia), De Boer, E. (Elke), De Vries, B. B. (Bert B. A.), Dunn, K. (Kathryn), Dutmer, C. M. (Cullen M.), England, E. M. (Eleina M.), Fahrner, J. A. (Jill A.), Geckinli, B. B. (Bilgen B.), Genetti, C. A. (Casie A.), Gezdirici, A. (Alper), Gibson, W. T. (William T.), Gleeson, J. G. (Joseph G.), Greenberg, C. R. (Cheryl R.), Hall, A. (April), Hamosh, A. (Ada), Hartley, T. (Taila), Jhangiani, S. N. (Shalini N.), Karaca, E. (Ender), Kernohan, K. (Kristin), Lauzon, J. L. (Julie L.), Lewis, M. E. (M. E. Suzanne), Lowry, R. B. (R. Brian), López-Giráldez, F. (Francesc), Matise, T. C. (Tara C.), McEvoy-Venneri, J. (Jennifer), McInnes, B. (Brenda), Mhanni, A. (Aziz), Garcia Minaur, S. (Sixto), Moilanen, J. (Jukka), Nguyen, A. (An), Nowaczyk, M. J. (Malgorzata J. M.), Posey, J. E. (Jennifer E.), Õunap, K. (Katrin), Pehlivan, D. (Davut), Pajusalu, S. (Sander), Penney, L. S. (Lynette S.), Poterba, T. (Timothy), Prontera, P. (Paolo), Rodovalho Doriqui, M. J. (Maria Juliana), Sawyer, S. L. (Sarah L.), Sobreira, N. (Nara), Stanley, V. (Valentina), Torun, D. (Deniz), Wargowski, D. (David), Witmer, P. D. (P. Dane), Wong, I. (Isaac), Xing, J. (Jinchuan), Zaki, M. S. (Maha S.), Zhang, Y. (Yeting), C. C. (Care4Rare Consortium), C. F. (Centers For Mendelian Genomics), Boycott, K. M. (Kym M.), Bamshad, M. J. (Michael J.), Nickerson, D. A. (Deborah A.), Blue, E. E. (Elizabeth E.), Innes, A. M. (A. Micheil)
مصطلحات موضوعية: Dubowitz syndrome, exome sequencing, genetic heterogeneity, genome sequencing, microarray
وصف الملف: application/pdf
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3دورية أكاديمية
المؤلفون: Chai, G, Webb, A, Li, C, Antaki, D, Lee, S, Breuss, MW, Lang, N, Stanley, V, Anzenberg, P, Yang, X, Marshall, T, Gaffney, P, Wierenga, KJ, Chung, BH-Y, Tsang, MH-Y, Pais, LS, Lovgren, AK, VanNoy, GE, Rehm, HL, Mirzaa, G, Leon, E, Diaz, J, Neumann, A, Kalverda, AP, Manfield, IW, Parry, DA, Logan, CV, Johnson, CA, Bonthron, DT, Valleley, EMA, Issa, MY, Abdel-Ghafar, SF, Abdel-Hamid, MS, Jennings, P, Zaki, MS, Sheridan, E, Gleeson, JG
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/168429/1/Neuron_19_01905_R1.pdfTest; Chai, G, Webb, A, Li, C et al. (34 more authors) (2021) Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. Neuron, 109 (2). pp. 241-256. ISSN 0896-6273
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4دورية أكاديمية
المؤلفون: Shanta, O., Noor, A., Sebat, J., Chaisson, M., Sanders, A., Zhao, X., Malhotra, A., Porubsky, D., Rausch, T., Gardner, E., Rodriguez, O., Guo, L., Collins, R., Fan, X., Wen, J., Handsaker, R., Fairley, S., Kronenberg, Z., Kong, X., Hormozdiari, F., Lee, D., Wenger, A., Hastie, A., Antaki, D., Anantharaman, T., Audano, P., Brand, H., Cantsilieris, S., Cao, H., Cerveira, E., Chen, C., Chen, X., Chin, C., Chong, Z., Chuang, N., Lambert, C., Church, D., Clarke, L., Farrell, A., Flores, J., Galeey, T., Gujral, M., Guryev, V., Heaton, W., Korlach, J., Kumar, S., Kwon, J., Lam, E., Lee, J., Lee, W., Lee, S., Li, S., Marks, P., Viaud-Martinez, K., Meiers, S., Munson, K., Navarro, F., Nelson, B., Nodzak, C., Kyriazopoulou-Panagiotopoulou, S., Pang, A., Rosanio, G., Ryan, M., Stuetz, A., Spierings, D., Ward, A., Welch, A., Xiao, M., Xu, W., Zhang, C., Zhu, Q., Zheng-Bradley, X., Lowy, E., Yakneen, S., McCarroll, S., Jun, G., Ding, L., Koh, C., Flicek, P., Chen, K., Gerstein, M., Kwok, P., Lansdorp, P., Marth, G., Shi, X., Bashir, A., Ye, K., Devine, S., Talkowski, M., Mills, R., Marschall, T., Korbel, J., Eichler, E., Lee, C.
المساهمون: HGSVC
المصدر: BMC Genomics
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/21.11116/0000-0006-8E73-9Test; http://hdl.handle.net/21.11116/0000-0006-8E75-7Test
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5دورية أكاديمية
المؤلفون: Chaisson, M., Sanders, A., Zhao, X., Malhotra, A., Porubsky, D., Rausch, T., Gardner, E., Rodriguez, O., Guo, L., Collins, R., Fan, X., Wen, J., Handsaker, R., Fairley, S., Kronenberg, Z., Kong, X., Hormozdiari, F., Lee, D., Wenger, A., Hastie, A., Antaki, D., Anantharaman, T., Audano, P., Brand, H., Cantsilieris, S., Cao, H., Cerveira, E., Chen, C., Chen, X., Chin, C., Chong, Z., Chuang, N., Lambert, C., Church, D., Clarke, L., Farrell, A., Flores, J., Galeev, T., Gorkin, D., Gujral, M., Guryev, V., Heaton, W., Korlach, J., Kumar, S., Kwon, J., Lam, E., Lee, J., Lee, W., Lee, S., Li, S., Marks, P., Viaud-Martinez, K., Meiers, S., Munson, K., Navarro, F., Nelson, B., Nodzak, C., Noor, A., Kyriazopoulou-Panagiotopoulou, S., Pang, A., Qiu, Y., Rosanio, G., Ryan, M., Stuetz, A., Spierings, D., Ward, A., Welch, A., Xiao, M., Xu, W., Zhang, C., Zhu, Q., Zheng-Bradley, X., Lowy, E., Yakneen, S., McCarroll, S., Jun, G., Ding, L., Koh, C., Ren, B., Flicek, P., Chen, K., Gerstein, M., Kwok, P., Lansdorp, P., Marth, G., Sebat, J., Shi, X., Bashir, A., Ye, K., Devine, S., Talkowski, M., Mills, R., Marschall, T., Korbel, J., Eichler, E., Lee, C.
المصدر: Nature Communications
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/21.11116/0000-0003-865ETest-D; http://hdl.handle.net/21.11116/0000-0003-8660-9Test
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6دورية أكاديمية
المؤلفون: Chaisson, M.J.P., Sanders, A.D., Zhao, X., Malhotra, A., Porubsky, D., Rausch, T., Gardner, E.J., Rodriguez, O.L., Guo, L., Collins, R.L., Fan, X., Wen, J., Handsaker, R.E., Fairley, S., Kronenberg, Z.N., Kong, X., Hormozdiari, F., Lee, D., Wenger, A.M., Hastie, A.R., Antaki, D., Anantharaman, T., Audano, P.A., Brand, H., Cantsilieris, S., Cao, H., Cerveira, E., Chen, C., Chen, X., Chin, C.S., Chong, Z., Chuang, N.T., Lambert, C.C., Church, D.M., Clarke, L., Farrell, A., Flores, J., Galeev, T., Gorkin, D.U., Gujral, M., Guryev, V., Heaton, W.H., Korlach, J., Kumar, S., Kwon, J.Y., Lam, E.T., Lee, J.E., Lee, J., Lee, W.P., Lee, S.P., Li, S., Marks, P., Viaud-Martinez, K., Meiers, S., Munson, K.M., Navarro, F.C.P., Nelson, B.J., Nodzak, C., Noor, A., Kyriazopoulou-Panagiotopoulou, S., Pang, A.W.C., Qiu, Y., Rosanio, G., Ryan, M., Stütz, A., Spierings, D.C.J., Ward, A., Welch, A.E., Xiao, M., Xu, W., Zhang, C., Zhu, Q., Zheng-Bradley, X., Lowy, E., Yakneen, S., McCarroll, S., Jun, G., Ding, L., Koh, C.L., Ren, B., Flicek, P., Chen, K., Gerstein, M.B., Kwok, P.Y., Lansdorp, P.M., Marth, G.T., Sebat, J., Shi, X., Bashir, A., Ye, K., Devine, S.E., Talkowski, M.E., Mills, R.E., Marschall, T., Korbel, J.O., Eichler, E.E., Lee, C.
مصطلحات موضوعية: Cancer Research
وصف الملف: application/pdf; other
العلاقة: http://edoc.mdc-berlin.de/19627/1/19627oa.pdfTest; http://edoc.mdc-berlin.de/19627/2/19627suppl.zipTest; Multi-platform discovery of haplotype-resolved structural variation in human genomes. Chaisson, M.J.P. and Sanders, A.D. and Zhao, X. and Malhotra, A. and Porubsky, D. and Rausch, T. and Gardner, E.J. and Rodriguez, O.L. and Guo, L. and Collins, R.L. and Fan, X. and Wen, J. and Handsaker, R.E. and Fairley, S. and Kronenberg, Z.N. and Kong, X. and Hormozdiari, F. and Lee, D. and Wenger, A.M. and Hastie, A.R. and Antaki, D. and Anantharaman, T. and Audano, P.A. and Brand, H. and Cantsilieris, S. and Cao, H. and Cerveira, E. and Chen, C. and Chen, X. and Chin, C.S. and Chong, Z. and Chuang, N.T. and Lambert, C.C. and Church, D.M. and Clarke, L. and Farrell, A. and Flores, J. and Galeev, T. and Gorkin, D.U. and Gujral, M. and Guryev, V. and Heaton, W.H. and Korlach, J. and Kumar, S. and Kwon, J.Y. and Lam, E.T. and Lee, J.E. and Lee, J. and Lee, W.P. and Lee, S.P. and Li, S. and Marks, P. and Viaud-Martinez, K. and Meiers, S. and Munson, K.M. and Navarro, F.C.P. and Nelson, B.J. and Nodzak, C. and Noor, A. and Kyriazopoulou-Panagiotopoulou, S. and Pang, A.W.C. and Qiu, Y. and Rosanio, G. and Ryan, M. and Stütz, A. and Spierings, D.C.J. and Ward, A. and Welch, A.E. and Xiao, M. and Xu, W. and Zhang, C. and Zhu, Q. and Zheng-Bradley, X. and Lowy, E. and Yakneen, S. and McCarroll, S. and Jun, G. and Ding, L. and Koh, C.L. and Ren, B. and Flicek, P. and Chen, K. and Gerstein, M.B. and Kwok, P.Y. and Lansdorp, P.M. and Marth, G.T. and Sebat, J. and Shi, X. and Bashir, A. and Ye, K. and Devine, S.E. and Talkowski, M.E. and Mills, R.E. and Marschall, T. and Korbel, J.O. and Eichler, E.E. and Lee, C. Nature Communications 10 (1): 1784. 16 April 2019
الإتاحة: https://doi.org/10.1038/s41467-018-08148-zTest
http://edoc.mdc-berlin.de/19627Test/
https://edoc.mdc-berlin.de/19627Test/
http://edoc.mdc-berlin.de/19627/1/19627oa.pdfTest
http://edoc.mdc-berlin.de/19627/2/19627suppl.zipTest -
7دورية 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
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8تقرير
المؤلفون: Breuss, M. W., Antaki, D., George, R. D., Kleiber, M., James, K. N., Ball, L. L., Hong, O., Mitra, I., Yang, X., Wirth, S. A., Gu, J., Garcia, C. A. B., Gujral, M., Brandler, W. M., Musaev, D., Nguyen, A., McEvoy-Venneri, J., Knox, R., Sticca, E., Botello, M. C. C., Uribe Fenner, J., Perez, M. C., Arranz, M., Moffitt, A. B., Wang, Z., Hervas, A., Devinsky, O., Gymrek, M., Sebat, J., Gleeson, J. G.
مصطلحات موضوعية: autism, de novo mutation, whole genome sequencing, anthro-se, psy
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9دورية أكاديمية
المؤلفون: Altshuler, DM, Durbin, RM, Abecasis, GR, Bentley, DR, Chakravarti, A, Clark, AG, Donnelly, P, Eichler, EE, Flicek, P, Gabriel, SB, Gibbs, RA, Lienhard, M, Mertes, F, Sultan, M, Timmermann, B, Yaspo, M-L, Mardis, ER, Wilson, RK, Fulton, L, Fulton, R, Sherry, ST, Green, ED, Ananiev, V, Belaia, Z, Beloslyudtsev, D, Bouk, N, Chen, C, Church, D, Cohen, R, Cook, C, Garner, J, Hefferon, T, Hurles, ME, Kimelman, M, Liu, C, Lopez, J, Meric, P, O'Sullivan, C, Ostapchuk, Y, Phan, L, Ponomarov, S, Schneider, V, Shekhtman, E, Knoppers, BM, Sirotkin, K, Slotta, D, Zhang, H, McVean, GA, Balasubramaniam, S, Burton, J, Danecek, P, Keane, TM, Kolb-Kokocinski, A, Korbel, JO, McCarthy, S, Stalker, J, Quail, M, Schmidt, JP, Davies, CJ, Gollub, J, Webster, T, Wong, B, Zhan, Y, Auton, A, Lander, ES, Campbell, CL, Kong, Y, Marcketta, A, Yu, F, Antunes, L, Bainbridge, M, Muzny, D, Sabo, A, Huang, Z, Lee, C, Wang, J, Coin, LJM, Fang, L, Guo, X, Jin, X, Li, G, Li, Q, Li, Y, Li, Z, Lin, H, Lehrach, 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, Marth, GT, 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, Gupta, N, Li, H, Kashin, S, McCarroll, SA, Nemesh, JC, Poplin, RE, Yoon, SC, Lihm, J, Makarov, V, Nickerson, DA, Gottipati, S, Keinan, A, Rodriguez-Flores, JL, Rausch, T, Fritz, MH, Stuetz, AM, Beal, K, Clarke, L, Datta, A, Herrero, J, McLaren, WM, Ritchie, GRS, Smith, RE, Zerbino, D, Zheng-Bradley, X, Sabeti, PC, Shlyakhter, I, Schaffner, SF, Vitti, J, Cooper, DN, Ball, EV, Stenson, PD, Barnes, B, Bauer, M, Cheetham, RK, Cox, A, Eberle, M, Humphray, S, Kahn, S, Murray, L, Peden, J, Shaw, R, Kenny, EE, Batzer, MA, Konkel, MK, Walker, JA, MacArthur, DG, Lek, M, Sudbrak, R, Amstislavskiy, VS, 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, Boerwinkle, E, Bustamante, CD, Montgomery, SB, De La Vega, FM, Byrnes, JK, Carroll, AW, DeGorter, MK, Lacroute, P, Maples, BK, Martin, AR, Moreno-Estrada, A, Doddapaneni, H, Shringarpure, SS, Zakharia, F, Halperin, E, Baran, Y, Cerveira, E, Hwang, J, Malhotra, A, Plewczynski, D, Radew, K, Han, Y, Romanovitch, M, Zhang, C, Hyland, FCL, Craig, DW, Christoforides, A, Homer, N, Izatt, T, Kurdoglu, AA, Sinari, SA, Squire, K, Korchina, V, Xiao, C, Sebat, J, Antaki, D, Gujral, M, Noor, A, Burchard, EG, Hernandez, RD, Gignoux, CR, Kovar, C, Haussler, D, Katzman, SJ, Kent, WJ, Howie, B, Ruiz-Linares, A, Dermitzakis, ET, Devine, SE, Goncalo, RA, Kang, HM, Kidd, JM, Lee, S, 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, Reid, JG, Shi, X, Quitadamo, A, Lunter, G, Marchini, JL, Myers, S, Churchhouse, C, Delaneau, O, Gupta-Hinch, A, Zhu, Y, Kretzschmar, W, Iqbal, Z, Mathieson, I, Menelaou, A, Rimmer, A, Xifara, DK, Oleksyk, TK, Fu, Y, Liu, X, Xiong, M, Jorde, L, Witherspoon, D, Xing, J, Browning, BL, Browning, SR, Hormozdiari, F, Sudmant, PH, Khurana, E, Chang, Y, Tyler-Smith, C, Albers, CA, Ayub, Q, Chen, Y, Colonna, V, Jostins, L, Feng, Q, Walter, K, Xue, Y, Gerstein, MB, Abyzov, A, Balasubramanian, S, Chen, J, Clarke, D, Harmanci, AO, Fang, X, Jin, M, Lee, D, Liu, J, Mu, XJ, Zhang, J, Zhang, Y, Jian, M, Del Angel, G, Hartl, C, Shakir, K, Jiang, H, Degenhardt, J, Meiers, S, Raeder, B, Casale, FP, Stegle, O, Lan, T, Lameijer, E-W, Hall, I, Li, J, Bafna, V, Michaelson, J, Gardner, EJ, Mills, RE, Dayama, G, Liu, S, Chen, K, Fan, X, Chong, Z, Chen, T, Chaisson, MJ, Huddleston, J, Malig, M, Nelson, BJ, Parrish, NF, Blackburne, B, Lindsay, SJ, Ning, Z, Lu, Y, Lam, H, Sisu, C, Ma, X, Challis, D, Evani, US, Lu, J, Nagaswamy, U, Tang, M, Yu, J, Li, W, Wu, R, Wang, B, Wang, G, Wu, H, Habegger, L, Yu, H, Cunningham, F, Dunham, I, Lage, K, Xu, X, Jespersen, JB, Horn, H, Yin, Y, Kim, D, Desalle, R, Narechania, A, Sayres, MAW, Zhang, D, Zhang, W, Mendez, FL, Poznik, GD, Underhill, PA, Coin, L, Zhao, J, Mittelman, D, Banerjee, R, Cerezo, M, Fitzgerald, T, Louzada, S, Massaia, A, Zhao, M, Ritchie, GR, Yang, F, Kalra, D, Hale, W, Zheng, X, Dan, X, Albrecht, MW, Barnes, KC, Beiswanger, C, Cai, H, Cao, H, Gerry, NP, Gharani, N, Henn, B, Jones, D, Kaye, JS, Kent, A, Kerasidou, A, Mathias, R, Ossorio, PN, Parker, M, Toji, LH, Resch, AM, 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, Barker, J, 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, Gil, L, Gallo, C, Poletti, G, Saleheen, D, Rasheed, A, Brook, LD, Felsenfeld, A, McEwen, JE, Vaydylevich, Y, Duncanson, A, Hunt, SE, Dunn, M, Schloss, JA, Brooks, LD, Kelman, G, Kulesha, E, Leinonen, R, Radhakrishnan, R, Roa, A, Smirnov, D, Streeter, I, Thormann, A, Toneva, I, Vaughan, B, Grocock, R, James, T, Kingsbury, Z, Borodina, TA
مصطلحات موضوعية: Science & Technology, Multidisciplinary Sciences, Science & Technology - Other Topics, GENOME-WIDE ASSOCIATION, COMPLEMENT FACTOR-H, MACULAR DEGENERATION, POPULATION HISTORY, BAYES FACTORS, MUTATION, DISEASE, VARIANT, SUSCEPTIBILITY, INDIVIDUALS
وصف الملف: 68 - + (20)
العلاقة: NATURE; NATURE, 2015, 526 (7571), pp. 68 - + (20); http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000362095100036&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=f12c8c83318cf2733e615e54d9ed7ad5Test; http://bura.brunel.ac.uk/handle/2438/14924Test; http://dx.doi.org/10.1038/nature15393Test
الإتاحة: https://doi.org/10.1038/nature15393Test
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000362095100036&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=f12c8c83318cf2733e615e54d9ed7ad5Test
http://bura.brunel.ac.uk/handle/2438/14924Test -
10دورية أكاديمية
المؤلفون: Mori, M., Kovalenko, L., Lyonnais, S., Antaki, D., Torbett, B.E., Botta, M., Mirambeau, G., Mely, Y.
المساهمون: Laboratoire de Biophotonique et Pharmacologie - UMR 7213 (LBP), Centre National de la Recherche Scientifique (CNRS)-Réseau nanophotonique et optique, Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Centre National de la Recherche Scientifique (CNRS)
المصدر: ISSN: 0070-217X ; Current Topics in Microbiology and Immunology ; https://hal.science/hal-01186130Test ; Current Topics in Microbiology and Immunology, 2015, 389, pp.53-92. ⟨10.1007/82_2015_433⟩.
مصطلحات موضوعية: [SDV]Life Sciences [q-bio]
العلاقة: hal-01186130; https://hal.science/hal-01186130Test; PUBMEDCENTRAL: PMC7122173
