Zobrazeno 1 - 10
of 3 626
pro vyhledávání: '"Humphray S"'
Autor:
Schwerd, T., Bryant, R. V., Pandey, S., Capitani, M., Meran, L., Cazier, J. -B., Jung, J., Mondal, K., Parkes, M., Mathew, C. G., Fiedler, K., McCarthy, D. J., Sullivan, P. B., Rodrigues, A., Travis, S. P. L., Moore, C., Sambrook, J., Ouwehand, W. H., Roberts, D. J., Danesh, J., Russell, R. K., Wilson, D. C., Kelsen, J. R., Cornall, R., Denson, L. A., Kugathasan, S., Knaus, U. G., Serra, E. G., Anderson, C. A., Duerr, R. H., McGovern, D. P. B., Cho, J., Powrie, Fiona, Li, V. S. W., Muise, A. M., Uhlig, H. H., Donnelly, P., Bell, J., Bentley, D., McVean, G., Ratcliffe, P., Taylor, J., Wilkie, A. O. M., Broxholme, J., Buck, D., Gregory, L., Gregory, J., Lunter, G., Tomlinson, I., Allan, C., Attar, M., Green, A., Humphray, S., Kingsbury, Z., Lamble, S., Lonie, L., Pagnamenta, A., Piazza, P., Polanco, G., Trebes, A., Copley, R., Fiddy, S., Grocock, R., Hatton, E., Holmes, C., Hughes, L., Humburg, P., Kanapin, A., Lise, S., Martin, H., Murray, L., McCarthy, D., Rimmer, A., Sahgal, N., Wright, B., Yau, C., Arancibia, Carolina, Bailey, Adam, Barnes, Ellie, Bird-Lieberman, Beth, Brain, Oliver, Braden, Barbara, Collier, Jane, East, James, Geremia, Alessandra, Howarth, Lucy, Keshav, Satish, Klenerman, Paul, Leedham, Simon, Palmer, Rebecca, Rodrigues, Astor, Simmons, Alison, Sullivan, Peter B, Travis, Simon P L, Uhlig, Holm H, Heuschkel, Rob, Zilbauer, Matthias, Auth, Marcus K. H., Shah, Neil, Kammermeier, Jochen, Croft, Nick, Barakat, Farah, Russell, Richard K., Wilson, David C., Henderson, Paul, Braegger, Christian P., Posovszky, Carsten, Fyderek, Krzysztof, Wedrychowicz, Andrzej, Zurek, Marlen, Strisciuglio, Caterina, Elawad, Mamoun, Lo, Bernice, Parkes, Miles, Satsangi, Jack, Anderson, Carl A., Jostins, L., Kennedy, N. A., Lamb, C. A., Ahmad, T., Edwards, C., Hart, A., Hawkey, C., Mansfield, J. C., Mowat, C., Newman, W. G., Satsangi, J., Simmons, A., Tremelling, M., Lee, J. C., Prescott, N. J., Lees, C. W., Barrett, J. C., UK IBD Genetics Consortium, COLORS in IBD, Oxford IBD cohort study investigators, WGS500 Consortium, INTERVAL Study
Publikováno v:
Mucosal immunology
Genetic defects that affect intestinal epithelial barrier function can present with very early-onset inflammatory bowel disease (VEOIBD). Using whole-genome sequencing, a novel hemizygous defect in NOX1 encoding NAPDH oxidase 1 was identified in a pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::f05c71c8aab509afde76cc90cff3c8fe
http://hdl.handle.net/11591/403869
http://hdl.handle.net/11591/403869
Autor:
Raiber, EA, Beraldi, D, Martinez Cuesta, S, McInroy, GR, Kingsbury, Z, Becq, J, James, T, Lopes, M, Allinson, K, Field, S, Humphray, S, Santarius, T, Watts, C, Bentley, D, Balasubramanian, S
Publikováno v:
npj Genomic Medicine, Vol 2, Iss 1, Pp 1-7 (2017)
NPJ Genomic Medicine
NPJ Genomic Medicine
Aberrant genetic and epigenetic variations drive malignant transformation and are hallmarks of cancer. Using PCR-free sample preparation we achieved the first in-depth whole genome (hydroxyl)-methylcytosine, single-base-resolution maps from a gliobla
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe18d1b4f2311d14d1bdf7be5898599f
https://www.repository.cam.ac.uk/handle/1810/262742
https://www.repository.cam.ac.uk/handle/1810/262742
Autor:
Palles, C, Cazier, J, Howarth, K, Domingo, E, Jones, A, Broderick, P, Kemp, Z, Spain, S, Almeida, E, Salguero, I, Sherborne, A, Chubb, D, Carvajal-Carmona, L, Ma, Y, Kaur, K, Dobbins, S, Barclay, E, Gorman, M, Martin, L, Kovac, M, Humphray, S, Lucassen, A, Holmes, C, Bentley, D, Donnelly, P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1064::b80e5d6b1166f66d21d6ddc94d3f6032
https://ora.ox.ac.uk/objects/uuid:21508474-9fb8-4345-b536-dd0004de42ab
https://ora.ox.ac.uk/objects/uuid:21508474-9fb8-4345-b536-dd0004de42ab
Autor:
Lander, ES, Linton, LM, Birren, B, Nusbaum, C, Zody, MC, Baldwin, J, Devon, K, Dewar, K, Doyle, M, FitzHugh, W, Funke, R, Gage, D, Harris, K, Heaford, A, Howland, J, Kann, L, Lehoczky, J, LeVine, R, McEwan, P, McKernan, K, Meldrim, J, Mesirov, JP, Miranda, C, Morris, W, Naylor, J, Raymond, C, Rosetti, M, Santos, R, Sheridan, A, Sougnez, C, Stange-Thomann, N, Stojanovic, N, Subramanian, A, Wyman, D, Rogers, J, Sulston, J, Ainscough, R, Beck, S, Bentley, D, Burton, J, Clee, C, Carter, N, Coulson, A, Deadman, R, Deloukas, P, Dunham, A, Dunham, I, Durbin, R, French, L, Grafham, D, Gregory, S, Hubbard, T, Humphray, S, Hunt, A, Jones, M, Lloyd, C, McMurray, A, Matthews, L, Mercer, S, Milne, S, Mullikin, JC, Mungall, A, Plumb, R, Ross, M, Shownkeen, R, Sims, S, Waterston, RH, Wilson, RK, Hillier, LW, McPherson, JD, Marra, MA, Mardis, ER, Fulton, LA, Chinwalla, AT, Pepin, KH, Gish, WR, Chissoe, SL, Wendl, MC, Delehaunty, KD, Miner, TL, Delehaunty, A, Kramer, JB, Cook, LL, Fulton, RS, Johnson, DL, Minx, PJ, Clifton, SW, Hawkins, T, Branscomb, E, Predki, P, Richardson, P, Wenning, S, Slezak, T, Doggett, N, Cheng, JF, Olsen, A, Lucas, S, Elkin, C, Uberbacher, E, Frazier, M, Gibbs, RA, Muzny, DM, Scherer, SE, Bouck, JB, Sodergren, EJ, Worley, KC, Rives, CM, Gorrell, JH, Metzker, ML, Naylor, SL, Kucherlapati, RS, Nelson, DL, Weinstock, GM, Sakaki, Y, Fujiyama, A, Hattori, M, Yada, T, Toyoda, A, Itoh, T, Kawagoe, C, Watanabe, H, Totoki, Y, Taylor, T, Weissenbach, J, Heilig, R, Saurin, W, Artiguenave, F, Brottier, P, Bruls, T, Pelletier, E, Robert, C, Wincker, P, Smith, DR, Doucette-Stamm, L, Rubenfield, M, Weinstock, K, Lee, HM, Dubois, J, Rosenthal, A, Platzer, M, Nyakatura, G, Taudien, S, Rump, A, Yang, H, Yu, J, Wang, J, Huang, G, Gu, J, Hood, L, Rowen, L, Madan, A, Qin, S, Davis, RW, Federspiel, NA, Abola, AP, Proctor, MJ, Myers, RM, Schmutz, J, Dickson, M, Grimwood, J, Cox, DR, Olson, MV, Kaul, R, Shimizu, N, Kawasaki, K, Minoshima, S, Evans, GA, Athanasiou, M, Schultz, R, Roe, BA, Chen, F, Pan, H, Ramser, J, Lehrach, H, Reinhardt, R, McCombie, WR, de la Bastide, M, Dedhia, N, Blöcker, H, Hornischer, K, Nordsiek, G, Agarwala, R, Aravind, L, Bailey, JA, Bateman, A, Batzoglou, S, Birney, E, Bork, P, Brown, DG, Burge, CB, Cerutti, L, Chen, HC, Church, D, Clamp, M, Copley, RR, Doerks, T, Eddy, SR, Eichler, EE, Furey, TS, Galagan, J, Gilbert, JG, Harmon, C, Hayashizaki, Y, Haussler, D, Hermjakob, H, Hokamp, K, Jang, W, Johnson, LS, Jones, TA, Kasif, S, Kaspryzk, A, Kennedy, S, Kent, WJ, Kitts, P, Koonin, EV, Korf, I, Kulp, D, Lancet, D, Lowe, TM, McLysaght, A, Mikkelsen, T, Moran, JV, Mulder, N, Pollara, VJ, Ponting, CP, Schuler, G, Schultz, J, Slater, G, Smit, AF, Stupka, E, Szustakowski, J, Thierry-Mieg, D, Thierry-Mieg, J, Wagner, L, Wallis, J, Wheeler, R, Williams, A, Wolf, YI, Wolfe, KH, Yang, SP, Yeh, RF, Collins, F, Guyer, MS, Peterson, J, Felsenfeld, A, Wetterstrand, KA, Patrinos, A, Morgan, MJ, de Jong, P, Catanese, JJ, Osoegawa, K, Shizuya, H, Choi, S, Chen, YJ, Szustakowki, J
Publikováno v:
ResearcherID
The human genome holds an extraordinary trove of information about human development, physiology, medicine and evolution. Here we report the results of an international collaboration to produce and make freely available a draft sequence of the human
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c279516311a003cd472ea5e75cf1430
https://doi.org/10.1038/35057062
https://doi.org/10.1038/35057062
Autor:
Kumar, Vikrant1 (AUTHOR), Tomar, Anil Kumar1 (AUTHOR), Thapliyal, Ayushi1 (AUTHOR), Yadav, Savita1 (AUTHOR) savita11@gmail.com, Indurthi, Dinesh1 (AUTHOR)
Publikováno v:
Biochemistry Research International. 9/13/2024, Vol. 2024, p1-17. 17p.
Autor:
Disner, Geonildo Rodrigo1,2 (AUTHOR) emma.wincent@ki.se, Fernandes, Thales Alves de Melo3 (AUTHOR) thales.fernandes.esib@esib.butantan.gov.br, Nishiyama-Jr, Milton Yutaka3 (AUTHOR) milton.nishiyama@butantan.gov.br, Lima, Carla1 (AUTHOR) carla.lima@butantan.gov.br, Wincent, Emma2 (AUTHOR), Lopes-Ferreira, Monica1 (AUTHOR) monica.lopesferreira@butantan.gov.br
Publikováno v:
Pharmaceuticals (14248247). Sep2024, Vol. 17 Issue 9, p1155. 21p.
Autor:
Nam, Sang-Eun1 (AUTHOR), Bae, Dae-Yeul2 (AUTHOR) bdy@eco-net.co.kr, Rhee, Jae-Sung1,3,4 (AUTHOR) jsrhee@inu.ac.kr
Publikováno v:
Diversity (14242818). Sep2024, Vol. 16 Issue 9, p529. 11p.
Autor:
Li, Xue1 (AUTHOR) leexue@nwafu.edu.cn, Jiang, Haixin1 (AUTHOR) 2544945256@nwafu.edu.cn, Guo, Dongxue1 (AUTHOR) xbnlgdx@nwafu.edu.cn, Huang, Wen1 (AUTHOR) huangwen0913@nwafu.edu.cn, Ren, Houpu2 (AUTHOR) renhoupu@nwafu.edu.cn, Zhang, Qiang1 (AUTHOR) zhangq@nwsuaf.edu.cn
Publikováno v:
International Journal of Molecular Sciences. Aug2024, Vol. 25 Issue 16, p8985. 16p.
Autor:
Zhang, Baidong1 zhangbaidong@qau.edu.cn, Sun, Yanling1 201901116@qau.edu.cn, Liu, Yang1 liuyangqzh@qau.edu.cn, Song, Xiaojun1 songxiaojun@qau.edu.cn, Wang, Su1 suwang@qau.edu.cn, Xiao, Tiaoyi2 tyxiao1128@163.com, Nie, Pin1 pinnie@qau.edu.cn
Publikováno v:
Fishes (MDPI AG). Aug2024, Vol. 9 Issue 8, p327. 16p.
Autor:
Risato, Giovanni1,2,3 (AUTHOR) giovanni.risato@unipd.it, Brañas Casas, Raquel2 (AUTHOR), Cason, Marco1 (AUTHOR) marco.cason@unipd.it, Bueno Marinas, Maria1 (AUTHOR) maria.buenomarinas@unipd.it, Pinci, Serena1 (AUTHOR) serena.pinci@studenti.unipd.it, De Gaspari, Monica1 (AUTHOR) monica.degaspari@unipd.it, Visentin, Silvia3 (AUTHOR), Rizzo, Stefania1 (AUTHOR) s.rizzo@unipd.it, Thiene, Gaetano1 (AUTHOR) gaetano.thiene@unipd.it, Basso, Cristina1 (AUTHOR) cristina.basso@unipd.it, Pilichou, Kalliopi1 (AUTHOR) kalliopi.pilichou@unipd.it, Tiso, Natascia2 (AUTHOR) natascia.tiso@unipd.it, Celeghin, Rudy1 (AUTHOR) rudy.celeghin@unipd.it
Publikováno v:
Cells (2073-4409). Aug2024, Vol. 13 Issue 15, p1264. 27p.