المؤلفون: Fernandez-Rozadilla, C, Timofeeva, M, Chen, Z, Law, P, Thomas, M, Schmit, S, Díez-Obrero, V, Hsu, L, Fernandez-Tajes, J, Palles, C, Sherwood, K, Briggs, S, Svinti, V, Donnelly, K, Farrington, S, Blackmur, J, Vaughan-Shaw, P, Shu, XO, Long, J, Cai, Q, Guo, X, Lu, Y, Broderick, P, Studd, J, Huyghe, J, Harrison, T, Conti, D, Dampier, C, Devall, M, Schumacher, F, Melas, M, Rennert, G, Obón-Santacana, M, Martín-Sánchez, V, Moratalla-Navarro, F, Oh, JH, Kim, J, Jee, SH, Jung, KJ, Kweon, SS, Shin, MH, Shin, A, Ahn, YO, Kim, DH, Oze, I, Wen, W, Matsuo, K, Matsuda, K, Tanikawa, C, Ren, Z, Gao, YT, Jia, WH, Hopper, J, Jenkins, M, Win, AK, Pai, R, Figueiredo, J, Haile, R, Gallinger, S, Woods, M, Newcomb, P, Duggan, D, Cheadle, J, Kaplan, R, Maughan, T, Kerr, R, Kerr, D, Kirac, I, Böhm, J, Mecklin, LP, Jousilahti, P, Knekt, P, Aaltonen, L, Rissanen, H, Pukkala, E, Eriksson, J, Cajuso, T, Hänninen, U, Kondelin, J, Palin, K, Tanskanen, T, Renkonen-Sinisalo, L, Zanke, B, Männistö, S, Albanes, D, Weinstein, S, Ruiz-Narvaez, E, Palmer, J, Buchanan, D, Platz, E, Visvanathan, K, Ulrich, C, Siegel, E, Brezina, S, Gsur, A, Campbell, P, Chang-Claude, J, Hoffmeister, M, Brenner, H, Slattery, M, Potter, J, Tsilidis, K, Schulze, M, Gunter, M, Murphy, N, Castells, A, Castellví-Bel, S, Moreira, L, Arndt, V, Shcherbina, A, Stern, M, Pardamean, B, Bishop, T, Giles, G, Southey, M, Idos, G, McDonnell, K, Abu-Ful, Z, Greenson, J, Shulman, K, Lejbkowicz, F, Offit, K, Su, YR, Steinfelder, R, Keku, T, van Guelpen, B, Hudson, T, Hampel, H, Pearlman, R, Berndt, S, Hayes, R, Martinez, ME, Thomas, S, Corley, D, Pharoah, P, Larsson, S, Yen, Y, Lenz, HJ, White, E, Li, L, Doheny, K, Pugh, E, Shelford, T, Chan, A, Cruz-Correa, M, Lindblom, A, Hunter, D, Joshi, A, Schafmayer, C, Scacheri, P, Kundaje, A, Nickerson, D, Schoen, R, Hampe, J, Stadler, Z, Vodicka, P, Vodickova, L, Vymetalkova, V, Papadopoulos, N, Edlund, C, Gauderman, W, Thomas, D, Shibata, D, Toland, A, Markowitz, S, Kim, A, Chanock, S, van Duijnhoven, F, Feskens, E, Sakoda, L, Gago-Dominguez, M, Wolk, A, Naccarati, A, Pardini, B, FitzGerald, L, Lee, SC, Ogino, S, Bien, S, Kooperberg, C, Li, C, Lin, Y, Prentice, R, Qu, C, Bézieau, S, Tangen, C, Mardis, E, Yamaji, T, Sawada, N, Iwasaki, M, Haiman, C, Le Marchand, L, Wu, A, McNeil, C, Coetzee, G, Hayward, C, Deary, I, Harris, S, Theodoratou, E, Reid, S, Walker, M, Ooi, LY, Moreno, V, Casey, G, Gruber, S, Tomlinson, I, Zheng, W, Dunlop, M, Houlston, R, Peters, U

المصدر: Nature genetics. 55(1):89-99

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:236539618

المؤلفون: Fernandez-Rozadilla, C, Timofeeva, M, Chen, ZS, Law, P, Thomas, M, Schmit, S, Diez-Obrero, V, Hsu, L, Fernandez-Tajes, J, Palles, C, Sherwood, K, Briggs, S, Svinti, V, Donnelly, K, Farrington, S, Blackmur, J, Vaughan-Shaw, P, Shu, XO, Long, JR, Cai, QY, Guo, XY, Lu, YC, Broderick, P, Studd, J, Huyghe, J, Harrison, T, Conti, D, Dampier, C, Devall, M, Schumacher, F, Melas, M, Rennert, G, Obon-Santacana, M, Martin-Sanchez, V, Moratalla-Navarro, F, Oh, JH, Kim, J, Jee, SH, Jung, KJ, Kweon, SS, Shin, MH, Shin, A, Ahn, YO, Kim, DH, Oze, I, Wen, WQ, Matsuo, K, Matsuda, K, Tanikawa, C, Ren, ZF, Gao, YT, Jia, WH, Hopper, J, Jenkins, M, Win, AK, Pai, R, Figueiredo, J, Haile, R, Gallinger, S, Woods, M, Newcomb, P, Duggan, D, Cheadle, J, Kaplan, R, Maughan, T, Kerr, R, Kerr, D, Kirac, I, Bohm, J, Mecklin, LP, Jousilahti, P, Knekt, P, Aaltonen, L, Rissanen, H, Pukkala, E, Eriksson, J, Cajuso, T, Hanninen, U, Kondelin, J, Palin, K, Tanskanen, T, Renkonen-Sinisalo, L, Zanke, B, Mannisto, S, Albanes, D, Weinstein, S, Ruiz-Narvaez, E, Palmer, J, Buchanan, D, Platz, E, Visvanathan, K, Ulrich, C, Siegel, E, Brezina, S, Gsur, A, Campbell, P, Chang-Claude, J, Hoffmeister, M, Brenner, H, Slattery, M, Potter, J, Tsilidis, K, Schulze, M, Gunter, M, Murphy, N, Castells, A, Castellvi-Bel, S, Moreira, L, Arndt, V, Shcherbina, A, Stern, M, Pardamean, B, Bishop, T, Giles, G, Southey, M, Idos, G, McDonnell, K, Abu-Ful, Z, Greenson, J, Shulman, K, Lejbkowicz, F, Offit, K, Su, YR, Steinfelder, R, Keku, T, van Guelpen, B, Hudson, T, Hampel, H, Pearlman, R, Berndt, S, Hayes, R, Martinez, ME, Thomas, S, Corley, D, Pharoah, P, Larsson, S, Yen, Y, Lenz, HJ, White, E, Li, L, Doheny, K, Pugh, E, Shelford, T, Chan, A, Cruz-Correa, M, Lindblom, A, Hunter, D, Joshi, A, Schafmayer, C, Scacheri, P, Kundaje, A, Nickerson, D, Schoen, R, Hampe, J, Stadler, Z, Vodicka, P, Vodickova, L, Vymetalkova, V, Papadopoulos, N, Edlund, C, Gauderman, W, Thomas, D, Shibata, D, Toland, A, Markowitz, S, Kim, A, Chanock, S, van Duijnhoven, F, Feskens, E, Sakoda, L, Gago-Dominguez, M, Wolk, A, Naccarati, A, Pardini, B, FitzGerald, L, Lee, SC, Ogino, S, Bien, S, Kooperberg, C, Li, C, Lin, Y, Prentice, R, Qu, CH, Bezieau, S, Tangen, C, Mardis, E, Yamaji, T, Sawada, N, Iwasaki, M, Haiman, C, Le Marchand, L, Wu, AN, Qu, CX, McNeil, C, Coetzee, G, Hayward, C, Deary, I, Harris, S, Theodoratou, E, Reid, S, Walker, M, Ooi, L, Moreno, V, Casey, G, Gruber, S, Tomlinson, I, Zheng, W, Dunlop, M, Houlston, R, Peters, U

المصدر: Nature genetics. 55(3):519-520

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:152082645

المؤلفون: Hunter, P., de Bono, B., Brooks, D., Christie, R., Hussan, J., Lin, M., Nickerson, D.

المصدر: IEEE Reviews in Biomedical Engineering; 2025, Vol. 18, p300-315, 16p

المؤلفون: Niarakis, A, Waltemath, D, Glazier, J, Schreiber, F, Keating, SM, Nickerson, D, Chaouiya, C, Siegel, A, Noël, V, Hermjakob, H, Helikar, T, Soliman, S, Calzone, L

المصدر: Briefings in Bioinformatics , 23 (4) , Article bbac212. (2022)

مصطلحات موضوعية: Community standards, computational modelling, model annotations, reproducibility, systems biology, Computational Biology, Computer Simulation, Reproducibility of Results

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10158980/1/Addressing%20barriers%20in%20comprehensiveness,%20accessibility,%20reusability,%20interoperability%20and%20reproducibility%20of%20computational%20.pdf; https://discovery.ucl.ac.uk/id/eprint/10158980/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10158980/1/Addressing%20barriers%20in%20comprehensiveness,%20accessibility,%20reusability,%20interoperability%20and%20reproducibility%20of%20computational%20.pdf
https://discovery.ucl.ac.uk/id/eprint/10158980/

المؤلفون: Al-Jawahiri, R, Foroutan, A, Kerkhof, J, McConkey, H, Levy, M, Haghshenas, S, Rooney, K, Turner, J, Shears, D, Holder, M, Lefroy, H, Castle, B, Reis, LM, Semina, EV, Lachlan, K, Chandler, K, Wright, T, Clayton-Smith, J, Hug, FP, Pitteloud, N, Bartoloni, L, Hoffjan, S, Park, S-M, Thankamony, A, Lees, M, Wakeling, E, Naik, S, Hanker, B, Girisha, KM, Agolini, E, Giuseppe, Z, Alban, Z, Tessarech, M, Keren, B, Afenjar, A, Zweier, C, Reis, A, Smol, T, Tsurusaki, Y, Nobuhiko, O, Sekiguchi, F, Tsuchida, N, Matsumoto, N, Kou, I, Yonezawa, Y, Ikegawa, S, Callewaert, B, Freeth, M, Kleinendorst, L, Donaldson, A, Alders, M, De Paepe, A, Sadikovic, B, McNeill, A, Nickerson, D, Bamshad, M, Leal, S, Ambrose, JC, Arumugam, P, Bevers, R, Bleda, M, Boardman-Pretty, F, Boustred, CR, Brittain, H, Caulfield, MJ, Chan, GC, Elgar, G, Fowler, T, Giess, A, Hamblin, A, Henderson, S, Hubbard, TJP, Jackson, R, Jones, LJ, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Leigh, SEA, Leong, IUS, Lopez, JF, FionaMaleady-Crowe, McEntagart, M, Minneci, F, Moutsianas, L, Mueller, M, Murugaesu, N, Need, AC, O’Donovan, P, Odhams, CA, Patch, C, Pereira, MB, Perez-Gil, D, Pullinger, J, TahrimaRahim, Rendon, A, TimRogers, Savage, K, Sawant, K, Scott, RH, Siddiq, A, Sieghart, A, Smith, SC, Sosinsky, A, Stuckey, A, Tanguy, M, Taylor Tavares, AL, Thomas, ERA, Thompson, SR, Tucci, A, Welland, MJ, Williams, E, Witkowska, K, Wood, SM

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/190170/1/Al-Jawahiri%20et%20al.%202022.pdf; Al-Jawahiri, R orcid.org/0000-0002-5689-3368 , Foroutan, A, Kerkhof, J et al. (111 more authors) (2022) SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile. Genetics in Medicine, 24 (6). pp. 1261-1273. ISSN 1098-3600

الاتاحة: https://eprints.whiterose.ac.uk/190170/
https://eprints.whiterose.ac.uk/190170/1/Al-Jawahiri%20et%20al.%202022.pdf

المؤلفون: Natarajan, P. (Pradeep), Pampana, A. (Akhil), Graham, S. E. (Sarah E.), Ruotsalainen, S. E. (Sanni E.), Perry, J. A. (James A.), de Vries, P. S. (Paul S.), Broome, J. G. (Jai G.), Pirruccello, J. P. (James P.), Honigbere, M. C. (Michael C.), Aragam, K. (Krishna), Wolford, B. (Brooke), Brody, J. A. (Jennifer A.), Antonacci-Fulton, L. (Lucinda), Arden, M. (Moscati), Aslibekyan, S. (Stella), Assimes, T. L. (Themistocles L.), Ballantyne, C. M. (Christie M.), Bielak, L. F. (Lawrence F.), Bisl, J. C. (Joshua C.), Cade, B. E. (Brian E.), Do, R. (Ron), Doddapaneni, H. (Harsha), Emery, L. S. (Leslie S.), Hung, Y.-J. (Yi-Jen), Irvin, M. R. (Marguerite R.), Khan, A. T. (Alyna T.), Lange, L. (Leslie), Lee, J. (Jiwon), Lemaitre, R. N. (Rozenn N.), Martin, L. W. (Lisa W.), Metcalf, G. (Ginger), Montasser, M. E. (May E.), Moon, J.-Y. (Jee-Young), Muzny, D. (Donna), Connell, J. R. (Jeffrey R. O.), Palmer, N. D. (Nicholette D.), Peralta, J. M. (Juan M.), Peyser, P. A. (Patricia A.), Stilp, A. M. (Adrienne M.), Tsai, M. (Michael), Wang, F. F. (Fei Fei), Weeks, D. E. (Daniel E.), Yanek, L. R. (Lisa R.), Wilson, J. G. (James G.), Abecasis, G. (Goncalo), Arnett, D. K. (Donna K.), Becker, L. C. (Lewis C.), Blangercy, J. (John), Boerwinkle, E. (Eric), Bowden, D. W. (Donald W.), Chang, Y.-C. (Yi-Cheng), Chen, Y. I. (Yii-Der, I), Choi, W. J. (Won Jung), Correa, A. (Adolfo), Curran, J. E. (Joanne E.), Daly, M. J. (Mark J.), DutcherE, S. K. (Susan K.), Ellinor, P. T. (Patrick T.), Fornage, M. (Myriam), Freedman, B. I. (Barry, I), Gabriel, S. (Stacey), Germer, S. (Soren), Gibbs, R. A. (Richard A.), He, J. (Jiang), Hveem, K. (Kristian), Jarvik, G. P. (Gail P.), Kaplan, R. C. (Robert C.), Kardia, S. L. (Sharon L. R.), Kennyn, E. (Eimear), Kim, R. W. (Ryan W.), Kooperberg, C. (Charles), Laurie, C. C. (Cathy C.), Lee, S. (Seonwook), Lloyd-Jones, D. M. (Don M.), Loos, R. J. (Ruth J. F.), Lubitz, S. A. (Steven A.), Mathias, R. A. (Rasika A.), Martinez, K. A. (Karine A. Viaud), McGarvey, S. T. (Stephen T.), Mitche, B. D. (Braxton D.), Nickerson, D. A. (Deborah A.), North, K. E. (Kari E.), Palotie, A. (Aarno), Park, C. J. (Cheol Joo), Psat, B. M. (Bruce M. Y.), Rao, D. C. (D. C.), Redline, S. (Susan), Reiner, A. P. (Alexander P.), Seo, D. (Daekwan), Seo, J.-S. (Jeong-Sun), Smith, A. V. (Albert, V), Tracy, R. P. (Russell P.), Kathiresan, S. (Sekar), Cupples, L. A. (L. Adrienne), Rotten, J. I. (Jerome, I), Morrison, A. C. (Alanna C.), Rich, S. S. (Stephen S.), Ripatti, S. (Samuli), Wilier, C. (Cristen), Peloso, G. M. (Gina M.), Vasan, R. S. (Ramachandran S.), Abe, N. (Namiko), Albert, C. (Christine), Almasy, L. (Laura), Alonso, A. (Alvaro), Ament, S. (Seth), Anderson, P. (Peter), Applebaum-Bowden, D. (Deborah), Arking, D. (Dan), Ashley-Koch, A. (Allison), Auer, P. (Paul), Avramopoulos, D. (Dimitrios), Barnard, J. (John), Barnes, K. (Kathleen), Barr, R. G. (R. Graham), Barron-Casella, E. (Emily), Beaty, T. (Terri), Becker, D. (Diane), Beer, R. (Rebecca), Begum, F. (Ferdouse), Beitelshees, A. (Amber), Benjamin, E. (Emelia), Bezerra, M. (Marcos), Bielak, L. (Larry), Blackwel, T. (Thomas), Bowler, R. (Russell), Broecke, U. (Ulrich), Bunting, K. (Karen), Burchard, E. (Esteban), Buth, E. (Erin), Cardwel, J. (Jonathan), Carty, C. (Cara), Casaburi, R. (Richard), Casella, J. (James), Chaffin, M. (Mark), Chang, C. (Christy), Chasman, D. (Daniel), Chavan, S. (Sameer), Chen, B.-J. (Bo-Juen), Chen, W.-M. (Wei-Min), Chol, M. (Michael), Choi, S. H. (Seung Hoan), Chuang, L.-M. (Lee-Ming), Chung, M. (Mina), Conomos, M. P. (Matthew P.), Cornell, E. (Elaine), Crapo, J. (James), Curtis, J. (Jeffrey), Custer, B. (Brian), Damcott, C. (Coleen), Darbar, D. (Dawood), Das, S. (Sayantan), David, S. (Sean), Davis, C. (Colleen), Daya, M. (Michelle), de Andrade, M. (Mariza), DeBaunuo, M. (Michael), Duan, Q. (Qing), Devine, R. D. (Ranjan Deka Dawn DeMeo Scott), Duggirala, Q. R. (Qing Ravi), Durda, J. P. (Jon Peter), Dutcher, S. (Susan), Eaton, C. (Charles), Ekunwe, L. (Lynette), Farber, C. (Charles), Farnaml, L. (Leanna), Fingerlin, T. (Tasha), Flickinger, M. (Matthew), Franceschini, N. (Nora), Fu, M. (Mao), Fullerton, S. M. (Stephanie M.), Fulton, L. (Lucinda), Gan, W. (Weiniu), Gao, Y. (Yan), Gass, M. (Margery), Ge, B. (Bruce), Geng, X. P. (Xiaoqi Priscilla), Gignoux, C. (Chris), Gladwin, M. (Mark), Glahn, D. (David), Gogarten, S. (Stephanie), Gong, D.-W. (Da-Wei), Goring, H. (Harald), Gu, C. C. (C. Charles), Guan, Y. (Yue), Guo, X. (Xiuqing), Haessler, J. (Jeff), Hall, M. (Michael), Harris, D. (Daniel), Hawle, N. Y. (Nicola Y.), Heavner, B. (Ben), Heckbert, S. (Susan), Hernandez, R. (Ryan), Herrington, D. (David), Hersh, C. (Craig), Hidalgo, B. (Bertha), Hixson, J. (James), Hokanson, J. (John), Hong, E. (Elliott), Hoth, K. (Karin), Hsiung, C. A. (Chao Agnes), Huston, H. (Haley), Hwu, C. M. (Chii Min), Jackson, R. (Rebecca), Jain, D. (Deepti), Jaquish, C. (Cashell), Jhun, M. A. (Min A.), Johnsen, J. (Jill), Johnson, A. (Andrew), Johnson, C. (Craig), Johnston, R. (Rich), Jones, K. (Kimberly), Kang, H. M. (Hyun Min), Kaufman, L. (Laura), Kell, S. Y. (Shannon Y.), Kessler, M. (Michael), Kinney, G. (Greg), Konkle, B. (Barbara), Kramer, H. (Holly), Krauter, S. (Stephanie), Lange, C. (Christoph), Lange, E. (Ethan), Laurie, C. (Cecelia), LeBoff, M. (Meryl), Lee, S. S. (Seunggeun Shawn), Lee, W.-J. (Wen-Jane), LeFaive, J. (Jonathon), Levine, D. (David), Levy, D. (Dan), Lewis, J. (Joshua), Li, Y. (Yun), Lin, H. (Honghuang), Lin, K. H. (Keng Han), Lin, X. (Xihong), Liu, S. (Simin), Liu, Y. (Yongmei), Lunetta, K. (Kathryn), Luo, J. (James), Mahaney, M. (Michael), Make, B. (Barry), Manichaikul, A. (Ani), Mansonl, J. (JoAnn), Margolin, L. (Lauren), Mathai, S. (Susan), McArdle, P. (Patrick), Mcdonald, M.-L. (Merry-Lynn), McFarland, S. (Sean), McHugh, C. (Caitlin), Mei, H. (Hao), Meyers, D. A. (Deborah A.), Mikulla, J. (Julie), Min, N. (Nancy), Minear, M. (Mollie), Minster, R. L. (Ryan L.), Musani, S. (Solomon), Mwasongwe, S. (Stanford), Mychaleckyj, J. C. (Josyf C.), Nadkarni, G. (Girish), Naik, R. (Rakhi), Naseri, T. (Take), Nekhai, S. (Sergei), Nelson, S. C. (Sarah C.), Nickerson, D. (Deborah), Connell, J. O. (Jeff O.), Connor, T. O. (Tim O.), Ochs-Balcom, H. (Heather), Pankow, J. (James), Papanicolaou, G. (George), Parkerl, M. (Margaret), Parsa, A. (Afshin), Penchey, S. (Sara), Perez, M. (Marco), Peters, U. (Ulrike), Phillips, L. S. (Lawrence S.), Phillips, S. (Sam), Pollin, T. (Toni), Post, W. (Wendy), Becker, J. P. (Julia Powers), Boorgula, M. P. (Meher Preethi), Preuss, M. (Michael), Prokopenko, D. (Dmitry), Qasba, P. (Pankaj), Qiao, D. (Dandi), Rafaels, N. (Nicholas), Raffield, L. (Laura), Rasmussen-Torvik, L. (Laura), Ratan, A. (Aakrosh), Reed, R. (Robert), Reganl, E. (Elizabeth), Reupena, M. S. (Muagututi Sefuiva), Rice, K. (Ken), Roden, D. (Dan), Roselli, C. (Carolina), Ruczinski, I. (Ingo), Russel, P. (Pamela), Ruuska, S. (Sarah), Ryan, K. (Kathleen), Sabino, E. C. (Ester Cerdeira), Sakornsakolpatl, P. (Phuwanat), Salzberg, S. (Steven), Sandow, K. (Kevin), Sankaran, V. G. (Vijay G.), Scheller, C. (Christopher), Schmidt, E. (Ellen), Schwander, K. (Karen), Schwartz, D. (David), Sciurba, F. (Frank), Seidman, C. (Christine), Seidman, J. (Jonathan), Sheehan, V. (Vivien), Shetty, A. (Amol), Shetty, A. (Aniket), Sheu, W. H. (Wayne Hui-Heng), Shoemaker, M. B. (M. Benjamin), Silver, B. (Brian), Silvermanl, E. (Edwin), Smith, J. (Jennifer), Smith, J. (Josh), Smith, N. (Nicholas), Smith, T. (Tanja), Smoller, S. (Sylvia), Snively, B. (Beverly), Soferlm, T. (Tamar), Streeten, E. (Elizabeth), Su, J. L. (Jessica Lasky), Sung, Y. J. (Yun Ju), Sylvia, J. (Jody), Sztalryd, C. (Carole), Taliun, D. (Daniel), Tang, H. (Hua), Taub, M. (Margaret), Taylor, K. D. (Kent D.), Taylor, S. (Simeon), Telen, M. (Marilyn), Thornton, T. A. (Timothy A.), Tinker, L. (Lesley), Tirschwel, D. (David), Tiwari, H. (Hemant), Vaidya, D. (Dhananjay), VandeHaar, P. (Peter), Vrieze, S. (Scott), Walker, T. (Tarik), Wallace, R. (Robert), Waits, A. (Avram), Wan, E. (Emily), Wang, H. (Heming), Watson, K. (Karol), Weir, B. (Bruce), Weiss, S. (Scott), Weng, L.-C. (Lu-Chen), Williams, K. (Kayleen), Williams, L. K. (L. Keoki), Wilson, C. (Carla), Wong, Q. (Quenna), Xu, H. (Huichun), Yang, I. (Ivana), Yang, R. (Rongze), Zaghlou, N. (Norann), Zekavat, M. (Maryam), Zhang, Y. (Yingze), Zhao, S. X. (Snow Xueyan), Zhao, W. (Wei), Zni, D. (Degui), Zhou, X. (Xiang), Zhu, X. (Xiaofeng), Zody, M. (Michael), Zoellner, S. (Sebastian), Daly, M. (Mark), Jacob, H. (Howard), Matakidou, A. (Athena), Runz, H. (Heiko), John, S. (Sally), Plenge, R. (Robert), McCarthy, M. (Mark), Hunkapiller, J. (Julie), Ehm, M. (Meg), Waterworth, D. (Dawn), Fox, C. (Caroline), Malarstig, A. (Anders), Klinger, K. (Kathy), Call, K. (Kathy), Mkel, T. (Tomi), Kaprio, J. (Jaakko), Virolainen, P. (Petri), Pulkki, K. (Kari), Kilpi, T. (Terhi), Perola, M. (Markus), Partanen, J. (Jukka), Pitkranta, A. (Anne), Kaarteenaho, R. (Riitta), Vainio, S. (Seppo), Savinainen, K. (Kimmo), Kosma, V.-M. (Veli-Matti), Kujala, U. (Urho), Tuovila, O. (Outi), Hendolin, M. (Minna), Pakkanen, R. (Raimo), Waring, J. (Jeff), Riley-Gillis, B. (Bridget), Liu, J. (Jimmy), Biswas, S. (Shameek), Diogo, D. (Dorothee), Marshall, C. (Catherine), Hu, X. (Xinli), Gossel, M. (Matthias), Schleutker, J. (Johanna), Arvas, M. (Mikko), Hinttala, R. (Reetta), Kettunen, J. (Johannes), Laaksonen, R. (Reijo), Mannermaa, A. (Arto), Paloneva, J. (Juha), Soininen, H. (Hilkka), Julkunen, V. (Valtteri), Remes, A. (Anne), Klviinen, R. (Reetta), Hiltunen, M. (Mikko), Peltola, J. (Jukka), Tienari, P. (Pentti), Rinne, J. (Juha), Ziemann, A. (Adam), Waring, J. (Jeffrey), Esmaeeli, S. (Sahar), Smaoui, N. (Nizar), Lehtonen, A. (Anne), Eaton, S. (Susan), Landenper, S. (Sanni), Michon, J. (John), Kerchner, G. (Geoff), Bowers, N. (Natalie), Teng, E. (Edmond), Eicher, J. (John), Mehta, V. (Vinay), Gormle, P. Y. (Padhraig Y.), Linden, K. (Kari), Whelan, C. (Christopher), Xu, F. (Fanli), Pulford, D. (David), Frkkil, M. (Martti), Pikkarainen, S. (Sampsa), Jussila, A. (Airi), Blomster, T. (Timo), Kiviniemi, M. (Mikko), Voutilainen, M. (Markku), Georgantas, B. (Bob), Heap, G. (Graham), Rahimov, F. (Fedik), Usiskin, K. (Keith), Maranville, J. (Joseph), Lu, T. (Tim), Oh, D. (Danny), Kalpala, K. (Kirsi), Miller, M. (Melissa), McCarthy, L. (Linda), Eklund, K. (Kari), Palomki, A. (Antti), Isomki, P. (Pia), Piri, L. (Laura), Kaipiainen-Seppnen, O. (Oili), Lertratanaku, A. (Apinya), Bing, D. C. (David Close Marla Hochfeld Nan), Gordillo, J. E. (Jorge Esparza), Mars, N. (Nina), Laitinen, T. (Tarja), Pelkonen, M. (Margit), Kauppi, P. (Paula), Kankaanranta, H. (Hannu), Harju, T. (Terttu), Greenberg, S. (Steven), Chen, H. (Hubert), Betts, J. (Jo), Ghosh, S. (Soumitra), Salomaa, V. (Veikko), Niiranen, T. (Teemu), Juonala, M. (Markus), Metsrinne, K. (Kaj), Khnen, M. (Mika), Junttila, J. (Juhani), Laakso, M. (Markku), Pihlajamki, J. (Jussi), Sinisalo, J. (Juha), Taskinen, M.-R. (Marja-Riitta), Tuomi, T. (Tiinamaija), Laukkanen, J. (Jari), Challis, B. (Ben), Peterson, A. (Andrew), Chu, A. (Audrey), Parkkinen, J. (Jaakko), Muslin, A. (Anthony), Joensuu, H. (Heikki), Meretoja, T. (Tuomo), Aaltonen, L. (Lauri), Auranen, A. (Annika), Karihtala, P. (Peeter), Kauppila, S. (Saila), Auvinen, P. (Pivi), Elenius, K. (Klaus), Popovic, R. (Relja), Schutzman, J. (Jennifer), Loboda, A. (Andrey), Chhibber, A. (Aparna), Lehtonen, H. (Heli), McDonough, S. (Stefan), Crohns, M. (Marika), Kulkarni, D. (Diptee), Kaarniranta, K. (Kai), Turunen, J. (Joni), Ollila, T. (Terhi), Seitsonen, S. (Sanna), Uusitalo, H. (Hannu), Aaltonen, V. (Vesa), Uusitalo-Jrvinen, H. (Hannele), Luodonp, M. (Marja), Hautala, N. (Nina), Strauss, E. (Erich), Chen, H. (Hao), Podgornaia, A. (Anna), Hoffman, J. (Joshua), Tasanen, K. (Kaisa), Huilaja, L. (Laura), Hannula-Jouppi, K. (Katariina), Salmi, T. (Teea), Peltonen, S. (Sirkku), Koulu, L. (Leena), Harvima, I. (Ilkka), Wu, Y. (Ying), Choy, D. (David), Jalanko, A. (Anu), Kajanne, R. (Risto), Lyhs, U. (Ulrike), Kaunisto, M. (Mari), Davis, J. W. (Justin Wade), Quarless, D. (Danjuma), Petrovski, S. (Slav), Chen, C.-Y. (Chia-Yen), Bronson, P. (Paola), Yang, R. (Robert), Chang, D. (Diana), Bhangale, T. (Tushar), Holzinger, E. (Emily), Wang, X. (Xulong), Chen, X. (Xing), Auro, K. (Kirsi), Wang, C. (Clarence), Xu, E. (Ethan), Auge, F. (Franck), Chatelain, C. (Clement), Kurki, M. (Mitja), Karjalainen, J. (Juha), Havulinna, A. (Aki), Palin, K. (Kimmo), Palta, P. (Priit), Parolo, P. D. (Pietro Della Briotta), Zhou, W. (Wei), Lemmel, S. (Susanna), Rivas, M. (Manuel), Harju, J. (Jarmo), Lehisto, A. (Arto), Ganna, A. (Andrea), Llorens, V. (Vincent), Karlsson, A. (Antti), Kristiansson, K. (Kati), Hyvrinen, K. (Kati), Ritari, J. (Jarmo), Wahlfors, T. (Tiina), Koskinen, M. (Miika), Pylkäs, K. (Katri), Kalaoja, M. (Marita), Karjalainen, M. (Minna), Mantere, T. (Tuomo), Kangasniemi, E. (Eeva), Heikkinen, S. (Sami), Laakkonen, E. (Eija), Kononen, J. (Juha), Loukola, A. (Anu), Laiho, P. (Pivi), Sistonen, T. (Tuuli), Kaiharju, E. (Essi), Laukkanen, M. (Markku), Jrvensivu, E. (Elina), Lhteenmki, S. (Sini), Mnnikk, L. (Lotta), Wong, R. (Regis), Mattsson, H. (Hannele), Hiekkalinna, T. (Tero), Jimnez, M. G. (Manuel Gonzlez), Donner, K. (Kati), Prn, K. (KaIle), Nunez-Fontarnau, J. (Javier), Kilpelinen, E. (Elina), Sipi, T. P. (Timo P.), Brein, G. (Georg), Dada, A. (Alexander), Awaisa, G. (Ghazal), Shcherban, A. (Anastasia), Sipil, T. (Tuomas), Laivuori, H. (Hannele), Kiiskinen, T. (Tuomo), Siirtola, H. (Harri), Tabuenca, J. G. (Javier Gracia), Kallio, L. (Lila), Soini, S. (Sirpa), Pitknen, K. (Kimmo), Kuopio, T. (Teijo)

مصطلحات موضوعية: Cardiovascular genetics, Genome-wide association studies

وصف الملف: application/pdf

الاتاحة: http://urn.fi/urn:nbn:fi-fe2022040627379

المؤلفون: Nickerson, D. Scott, Yamasaki, Dwayne S.

المصدر: Advances in Wound Care (2162-1918); Jul2024, Vol. 13 Issue 7, p363-374, 12p

المؤلفون: Thomsen, B, Copeland, K, Harte, M, Muurlink, O, Villar, DA, Mirin, BH, Fennell, SR, Deshwal, A, Campbell, P, Pekrul, A, Murtough, KL, Kulkarni, A, Kumar, N, Thomsen, J, Coose, S, Maxwell, J, Zhang, Z, Nickerson, D, Gosler, A

Relation: https://ora.ox.ac.uk/objects/uuid:e3294228-efce-4702-ace4-d2f248da3984; https://doi.org/10.1093/ornithapp/duad053

الاتاحة: https://doi.org/10.1093/ornithapp/duad053
https://ora.ox.ac.uk/objects/uuid:e3294228-efce-4702-ace4-d2f248da3984

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

الاتاحة: http://urn.fi/urn:nbn:fi-fe202301235225

المؤلفون: Nickerson, D. P., Smith, N. P., Hunter, P. J.

المصدر: Philosophical Transactions: Mathematical, Physical and Engineering Sciences, 2001 Jun . 359(1783), 1159-1172.

URL الوصول: https://www.jstor.org/stable/3066562

المؤلفون: Thomsen, B, Cousins, T, Copeland, K, Thomsen, J, Coose, S, Mensah, A, Fennell, SR, Deshwal, A, Guzman, J, Copeland, S, Nickerson, D, Duggan, M, Schneider, A, Taylor, M, Saez, AH, Gosler, A

المساهمون: Holzer, JM, Baird, J, Hickey, GM

Relation: https://ora.ox.ac.uk/objects/uuid:c7604cb9-450c-4639-8ef3-eb8eb93fe44d; https://doi.org/10.1016/bs.aecr.2022.04.004

الاتاحة: https://doi.org/10.1016/bs.aecr.2022.04.004
https://ora.ox.ac.uk/objects/uuid:c7604cb9-450c-4639-8ef3-eb8eb93fe44d

المؤلفون: Clerx, M, Cooling, M, Cooper, J, Garny, A, Moyle, K, Nickerson, D, Nielsen, P, Sorby, H

Relation: https://ora.ox.ac.uk/objects/uuid:a6ac971a-316c-4cd6-a084-256b8b3a74e6; https://doi.org/10.1515/jib-2020-0021

الاتاحة: https://doi.org/10.1515/jib-2020-0021
https://ora.ox.ac.uk/objects/uuid:a6ac971a-316c-4cd6-a084-256b8b3a74e6

المؤلفون: Waltemath, D, Golebiewski, M, Blinov, ML, Gleeson, P, Hermjakob, H, Hucka, M, Inau, ET, Keating, SM, König, M, Krebs, O, Malik-Sheriff, RS, Nickerson, D, Oberortner, E, Sauro, HM, Schreiber, F, Smith, L, Stefan, MI, Wittig, U, Myers, CJ

المصدر: Journal of Integrative Bioinformatics (2020) (In press).

مصطلحات موضوعية: COMBINE, community building, meeting report, standardization

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10105491/1/%5B16134516%20-%20Journal%20of%20Integrative%20Bioinformatics%5D%20The%20first%2010%20years%20of%20the%20international%20coordination%20network%20for%20standards%20in%20systems%20and%20synthetic%20biology%20%28COMBINE%29.pdf; https://discovery.ucl.ac.uk/id/eprint/10105491/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10105491/1/%5B16134516%20-%20Journal%20of%20Integrative%20Bioinformatics%5D%20The%20first%2010%20years%20of%20the%20international%20coordination%20network%20for%20standards%20in%20systems%20and%20synthetic%20biology%20%28COMBINE%29.pdf
https://discovery.ucl.ac.uk/id/eprint/10105491/

المؤلفون: Neal ML, Konig M, Nickerson D, Misirli G, Kalbasi R, Drager A, Atalag K, Chelliah V, Cooling MT, Cook DL, Crook S, De Alba M, Friedman SH, Garny A, Gennari JH, Gleeson P, Golebiewski M, Hucka M, Juty N, Myers C, Olivier BG, Sauro HM, Scharm M, Snoep JL, Toure V, Wipat A, Wolkenhauer O, Waltemath D

المصدر: Briefings in Bioinformatics, 22 March 2019

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/256631; https://eprints.ncl.ac.uk/fulltext.aspx?url=256631/1F67997D-2076-42B5-90EA-279BFE403DEB.pdf&pub_id=256631

الاتاحة: https://eprints.ncl.ac.uk/256631

المؤلفون: Gonzalez-Ocantos, E, De Jonge, C, Melendez, C, Nickerson, D, Osorio, J

Relation: https://ora.ox.ac.uk/objects/uuid:f02baab2-3209-49ab-bd13-63de75c47300; https://doi.org/10.1177/0022343319884998

الاتاحة: https://doi.org/10.1177/0022343319884998
https://ora.ox.ac.uk/objects/uuid:f02baab2-3209-49ab-bd13-63de75c47300

المؤلفون: Schreiber, F, Sommer, B, Bader, GD, Gleeson, P, Golebiewski, M, Hucka, M, Keating, SM, König, M, Myers, C, Nickerson, D, Waltemath, D

المصدر: Journal of Integrative Bioinformatics , 16 (2) , Article 20190035. (2019)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10079277/1/%5BJournal%20of%20Integrative%20Bioinformatics%5D%20Specifications%20of%20Standards%20in%20Systems%20and%20Synthetic%20Biology%20Status%20and%20Developments%20in%202019.pdf; https://discovery.ucl.ac.uk/id/eprint/10079277/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10079277/1/%5BJournal%20of%20Integrative%20Bioinformatics%5D%20Specifications%20of%20Standards%20in%20Systems%20and%20Synthetic%20Biology%20Status%20and%20Developments%20in%202019.pdf
https://discovery.ucl.ac.uk/id/eprint/10079277/

المؤلفون: Neal, ML, König, M, Nickerson, D, Mısırlı, G, Kalbasi, R, Dräger, A, Atalag, K, Chelliah, V, Cooling, MT, Cook, DL, Crook, S, de Alba, M, Friedman, SH, Garny, A, Gennari, JH, Gleeson, P, Golebiewski, M, Hucka, M, Juty, N, Myers, C, Olivier, BG, Sauro, HM, Scharm, M, Snoep, JL, Touré, V, Wipat, A, Wolkenhauer, O, Waltemath, D

المصدر: Briefings in Bioinformatics , 20 (2) pp. 540-550. (2019)

مصطلحات موضوعية: semantic annotation, computational modeling, knowledge representation, modeling standards, data integration

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10072375/1/bby087%282%29.pdf; https://discovery.ucl.ac.uk/id/eprint/10072375/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10072375/1/bby087%282%29.pdf
https://discovery.ucl.ac.uk/id/eprint/10072375/

المؤلفون: Morleo M., Venditti R., Theodorou E., Briere L. C., Rosello M., Tirozzi A., Tammaro R., Al-Badri N., High F. A., Shi J., Acosta M. T., Adam M., Adams D. R., Alvarez R. L., Alvey J., Amendola L., Andrews A., Ashley E. A., Bacino C. A., Bademci G., Balasubramanyam A., Baldridge D., Bale J., Bamshad M., Barbouth D., Bayrak-Toydemir P., Beck A., Beggs A. H., Behrens E., Bejerano G., Bellen H. J., Bennett J., Berg-Rood B., Bernstein J. A., Berry G. T., Bican A., Bivona S., Blue E., Bohnsack J., Bonner D., Botto L., Boyd B., Brown G., Burke E. A., Burrage L. C., Butte M. J., Byers P., Byrd W. E., Carey J., Carrasquillo O., Cassini T., Chang T. C. P., Chanprasert S., Chao H. -T., Clark G. D., Coakley T. R., Cobban L. A., Cogan J. D., Coggins M., Cole F. S., Colley H. A., Cooper C. M., Cope H., Corona R., Craigen W. J., Crouse A. B., Cunningham M., D'Souza P., Dai H., Dasari S., Davis J., Dayal J. G., Dell'Angelica E. C., Dipple K., Doherty D., Dorrani N., Doss A. L., Douine E. D., Earl D., Eckstein D. J., Emrick L. T., Eng C. M., Falk M., Fieg E. L., Fisher P. G., Fogel B. L., Forghani I., Gahl W. A., Glass I., Gochuico B., Goddard P. C., Godfrey R. A., Golden-Grant K., Grajewski A., Hadley D., Hahn S., Halley M. C., Hamid R., Hassey K., Hayes N., High F., Hing A., Hisama F. M., Holm I. A., Hom J., Horike-Pyne M., Huang A., Hutchison S., Introne W., Isasi R., Izumi K., Jamal F., Jarvik G. P., Jarvik J., Jayadev S., Jean-Marie O., Jobanputra V., Karaviti L., Ketkar S., Kiley D., Kilich G., Kobren S. N., Kohane I. S., Kohler J. N., Korrick S., Kozuira M., Krakow D., Krasnewich D. M., Kravets E., Lalani S. R., Lam B., Lam C., Lanpher B. C., Lanza I. R., LeBlanc K., Lee B. H., Levitt R., Lewis R. A., Liu P., Liu X. Z., Longo N., Loo S. K., Loscalzo J., Maas R. L., Macnamara E. F., MacRae C. A., Maduro V. V., Maghiro A., Mahoney R., Malicdan M. C. V., Mamounas L. A., Manolio T. A., Mao R., Maravilla K., Marom R., Marth G., Martin B. A., Martin M. G., Martinez-Agosto J. A., Marwaha S., McCauley J., McConkie-Rosell A., McCray A. T., McGee E., Mefford H., Merritt J. L., Might M., Mirzaa G., Morava E., Moretti P., Mulvihill J., Nakano-Okuno M., Nelson S. F., Newman J. H., Nicholas S. K., Nickerson D., Nieves-Rodriguez S., Novacic D., Oglesbee D., Orengo J. P., Pace L., Pak S., Pallais J. C., Palmer C. G. S., Papp J. C., Parker N. H., Phillips III J. A., Posey J. E., Potocki L., Pusey Swerdzewski B. N., Quinlan A., Rao D. A., Raper A., Raskind W., Renteria G., Reuter C. M., Rives L., Robertson A. K., Rodan L. H., Rosenfeld J. A., Rosenwasser N., Rossignol F., Ruzhnikov M., Sacco R., Sampson J. B., Saporta M., Schaechter J., Schedl T., Schoch K., Scott D. A., Scott C. R., Shashi V., Shin J., Silverman E. K., Sinsheimer J. S., Sisco K., Smith E. C., Smith K. S., Solnica-Krezel L., Solomon B., Spillmann R. C., Stoler J. M., Sullivan K., Sullivan J. A., Sun A., Sutton S., Sweetser D. A., Sybert V., Tabor H. K., Tan Q. K. -G., Tan A. L. M., Tekin M., Telischi F., Thorson W., Tifft C. J., Toro C., Tran A. A., Ungar R. A., Urv T. K., Vanderver A., Velinder M., Viskochil D., Vogel T. P., Wahl C. E., Walker M., Wallace S., Walley N. M., Wambach J., Wan J., Wang L. -K., Wangler M. F., Ward P. A., Wegner D., Weisz Hubshman M., Wener M., Wenger T., Westerfield M., Wheeler M. T., Whitlock J., Wolfe L. A., Worley K., Xiao C., Yamamoto S., Yang J., Zhang Z., Zuchner S., Nigro V., Torella A., Spampanato C., Pinelli M., Banfi S., Varavallo A., Selicorni A., Mariani M., Massimello M., Daolio C., Capra V., Accogli A., Scala M., Leuzzi V., Nardecchia F., Galosi S., Mastrangelo M., Milani D., Vitiello G., Piluso G., Romano C., Failla P., Greco D., Pantaleoni C., Ciaccio C., D'Arrigo S., Brunetti Pierri N., Parenti G., Coppola A., Mattina T., Zollino M., Amenta S., Tummolo A., Santoro C., Grandone A., De Brasi D., Varone A., Garavelli L., Marini C., Bigoni S., Piscopo C., Trabacca A., De Rinaldis M., Peron A., Putti E., Ferrante L., Cetrangolo V., Walker M. A., Tenconi R., Iascone M., Mei D., Guerrini R., van der Smagt J., Kroes H. Y., van Gassen K. L. I., Bilal M., Umair M., Pingault V., Attie-Bitach T., Amiel J., Ejaz R., Rodan L., Agrawal P. B., Del Bene F., Franco B.

المساهمون: Morleo, M., Venditti, R., Theodorou, E., Briere, L. C., Rosello, M., Tirozzi, A., Tammaro, R., Al-Badri, N., High, F. A., Shi, J., Acosta, M. T., Adam, M., Adams, D. R., Alvarez, R. L., Alvey, J., Amendola, L., Andrews, A., Ashley, E. A., Bacino, C. A., Bademci, G., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Berg-Rood, B., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Boyd, B., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Carrasquillo, O., Cassini, T., Chang, T. C. P., Chanprasert, S., Chao, H. -T., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Cole, F. S., Colley, H. A., Cooper, C. M., Cope, H., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Dell'Angelica, E. C., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Gahl, W. A., Glass, I., Gochuico, B., Goddard, P. C., Godfrey, R. A., Golden-Grant, K., Grajewski, A., Hadley, D., Hahn, S., Halley, M. C., Hamid, R., Hassey, K., Hayes, N.

مصطلحات موضوعية: PIP5K1C, de novo gain-of-function variant, developmental delay, endosome, intellectual disability, phosphatidylinositol 4,5 bisphosphate (PI(4,5)P(2)), phosphoinositide, zebrafish

Relation: info:eu-repo/semantics/altIdentifier/pmid/37451268; info:eu-repo/semantics/altIdentifier/wos/WOS:001052941700001; volume:110; issue:8; firstpage:1377; lastpage:1393; numberofpages:17; journal:AMERICAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11591/544390

الاتاحة: https://hdl.handle.net/11591/544390
https://doi.org/10.1016/j.ajhg.2023.06.012

المؤلفون: Hirsch, S. D., Elling, C. L., Bootpetch, T. C., Scholes, M. A., Hafrén, L., Streubel, S. -O, Pine, H. S., Wine, T. M., Szeremeta, W., Prager, J. D., Einarsdottir, Elisabet, Yousaf, A., Baschal, E. E., Rehman, S., Bamshad, M. J., Nickerson, D. A., Riazuddin, S., Leal, S. M., Ahmed, Z. M., Yoon, P. J., Kere, J., Chan, K. H., Mattila, P. S., Friedman, N. R., Chonmaitree, T., Frank, D. N., Ryan, A. F., Santos-Cortez, R. L. P.

المصدر: Journal of Molecular Medicine. 99(11):1571-1583

مصطلحات موضوعية: CDHR3, Expression, Microbiome, Middle ear, Otitis media, rs6967330, antibiotic agent, messenger RNA, RNA 16S, cadherin related protein, CDHR3 protein, human, membrane protein, transcriptome, acute otitis media, airway epithelium cell, allergic rhinitis, Article, bacterial microbiome, Caucasian, cdhr3 gene, child, cohort analysis, Colorado, differential expression analysis, DNA sequencing, ear tissue, ethnicity, exome, female, Finland, gene, gene frequency, gene function, gene identification, gene linkage disequilibrium, genetic susceptibility, genetic variability, genotype, Hispanic, human tissue, loss of function mutation, Lysobacter, major clinical study, male, Minnesota, nasopharynx, nontypeable Haemophilus influenzae, otoscopy, Pakistani, pathogenesis, population abundance, preschool child, recurrent disease, RNA sequencing, Sanger sequencing, single cell RNA seq, single nucleotide polymorphism, Streptomyces, Texas, tympanometry, whole exome sequencing, animal, C57BL mouse, genetic predisposition, genetics, infant, microbiology, microflora, mutation, Animals, Cadherin Related Proteins, Child, Preschool, Genetic Predisposition to Disease, Humans, Membrane Proteins, Mice, Inbred C57BL, Microbiota, RNA, Ribosomal, 16S

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-310703

المؤلفون: Bergmann, FT, Cooper, J, König, M, Moraru, I, Nickerson, D, Le Novère, N, Olivier, BG, Sahle, S, Smith, L, Waltemath, D

المصدر: Journal of Integrative Bioinformatics , 15 (1) , Article 20170086. (2018)

مصطلحات موضوعية: Simulation experiment, computational modeling, reproducibility

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10049230/1/%5BJournal%20of%20Integrative%20Bioinformatics%5D%20Simulation%20Experiment%20Description%20Markup%20Language%20%28SED-ML%29%20Level%201%20Version%203%20%28L1V3%29.pdf; https://discovery.ucl.ac.uk/id/eprint/10049230/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10049230/1/%5BJournal%20of%20Integrative%20Bioinformatics%5D%20Simulation%20Experiment%20Description%20Markup%20Language%20%28SED-ML%29%20Level%201%20Version%203%20%28L1V3%29.pdf
https://discovery.ucl.ac.uk/id/eprint/10049230/