المؤلفون: Klockner, C, Sticht, H, Zacher, P, Popp, B, Babcock, HE, Bakker, DP, Barwick, K, Bonfert, MV, Bonnemann, CG, Brilstra, EH, Chung, WK, Clarke, AJ, Devine, P, Donkervoort, S, Fraser, JL, Friedman, J, Gates, A, Ghoumid, J, Hobson, E, Horvath, G, Keller-Ramey, J, Keren, B, Kurian, MA, Lee, V, Leppig, KA, Lundgren, J, McDonald, MT, McTague, A, Mefford, HC, Mignot, C, Mikati, MA, Nava, C, Raymond, FL, Sampson, JR, Sanchis-Juan, A, Shashi, V, Shieh, JTC, Shinawi, M, Slavotinek, A, Stodberg, T, Stong, N, Sullivan, JA, Taylor, AC, Toler, TL, van den Boogaard, MJ, van der Crabben, SN, van Gassen, KLI, van Jaarsveld, RH, Van Ziffle, J, Wadley, AF, Wagner, M, Wigby, K, Wortmann, SB, Zarate, YA, Moller, RS, Lemke, JR, Platzer, K

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(4):653-660

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:145338504

المؤلفون: O'Donnell-Luria, AH, Pais, LS, Faundes, V, Wood, JC, Sveden, A, Luria, V, Abou Jamra, R, Accogli, A, Amburgey, K, Anderlid, BM, Azzarello-Burri, S, Basinger, AA, Bianchini, C, Bird, LM, Buchert, R, Carre, W, Ceulemans, S, Charles, P, Cox, H, Culliton, L, Curro, A, Demurger, F, Dowling, JJ, Duban-Bedu, B, Dubourg, C, Eiset, SE, Escobar, LF, Ferrarini, A, Haack, TB, Hashim, M, Heide, S, Helbig, KL, Helbig, I, Heredia, R, Heron, D, Isidor, B, Jonasson, AR, Joset, P, Keren, B, Kok, F, Kroes, HY, Lavillaureix, A, Lu, X, Maas, SM, Maegawa, GHB, Marcelis, CLM, Mark, PR, Masruha, MR, McLaughlin, HM, McWalter, K, Melchinger, EU, Mercimek-Andrews, S, Nava, C, Pendziwiat, M, Person, R, Ramelli, GP, Ramos, LLP, Rauch, A, Reavey, C, Renieri, A, Riess, A, Sanchez-Valle, A, Sattar, S, Saunders, C, Schwarz, N, Smol, T, Srour, M, Steindl, K, Syrbe, S, Taylor, JC, Telegrafi, A, Thiffault, I, Trauner, DA, van der Linden, H, van Koningsbruggen, S, Villard, L, Vogel, I, Vogt, J, Weber, YG, Wentzensen, IM, Widjaja, E, Zak, J, Baxter, S, Banka, S, Rodan, LH, Mcrae, JF, Clayton, S, Fitzgerald, TW, Kaplanis, J, Prigmore, E, Rajan, D, Sifrim, A, Aitken, S, Akawi, N, Alvi, M, Ambridge, K, Barrett, DM, Bayzetinova, T, Jones, P, Jones, WD, King, D, Krishnappa, N, Mason, LE, Singh, T, Tivey, AR, Ahmed, M, Anjum, U, Archer, H, Armstrong, R, Awada, J, Balasubramanian, M, Baralle, D, Barnicoat, A, Batstone, P, Baty, D, Bennett, C, Berg, J, Bernhard, B, Bevan, AP, Bitner-Glindzicz, M, Blair, E, Blyth, M, Bohanna, D, Bourdon, L, Bourn, D, Bradley, L, Brady, A, Brent, S, Brewer, C, Brunstrom, K, Bunyan, DJ, Burn, J, Canham, N, Castle, B, Chandler, K, Chatzimichali, E, Cilliers, D, Clarke, A, Clasper, S, Clayton-Smith, J, Clowes, V, Coates, A, Cole, T, Colgiu, I, Collins, A, Collinson, MN, Connell, F, Cooper, N, Cresswell, L, Cross, G, Crow, Y, D'Alessandro, M, Dabir, T, Davidson, R, Davies, S, de Vries, D, Dean, J, Deshpande, C, Devlin, G, Dixit, A, Dobbie, A, Donaldson, A, Donnai, D, Donnelly, D, Donnelly, C, Douglas, A, Douzgou, S, Duncan, A, Eason, J, Ellard, S, Ellis, I, Elmslie, F, Evans, K, Everest, S, Fendick, T, Fisher, R, Flinter, F, Foulds, N, Fry, A, Fryer, A, Gardiner, C, Gaunt, L, Ghali, N, Gibbons, R, Gill, H, Goodship, J, Goudie, D, Gray, E, Green, A, Greene, P, Greenhalgh, L, Gribble, S, Harrison, R, Harrison, L, Harrison, V, Hawkins, R, He, L, Hellens, S, Henderson, A, Hewitt, S, Hildyard, L, Hobson, E, Holden, S, Holder, M, Holder, S, Hollingsworth, G, Homfray, T, Humphreys, M, Hurst, J, Hutton, B, Ingram, S, Irving, M, Islam, L, Jackson, A, Jarvis, J, Jenkins, L, Johnson, D, Jones, E, Josifova, D, Joss, S, Kaemba, B, Kazembe, S, Kelsell, R, Kerr, B, Kingston, H, Kini, U, Kinning, E, Kirby, G, Kirk, C, Kivuva, E, Kraus, A, Kumar, D, Kumar, VKA, Lachlan, K, Lam, W, Lampe, A, Langman, C, Lees, M, Lim, D, Longman, C, Lowther, G, Lynch, SA, Magee, A, Maher, E, Male, A, Mansour, S, Marks, K, Martin, K, Maye, U, McCann, E, McConnell, V, McEntagart, M, McGowan, R, Mckay, K, Mckee, S, McMullan, DJ, McNerlan, S, McWilliam, C, Mehta, S, Metcalfe, K, Middleton, A, Miedzybrodzka, Z, Miles, E, Mohammed, S, Montgomery, T, Moore, D, Morgan, S, Morton, J, Mugalaasi, H, Murday, V, Murphy, H, Naik, S, Nemeth, A, Nevitt, L, Newbury-Ecob, R, Norman, A, O'Shea, R, Ogilvie, C, Ong, KR, Park, SM, Parker, MJ, Patel, C, Paterson, J, Payne, S, Perrett, D, Phipps, J, Pilz, DT, Pollard, M, Pottinger, C, Poulton, J, Pratt, N, Prescott, K, Price, S, Pridham, A, Procter, A, Purnell, H, Quarrell, O, Ragge, N, Rahbari, R, Randall, J, Rankin, J, Raymond, L, Rice, D, Robert, L, Roberts, E, Roberts, J, Roberts, P, Roberts, G, Ross, A, Rosser, E, Saggar, A, Samant, S, Sampson, J, Sandford, R, Sarkar, A, Schweiger, S, Scott, R, Scurr, I, Selby, A, Seller, A, Sequeira, C, Shannon, N, Sharif, S, Shaw-Smith, C, Shearing, E, Shears, D, Sheridan, E, Simonic, I, Singzon, R, Skitt, Z, Smith, A, Smith, K, Smithson, S, Sneddon, L, Splitt, M, Squires, M, Stewart, F, Stewart, H, Straub, V, Suri, M, Sutton, V, Swaminathan, GJ, Sweeney, E, Tatton-Brown, K, Taylor, C, Taylor, R, Tein, M, Temple, IK, Thomson, J, Tischkowitz, M, Tomkins, S, Torokwa, A, Treacy, B, Turner, C, Turnpenny, P, Tysoe, C, Vandersteen, A, Varghese, V, Vasudevan, P, Vijayarangakannan, P, Wakeling, E, Wallwark, S, Waters, J, Weber, A, Wellesley, D, Whiteford, M, Widaa, S, Wilcox, S, Wilkinson, E, Williams, D, Williams, N, Wilson, L, Woods, G, Wragg, C, Wright, M, Yates, L, Yau, M, Nellaker, C, Parker, M, Firth, HV, Wright, CF, FitzPatrick, DR, Barrett, JC, Hurles, ME

المصدر: American journal of human genetics. 104(6):1210-1222

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:141067079

المؤلفون: Van Dijck, A, Vulto-van Silfhout, AT, Cappuyns, E, van der Werf, IM, Mancini, GM, Tzschach, A, Bernier, R, Gozes, I, Eichler, EE, Romano, C, Lindstrand, A, Nordgren, A, Kvarnung, M, Kleefstra, T, de Vries, BBA, Kury, S, Rosenfeld, JA, Meuwissen, ME, Vandeweyer, G, Kooy, RF, Bakshi, M, Wilson, M, Berman, Y, Dickson, R, Fransen, E, Helsmoortel, C, Van den Ende, J, Van der Aa, N, van de Wijdeven, MJ, Rosenblum, J, Monteiro, F, Kok, F, Quercia, N, Bowdin, S, Dyment, D, Chitayat, D, Alkhunaizi, E, Boonen, SE, Keren, B, Jacquette, A, Faivre, L, Bezieau, S, Isidor, B, Riess, A, Moog, U, Lynch, SA, McVeigh, T, Elpeleg, O, Smeland, MF, Fannemel, M, van Haeringen, A, Maas, SM, Veenstra-Knol, HE, Schouten, M, Willemsen, MH, Marcelis, CL, Ockeloen, C, van der Burgt, I, Feenstra, I, van der Smagt, J, Jezela-Stanek, A, Krajewska-Walasek, M, Gonzalez-Lamuno, D, Anderlid, BM, Malmgren, H, Nordenskjold, M, Clement, E, Hurst, J, Metcalfe, K, Mansour, S, Lachlan, K, Clayton-Smith, J, Hendon, LG, Abdulrahman, OA, Morrow, E, McMillan, C, Gerdts, J, Peeden, J, Vergano, SAS, Valentino, C, Chung, WK, Ozmore, JR, Bedrosian-Sermone, S, Dennis, A, Treat, K, Hughes, SS, Safina, N, Le Pichon, JB, McGuire, M, Infante, E, Madan-Khetarpal, S, Desai, S, Benke, P, Krokosky, A, Cristian, I, Baker, L, Gripp, K, Stessman, HA, Eichenberger, J, Jayakar, P, Pizzino, A, Manning, MA, Slattery, L

المصدر: Biological psychiatry. 85(4):287-297

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:140073087

المؤلفون: Helbig, KL, Lauerer, RJ, Bahr, JC, Souza, IA, Myers, CT, Uysal, B, Schwarz, N, Gandini, MA, Huang, S, Keren, B, Mignot, C, Afenjar, A, de Villemeur, TB, Heron, D, Nava, C, Valence, S, Buratti, J, Fagerberg, CR, Soerensen, KP, Kibaek, M, Kamsteeg, EJ, Koolen, DA, Gunning, B, Schelhaas, HJ, Kruer, MC, Fox, J, Bakhtiari, S, Jarrar, R, Padilla-Lopez, S, Lindstrom, K, Jin, SC, Zeng, X, Bilguvar, K, Papavasileiou, A, Xin, QH, Zhu, CL, Boysen, K, Vairo, F, Lanpher, BC, Klee, EW, Tillema, JM, Payne, ET, Cousin, MA, Kruisselbrink, TM, Wick, MJ, Baker, J, Haan, E, Smith, N, Corbett, MA, MacLennan, AH, Gecz, J, Biskup, S, Goldmann, E, Rodan, LH, Kichula, E, Segal, E, Jackson, KE, Asamoah, A, Dimmock, D, McCarrier, J, Botto, LD, Filloux, F, Tvrdik, T, Cascino, GD, Klingerman, S, Neumann, C, Wang, R, Jacobsen, JC, Nolan, MA, Snell, RG, Lehnert, K, Sadleir, LG, Anderlid, BM, Kvarnung, M, Guerrini, R, Friez, MJ, Lyons, MJ, Leonhard, J, Kringlen, G, Casas, K, El Achkar, CM, Smith, LA, Rotenberg, A, Poduri, A, Sanchis-Juan, A, Carss, KJ, Rankin, J, Zeman, A, Raymond, FL, Blyth, M, Kerr, B, Ruiz, K, Urquhart, J, Hughes, I, Banka, S, Hedrich, UBS, Scheffer, IE, Helbig, I, Zamponi, GW, Lerche, H, Mefford, HC

المصدر: American journal of human genetics. 103(5):666-678

مصطلحات موضوعية: Medicin och hälsovetenskap, Klinisk medicin, Neurologi, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:139492388

المؤلفون: Le, TL, Galmiche, L, Levy, J, Suwannarat, P, Hellebrekers, DM, Morarach, K, Boismoreau, F, Theunissen, TEJ, Lefebvre, M, Pelet, A, Martinovic, J, Gelot, A, Guimiot, F, Calleroz, A, Gitiaux, C, Hully, M, Goulet, O, Chardot, C, Drunat, S, Capri, Y, Bole-Feysot, C, Nitschke, P, Whalen, S, Mouthon, L, Babcock, HE, Hofstra, R, de Coo, IFM, Tabet, AC, Molina, TJ, Keren, B, Brooks, A, Smeets, HJM, Marklund, U, Gordon, CT, Lyonnet, S, Amiel, J, Bondurand, N

المصدر: The Journal of clinical investigation. 131(6)

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:146878628

المؤلفون: Stessman, HAF, Willemsen, MH, Fenckova, M, Penn, O, Hoischen, A, Xiong, B, Wang, TY, Hoekzema, K, Vives, L, Voge, I, Brunner, HG, van der Burgt, I, Ockeloen, CW, Schuurs-Hoeijmakers, JH, Wassink-Ruiter, JSK, Stumpel, C, Stevens, SJC, Vles, HS, Marcelis, CM, van Bokhoven, H, Cantagrel, V, Colleaux, L, Nicouleau, M, Lyonnet, S, Bernier, RA, Gerdts, J, Coe, BP, Romano, C, Alberti, A, Grillo, L, Scuderi, C, Nordenskjold, M, Kvarnung, M, Guo, H, Xia, K, Piton, A, Gerard, B, Genevieve, D, Delobel, B, Lehalle, D, Perrin, L, Prieur, F, Thevenon, J, Gecz, J, Shaw, M, Pfundt, R, Keren, B, Jacquette, A, Schenck, A, Eichler, EE, Kleefstra, Tz

المصدر: American journal of human genetics. 98(3):541-552

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:133190407

المؤلفون: Lavillaureix, A., Rollier, P., Kim, A., Panasenkava, V., De Tayrac, M., Carré, W., Guyodo, H., Faoucher, M., Poirel, E., Akloul, L., Quelin, C., Whalen, S., Bos, J., Broekema, M., Van Hagen, J. M., Grand, K., Allen-Sharpley, M., Magness, E., Mclean, S., Kayserili, H., Altunoglu, U., En Qi Chong, A., Xue, S., Jeanne, M., Almontashiri, N., Habhab, W., Vanlerberghe, Clemence, Faivre, L., Viora Dupont, E., Philippe, C., Safraou, H., Laffargue, F., Mittendorf, L., Abou Jamra, R., Patil, S. J., Dalal, A., Sarma, A. S., Keren, B., Reversade, B., Dubourg, C., Odent, S., Dupé, V.

المساهمون: Université de Lille, CHU Lille, Centre de référence Maladies Rares CLAD-Ouest Rennes, Hôpital Sud CHU Rennes, Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 RADEME, Institut de Génétique et Développement de Rennes IGDR

وصف الملف: application/pdf

Relation: Genetics in Medicine; Genet Med; http://hdl.handle.net/20.500.12210/114219

الاتاحة: https://hdl.handle.net/20.500.12210/114219

المؤلفون: Turton, Keren B, Esnault, Stéphane, DeLain, Larissa P, Mosher, Deane F

المساهمون: Université de Lille, Inserm, CHU Lille, University of Wisconsin School of Medicine and Public Health

مصطلحات موضوعية: Alternative Splicing, Base Sequence, DNA Primers, Humans, Protein Isoforms, RNA Splice Sites, RNA, Messenger, Real-Time Polymerase Chain Reaction, STAT3 Transcription Factor

وصف الملف: application/octet-stream; application/rdf+xml; charset=utf-8

Relation: Journal of visualized experiments : JoVE; J Vis Exp; http://hdl.handle.net/20.500.12210/88627

الاتاحة: https://hdl.handle.net/20.500.12210/88627

المؤلفون: Turton, Keren B, Annis, Douglas S, Rui, Lixin, Esnault, Stéphane, Mosher, Deane F

المساهمون: Université de Lille, Inserm, CHU Lille, University of Wisconsin School of Medicine and Public Health

مصطلحات موضوعية: Alternative Splicing, Amino Acid Sequence, B-Lymphocytes, Base Sequence, Cell Line, Tumor, Eosinophils, Germinal Center, Humans, Lymphoma, Large B-Cell, Diffuse, Molecular Sequence Data, RNA Splice Sites, RNA, Messenger, Real-Time Polymerase Chain Reaction, Reproducibility of Results, STAT3 Transcription Factor, Transcription, Genetic

وصف الملف: application/octet-stream; application/rdf+xml; charset=utf-8

Relation: PLoS ONE; http://hdl.handle.net/20.500.12210/89220

الاتاحة: https://hdl.handle.net/20.500.12210/89220

المؤلفون: Tessadori, F., Duran, K., Knapp, K., Fellner, M., Smithson, S., Beleza Meireles, A., Elting, M. W., Waisfisz, Q., O'donnell-Luria, A., Nowak, C., Douglas, J., Ronan, A., Brunet, T., Kotzaeridou, U., Svihovec, S., Saenz, M. S., Thiffault, I., Del Viso, F., Devine, P., Rego, S., Tenney, J., Van Haeringen, A., Ruivenkamp, C. A. L., Koene, S., Robertson, S. P., Deshpande, C., Pfundt, R., Verbeek, N., Van De Kamp, J. M., Weiss, J. M. M., Ruiz, A., Gabau, E., Banne, E., Pepler, A., Bottani, A., Laurent, S., Guipponi, M., Bijlsma, E., Bruel, A. L., Sorlin, A., Willis, M., Powis, Z., Smol, Thomas, Vincent-Delorme, C., Baralle, D., Colin, E., Revencu, N., Calpena, E., Wilkie, A. O. M., Chopra, M., Cormier-Daire, V., Keren, B., Afenjar, A., Niceta, M., Terracciano, A., Specchio, N., Tartaglia, M., Rio, M., Barcia, G., Rondeau, S., Colson, C., Bakkers, J., Mace, P. D., Bicknell, L. S., Van Haaften, G.

المساهمون: Université de Lille, CHU Lille, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364, University of Otago Dunedin, Nouvelle-Zélande, Universiteit Utrecht / Utrecht University Utrecht

وصف الملف: application/octet-stream; application/rdf+xml; charset=utf-8

Relation: American Journal of Human Genetics; Am J Hum Genet; http://hdl.handle.net/20.500.12210/114505

الاتاحة: https://hdl.handle.net/20.500.12210/114505

المؤلفون: Shashi, V, Magiera, MM, Klein, D, Zaki, M, Schoch, K, Rudnik-Schoneborn, S, Norman, A, Neto, OLA, Dusl, M, Yuan, XD, Bartesaghi, L, De Marco, P, Alfares, AA, Marom, R, Arold, ST, Guzman-Vega, FJ, Pena, LDM, Smith, EC, Steinlin, M, Babiker, MOE, Mohassel, P, Foley, AR, Donkervoort, S, Kaur, R, Ghosh, PS, Stanley, V, Musaev, D, Nava, C, Mignot, C, Keren, B, Scala, M, Tassano, E, Picco, P, Doneda, P, Fiorillo, C, Issa, MY, Alassiri, A, Alahmad, A, Gerard, A, Liu, PF, Yang, YP, Ertl-Wagner, B, Kranz, PG, Wentzensen, IM, Stucka, R, Stong, N, Allen, AS, Goldstein, DB, Schoser, B, Rosler, KM, Alfadhel, M, Capra, V, Chrast, R, Strom, TM, Kamsteeg, EJ, Bonnemann, CG, Gleeson, JG, Martini, R, Janke, C, Senderek, J

المصدر: The EMBO journal. 37(23)

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:139741553

المؤلفون: Gillentine, MA, Wang, TY, Hoekzema, K, Rosenfeld, J, Liu, PF, Guo, H, Kim, CN, De Vries, BBA, Vissers, LELM, Nordenskjold, M, Kvarnung, M, Lindstrand, A, Nordgren, A, Gecz, J, Iascone, M, Cereda, A, Scatigno, A, Maitz, S, Zanni, G, Bertini, E, Zweier, C, Schuhmann, S, Wiesener, A, Pepper, M, Panjwani, H, Torti, E, Abid, F, Anselm, I, Srivastava, S, Atwal, P, Bacino, CA, Bhat, G, Cobian, K, Bird, LM, Friedman, J, Wright, MS, Callewaert, B, Petit, F, Mathieu, S, Afenjar, A, Christensen, CK, White, KM, Elpeleg, O, Berger, I, Espineli, EJ, Fagerberg, C, Brasch-Andersen, C, Hansen, LK, Feyma, T, Hughes, S, Thiffault, I, Sullivan, B, Yan, S, Keller, K, Keren, B, Mignot, C, Kooy, F, Meuwissen, M, Basinger, A, Kukolich, M, Philips, M, Ortega, L, Drummond-Borg, M, Lauridsen, M, Sorensen, K, Lehman, A, Lopez-Rangel, E, Levy, P, Lessel, D, Lotze, T, Madan-Khetarpal, S, Sebastian, J, Vento, J, Vats, D, Benman, LM, Mckee, S, Mirzaa, GM, Muss, C, Pappas, J, Peeters, H, Romano, C, Elia, M, Galesi, O, Simon, MEH, van Gassen, KLI, Simpson, K, Stratton, R, Syed, S, Thevenon, J, Palafoll, IV, Vitobello, A, Bournez, M, Faivre, L, Xia, K, Earl, RK, Nowakowski, T, Bernier, RA, Eichler, EE

المصدر: Genome medicine. 13(1):63

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:146541529

المؤلفون: Klockner, C, Sticht, H, Zacher, P, Popp, B, Babcock, HE, Bakker, DP, Barwick, K, Bonfert, MV, Bonnemann, CG, Brilstra, EH, Chung, WK, Clarke, AJ, Devine, P, Donkervoort, S, Fraser, JL, Friedman, J, Gates, A, Ghoumid, J, Hobson, E, Horvath, G, Keller-Ramey, J, Keren, B, Kurian, MA, Lee, VA, Leppig, KA, Lundgren, J, McDonald, MT, McLaughlin, HM, McTague, A, Mefford, HC, Mignot, C, Mikati, MA, Nava, C, Raymond, FL, Sampson, JR, Sanchis-Juan, A, Shashi, V, Shieh, JTC, Shinawi, M, Slavotinek, A, Stodberg, T, Stong, N, Sullivan, JA, Taylor, AC, Toler, TL, van den Boogaard, MJ, van der Crabben, SN, van Gassen, KLI, van Jaarsveld, RH, Van Ziffle, J, Wadley, AF, Wagner, M, Wigby, K, Wortmann, SB, Zarate, YA, Moller, RS, Lemke, JR, Platzer, K

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(4):796-796

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:146229962

المؤلفون: Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, Devlin A, Hoffer MJV, Machol K, Mannaioni G, Sakamoto M, Menezes MP, Courtin T, Sherr E, Parra R, Richardson R, Roscioli T, Scala M, von Stulpnagel C, Smedley D, Pochiero F, Mari F, Ramesh V, Capra V, Mancardi M, Keren B, Mignot C, Lulli M, Parks K, Griffin H, Brugger M, Nigro V, Hirata Y, Koichihara R, Peterlin B, Maki R, Nitta Y, Ambrose JC, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred CR, Brittain H, Brown MA, Caulfield MJ, Chan GC, Giess A, Griffin JN, Hamblin A, Henderson S, Hubbard TJP, Jackson R, Jones LJ, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Lakey A, Leigh SEA, Leong IUS, Lopez JF, Maleady-Crowe F, McEntagart M, Minneci F, Mitchell J, Moutsianas L, Mueller M, Murugaesu N, Need AC, O'Donovan P, Odhams CA, Patch C, Perez-Gil D, Pereira MB, Pullinger J, Rahim T, Rendon A, Rogers T, 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, Zarowiecki M, Torella A, Tohyama J, Hamada K, Ogata K, Suzuki T, Sugie A, van der Smagt JJ, van Gassen K, Valence S, Vittery E, Malone S, Kato M, Matsumoto N, Ratto GM, Guerrini R

المصدر: American Journal of Human Genetics, 3 August 2023

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/293028; https://eprints.ncl.ac.uk/fulltext.aspx?url=293028/72092B1E-63AA-46F3-8128-4AA7055D67D9.pdf&pub_id=293028

الاتاحة: https://eprints.ncl.ac.uk/293028

المؤلفون: Gouronc, A. (Aurélie), Javey, E. (Elodie), Leuvrey, A. (Anne-Sophie), Nourisson, E. (Elsa), Friedmann, S. (Sylvie), Reichert, V. (Valérie), Derive, N. (Nicolas), Francannet, C. (Christine), Keren, B. (Boris), Lévy, J. (Jonathan), Planes, M. (Marc), Ruaud, L. (Lyse), Amiel, J. (Jeanne), Dollfus, H. (Hélène), Scheidecker, S. (Sophie), Muller, J. (Jean)

مصطلحات موضوعية: Sciences du Vivant [q-bio]/Génétique

الاتاحة: https://www.hindawi.com/journals/humu/2023/2564200/

المؤلفون: Delanne, J, Lecat, M, Blackburn, P R, Klee, E, Stumpel, C, Stegmann, S, Stevens, S J C, Nava, C, Heron, D, Keren, B, Mahida, S, Naidu, S, Babovic-Vuksanovic, D, Herkert, J C, Torring, P M, Kibæk, M, De Bie, I, Pfundt, R, Hendriks, Y M C, Ousager, L B, Bend, R, Warren, H, Skinner, S, Lyons, M, Poe, C, Chevarin, M, Jouan, T, Garde, A, Thomas, Q, Kuentz, P, Tisserant, E, Duffourd, Y, Philippe, C, Faivre, L, Thauvin-Robinet, C

المصدر: Delanne , J , Lecat , M , Blackburn , P R , Klee , E , Stumpel , C , Stegmann , S , Stevens , S J C , Nava , C , Heron , D , Keren , B , Mahida , S , Naidu , S , Babovic-Vuksanovic , D , Herkert , J C , Torring , P M , Kibæk , M , De Bie , I , Pfundt , R , Hendriks , Y M C , Ousager , L B , Bend , R , Warren , H , Skinner , ....

Relation: https://cris.maastrichtuniversity.nl/en/publications/919edaf3-9164-4919-b5f0-28440befd19c

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/919edaf3-9164-4919-b5f0-28440befd19c
https://doi.org/10.1016/j.ejmg.2022.104670

المؤلفون: Gillentine, M. A., Wang, T., Hoekzema, K., Rosenfeld, J., Liu, P., Guo, H., Kim, C. N., De Vries, B. B. A., Vissers, L. E. L. M., Nordenskjold, M., Kvarnung, M., Lindstrand, A., Nordgren, A., Gecz, J., Iascone, M., Cereda, A., Scatigno, A., Maitz, S., Zanni, G., Bertini, E., Zweier, C., Schuhmann, S., Wiesener, A., Pepper, M., Panjwani, H., Torti, E., Abid, F., Anselm, I., Srivastava, S., Atwal, P., Bacino, C. A., Bhat, G., Cobian, K., Bird, L. M., Friedman, J., Wright, M. S., Callewaert, B., Petit, Florence, Mathieu, S., Afenjar, A., Christensen, C. K., White, K. M., Elpeleg, O., Berger, I., Espineli, E. J., Fagerberg, C., Brasch-Andersen, C., Hansen, L. K., Feyma, T., Hughes, S., Thiffault, I., Sullivan, B., Yan, S., Keller, K., Keren, B., Mignot, C., Kooy, F., Meuwissen, M., Basinger, A., Kukolich, M., Philips, M., Ortega, L., Drummond-Borg, M., Lauridsen, M., Sorensen, K., Lehman, A., Lopez-Rangel, E., Levy, P., Lessel, D., Lotze, T., Madan-Khetarpal, S., Sebastian, J., Vento, J., Vats, D., Benman, L. M., Mckee, S., Mirzaa, G. M., Muss, C., Pappas, J., Peeters, H., Romano, C., Elia, M., Galesi, O., Simon, M. E. H., Van Gassen, K. L. I., Simpson, K., Stratton, R., Syed, S., Thevenon, J., Palafoll, I. V., Vitobello, A., Bournez, M., Faivre, L., Xia, K., Earl, R. K., Nowakowski, T., Bernier, R. A., Eichler, E. E.

المساهمون: Université de Lille, CHU Lille, Washington University School of Medicine Saint Louis, MO, Karolinska University Hospital Solna, Sweden KUH, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364, Centre de Référence Déficiences Intellectuelles de causes rares / Rare Disease Reference Center for Intellectual Disability CHU Robert Debré, AP-HP

مصطلحات موضوعية: Gene families, hnRNPs, Neurodevelopmental disorders, Cortex development

وصف الملف: application/octet-stream; application/rdf+xml; charset=utf-8; application/pdf

Relation: Genome Medicine; Genome Med; http://hdl.handle.net/20.500.12210/84177

الاتاحة: https://hdl.handle.net/20.500.12210/84177

المؤلفون: Parenti, I., Leitão, E., Kuechler, A., Villard, L., Goizet, C., Courdier, C., Bayat, A., Rossi, A., Julia, S., Bruel, A. L., Tran Mau-Them, F., Nambot, S., Lehalle, D., Willems, M., Lespinasse, J., Ghoumid, Jamal, Caumes, Roselyne, Smol, Thomas, El Chehadeh, S., Schaefer, E., Abi-Warde, M. T., Keren, B., Afenjar, A., Tabet, A. C., Levy, J., Maruani, A., Aledo-Serrano, Á., Garming, W., Milleret-Pignot, C., Chassevent, A., Koopmans, M., Verbeek, N. E., Person, R., Belles, R., Bellus, G., Salbert, B. A., Kaiser, F. J., Mazzola, L., Convers, P., Perrin, L., Piton, A., Wiegand, G., Accogli, A., Brancati, F., Benfenati, F., Chatron, N., Lewis-Smith, D., Thomas, R. H., Zara, F., Striano, P., Lesca, G., Depienne, C.

المساهمون: Université de Lille, CHU Lille, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364, Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 RADEME

مصطلحات موضوعية: SYN1, synapsins, reflex epilepsy, genotype-phenotype correlation, neurodevelopmental disorders, autism spectrum disorders

وصف الملف: application/rdf+xml; charset=utf-8; application/pdf

Relation: Frontiers in Cell and Developmental Biology; Front Cell Dev Biol; http://hdl.handle.net/20.500.12210/84132

الاتاحة: https://hdl.handle.net/20.500.12210/84132

المؤلفون: Langhammer, F, Maroofian, R, Badar, R, Gregor, A, Rochman, M, Ratliff, JB, Koopmans, M, Herget, T, Hempel, M, Kortüm, F, Heron, D, Mignot, C, Keren, B, Brooks, S, Botti, C, Ben-Zeev, B, Argilli, E, Sherr, EH, Gowda, VK, Srinivasan, VM, Bakhtiari, S, Kruer, MC, Salih, MA, Kuechler, A, Muller, EA, Blocker, K, Kuismin, O, Park, KL, Kochhar, A, Brown, K, Ramanathan, S, Clark, RD, Elgizouli, M, Melikishvili, G, Tabatadze, N, Stark, Z, Mirzaa, GM, Ong, J, Grasshoff, U, Bevot, A, von Wintzingerode, L, Jamra, RA, Hennig, Y, Goldenberg, P, Al Alam, C, Charif, M, Boulouiz, R, Bellaoui, M, Amrani, R, Al Mutairi, F, Tamim, AM, Abdulwahab, F, Alkuraya, FS, Khouj, EM, Alvi, JR, Sultan, T, Hashemi, N, Karimiani, EG, Ashrafzadeh, F, Imannezhad, S, Efthymiou, S, Houlden, H, Sticht, H, Zweier, C

المصدر: Genetics in Medicine , 25 (8) , Article 100885. (2023)

مصطلحات موضوعية: Developmental and epileptic encephalopathy, Intellectual disability, Neurodevelopmental disorder, RHOBTB2, Seizures

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10173027/1/RHOBTB_manuscript_230331_without%20trackchanges.docx.pdf; https://discovery.ucl.ac.uk/id/eprint/10173027/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10173027/1/RHOBTB_manuscript_230331_without%20trackchanges.docx.pdf
https://discovery.ucl.ac.uk/id/eprint/10173027/

المؤلفون: Sheppard, SE, Bryant, L, Wickramasekara, RN, Vaccaro, C, Robertson, B, Hallgren, J, Hulen, J, Watson, CJ, Faundes, V, Duffourd, Y, Lee, P, Simon, MC, de la Cruz, X, Padilla, N, Flores-Mendez, M, Akizu, N, Smiler, J, Pellegrino Da Silva, R, Li, D, March, M, Diaz-Rosado, A, Peixoto de Barcelos, I, Choa, ZX, Lim, CY, Dubourg, C, Journel, H, Demurger, F, Mulhern, M, Akman, C, Lippa, N, Andrews, M, Baldridge, D, Constantino, J, van Haeringen, A, Snoeck-Streef, I, Chow, P, Hing, A, Graham, JM, Au, M, Faivre, L, Shen, W, Mao, R, Palumbos, J, Viskochil, D, Gahl, W, Tifft, C, Macnamara, E, Hauser, N, Miller, R, Maffeo, J, Afenjar, A, Doummar, D, Keren, B, Arn, P, Macklin-Mantia, S, Meerschaut, I, Callewaert, B, Reis, A, Zweier, C, Brewer, C, Saggar, A, Smeland, MF, Kumar, A, Elmslie, F, Deshpande, C, Nizon, M, Cogne, B, van Ierland, Y, Wilke, M, van Slegtenhorst, M, Koudijs, S, Chen, JY, Dredge, D, Pier, D, Wortmann, S, Kamsteeg, E-J, Koch, J, Haynes, D, Pollack, L, Titheradge, H, Ranguin, K, Denommé-Pichon, A-S, Weber, S, Pérez de la Fuente, R, Sánchez Del Pozo, J, Lezana Rosales, JM, Joset, P, Steindl, K, Rauch, A, Mei, D, Mari, F, Guerrini, R, Lespinasse, J, Tran Mau-Them, F, Philippe, C, Dauriat, B, Raymond, L, Moutton, S, Cueto-González, AM, Tan, TY, Mignot, C, Grotto, S, Renaldo, F, Drivas, TG, Hennessy, L, Raper, A, Parenti, I, Kaiser, FJ, Kuechler, A, Busk, ØL, Islam, L, Siedlik, JA, Henderson, LB, Juusola, J, Person, R, Schnur, RE, Vitobello, A, Banka, S, Bhoj, EJ, Stessman, HAF

وصف الملف: application/pdf; application/zip

Relation: https://openaccess.sgul.ac.uk/id/eprint/115477/1/sciadv.ade1463.pdf; https://openaccess.sgul.ac.uk/id/eprint/115477/6/sciadv.ade1463_sm.pdf; https://openaccess.sgul.ac.uk/id/eprint/115477/11/sciadv.ade1463_tables_s1_and_s5_to_s10.zip; Sheppard, SE; Bryant, L; Wickramasekara, RN; Vaccaro, C; Robertson, B; Hallgren, J; Hulen, J; Watson, CJ; Faundes, V; Duffourd, Y; et al. Sheppard, SE; Bryant, L; Wickramasekara, RN; Vaccaro, C; Robertson, B; Hallgren, J; Hulen, J; Watson, CJ; Faundes, V; Duffourd, Y; Lee, P; Simon, MC; de la Cruz, X; Padilla, N; Flores-Mendez, M; Akizu, N; Smiler, J; Pellegrino Da Silva, R; Li, D; March, M; Diaz-Rosado, A; Peixoto de Barcelos, I; Choa, ZX; Lim, CY; Dubourg, C; Journel, H; Demurger, F; Mulhern, M; Akman, C; Lippa, N; Andrews, M; Baldridge, D; Constantino, J; van Haeringen, A; Snoeck-Streef, I; Chow, P; Hing, A; Graham, JM; Au, M; Faivre, L; Shen, W; Mao, R; Palumbos, J; Viskochil, D; Gahl, W; Tifft, C; Macnamara, E; Hauser, N; Miller, R; Maffeo, J; Afenjar, A; Doummar, D; Keren, B; Arn, P; Macklin-Mantia, S; Meerschaut, I; Callewaert, B; Reis, A; Zweier, C; Brewer, C; Saggar, A; Smeland, MF; Kumar, A; Elmslie, F; Deshpande, C; Nizon, M; Cogne, B; van Ierland, Y; Wilke, M; van Slegtenhorst, M; Koudijs, S; Chen, JY; Dredge, D; Pier, D; Wortmann, S; Kamsteeg, E-J; Koch, J; Haynes, D; Pollack, L; Titheradge, H; Ranguin, K; Denommé-Pichon, A-S; Weber, S; Pérez de la Fuente, R; Sánchez Del Pozo, J; Lezana Rosales, JM; Joset, P; Steindl, K; Rauch, A; Mei, D; Mari, F; Guerrini, R; Lespinasse, J; Tran Mau-Them, F; Philippe, C; Dauriat, B; Raymond, L; Moutton, S; Cueto-González, AM; Tan, TY; Mignot, C; Grotto, S; Renaldo, F; Drivas, TG; Hennessy, L; Raper, A; Parenti, I; Kaiser, FJ; Kuechler, A; Busk, ØL; Islam, L; Siedlik, JA; Henderson, LB; Juusola, J; Person, R; Schnur, RE; Vitobello, A; Banka, S; Bhoj, EJ; Stessman, HAF (2023) Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Sci Adv, 9 (10). eade1463. ISSN 2375-2548 https://doi.org/10.1126/sciadv.ade1463 SGUL Authors: Elmslie, Frances

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/115477/
https://openaccess.sgul.ac.uk/id/eprint/115477/1/sciadv.ade1463.pdf
https://openaccess.sgul.ac.uk/id/eprint/115477/6/sciadv.ade1463_sm.pdf
https://openaccess.sgul.ac.uk/id/eprint/115477/11/sciadv.ade1463_tables_s1_and_s5_to_s10.zip
https://doi.org/10.1126/sciadv.ade1463