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1دورية أكاديمية
المؤلفون: Rosenhahn, E, O'Brien, TJ, Zaki, MS, Sorge, I, Wieczorek, D, Rostasy, K, Vitobello, A, Nambot, S, Alkuraya, FS, Hashem, MO, Alhashem, A, Tabarki, B, Alamri, AS, Al Safar, AH, Bubshait, DK, Alahmady, NF, Gleeson, JG, Abdel-Hamid, MS, Lesko, N, Ygberg, S, Correia, SP, Wredenberg, A, Alavi, S, Seyedhassani, SM, Nasab, ME, Hussien, H, Omar, TEI, Harzallah, I, Touraine, R, Tajsharghi, H, Morsy, H, Houlden, H, Shahrooei, M, Ghavideldarestani, M, Abdel-Salam, GMH, Torella, A, Zanobio, M, Terrone, G, Brunetti-Pierri, N, Omrani, A, Hentschel, J, Lemke, JR, Sticht, H, Abou Jamra, R, Brown, AEX, Maroofian, R, Platzer, K
المصدر: American journal of human genetics. 109(8):1421-1435
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
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
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3دورية أكاديمية
المؤلفون: Le Duc, D, Giulivi, C, Hiatt, SM, Napoli, E, Panoutsopoulos, A, De Crescenzo, AH, Kotzaeridou, U, Syrbe, S, Anagnostou, E, Azage, M, Bend, R, Begtrup, A, Brown, NJ, Büttner, B, Cho, MT, Cooper, GM, Doering, JH, Dubourg, C, Everman, DB, Hildebrand, MS, Santos, FJR, Kellam, B, Keller-Ramey, J, Lemke, JR, Liu, S, Niyazov, D, Payne, K, Person, R, Quélin, C, Schnur, RE, Smith, BT, Strober, J, Walker, S, Wallis, M, Walsh, L, Yang, S, Yuen, RKC, Ziegler, A, Sticht, H, Pride, MC, Orosco, L, Martínez-Cerdenõ, V, Silverman, JL, Crawley, JN, Scherer, SW, Zarbalis, KS, Jamra, R
المصدر: Brain : a journal of neurology. 142(11)
مصطلحات موضوعية: Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
URL الوصول: https://escholarship.org/uc/item/3hj2q3k2
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4دورية أكاديمية
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
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5مورد إلكتروني
المؤلفون: Le Duc, D, Velluva, A, Cassatt-Johnstone, M, Olsen, R-A, Baleka, S, Lin, C-C, Lemke, JR, Southon, JR, Burdin, A, Wang, M-S, Grunewald, S, Rosendahl, W, Joger, U, Rutschmann, S, Hildebrandt, TB, Fritsch, G, Estes, JA, Kelso, J, Dalén, L, Hofreiter, M, Shapiro, B, Schöneberg, T
مصطلحات الفهرس: Journal Article
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6مورد إلكتروني
المؤلفون: Bayat, A, Valles-Ibanez, G, Pendziwiat, M, Knaus, A, Alt, K, Biamino, E, Bley, A, Calvert, S, Carney, P, Caro-Llopis, A, Ceulemans, B, Cousin, J, Davis, S, Portes, V, Edery, P, England, E, Ferreira, C, Freeman, J, Gener, B, Gorce, M, Heron, D, Hildebrand, MS, Jezela-Stanek, A, Jouk, P-S, Keren, B, Kloth, K, Kluger, G, Kuhn, M, Lemke, JR, Li, H, Martinez, F, Maxton, C, Mefford, HC, Merla, G, Mierzewska, H, Muir, A, Monfort, S, Nicolai, J, Norman, J, O'Grady, G, Oleksy, B, Orellana, C, Orec, LE, Peinhardt, C, Pronicka, E, Rosello, M, Santos-Simarro, F, Schwaibold, EMC, Stegmann, APA, Stumpel, CT, Szczepanik, E, Terczynska, I, Thevenon, J, Tzschach, A, Van Bogaert, P, Vittorini, R, Walsh, S, Weckhuysen, S, Weissman, B, Wolfe, L, Reymond, A, De Nittis, P, Poduri, A, Olson, H, Striano, P, Lesca, G, Scheffer, IE, Moller, RS, Sadleir, LG
مصطلحات الفهرس: Journal Article
URL:
http://hdl.handle.net/11343/297831
NHMRC/2006841 -
7مورد إلكتروني
المؤلفون: Datta, AN, Bahi-Buisson, N, Bienvenu, T, Buerki, SE, Gardiner, F, Cross, JH, Heron, B, Kaminska, A, Korff, CM, Lepine, A, Lesca, G, McTague, A, Mefford, HC, Mignot, C, Milh, M, Piton, A, Pressler, RM, Ruf, S, Sadleir, LG, de Saint Martin, A, Van Gassen, K, Verbeek, NE, Ville, D, Villeneuve, N, Zacher, P, Scheffer, IE, Lemke, JR
مصطلحات الفهرس: Journal Article
URL:
http://hdl.handle.net/11343/268241
NHMRC/1091593 -
8مورد إلكتروني
المؤلفون: Gregor, A, Meerbrei, T, Gerstner, T, Toutain, A, Lynch, SA, Stals, K, Maxton, C, Lemke, JR, Bernat, JA, Bombei, HM, Foulds, N, Hunt, D, Kuechler, A, Beygo, J, Stobe, P, Bouman, A, Palomares-Bralo, M, Santos-Simarro, F, Garcia-Minaur, S, Pacio-Miguez, M, Popp, B, Vasileiou, G, Hebebrand, M, Reis, A, Schuhmann, S, Krumbiegel, M, Brown, NJ, Sparber, P, Melikyan, L, Bessonova, L, Cherevatova, T, Sharkov, A, Shcherbakova, N, Dabir, T, Kini, U, Schwaibold, EMC, Haack, TB, Bertoli, M, Hoffjan, S, Falb, R, Shinawi, M, Sticht, H, Zweier, C
مصطلحات الفهرس: Journal Article
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9مورد إلكتروني
المؤلفون: Motelow, JE, Povysil, G, Dhindsa, RS, Stanley, KE, Allen, AS, Feng, Y-CA, Howrigan, DP, Abbott, LE, Tashman, K, Cerrato, F, Cusick, C, Singh, T, Heyne, H, Byrnes, AE, Churchhouse, C, Watts, N, Solomonson, M, Lal, D, Gupta, N, Neale, BM, Cavalleri, GL, Cossette, P, Cotsapas, C, De Jonghe, P, Dixon-Salazar, T, Guerrini, R, Hakonarson, H, Heinzen, EL, Helbig, I, Kwan, P, Marson, AG, Petrovski, S, Kamalakaran, S, Sisodiya, SM, Stewart, R, Weckhuysen, S, Depondt, C, Dlugos, DJ, Scheffer, IE, Striano, P, Freyer, C, Krause, R, May, P, McKenna, K, Regan, BM, Bennett, CA, Leu, C, Leech, SL, O'Brien, TJ, Todaro, M, Stamberger, H, Andrade, DM, Ali, QZ, Sadoway, TR, Krestel, H, Schaller, A, Papacostas, SS, Kousiappa, I, Tanteles, GA, Christou, Y, Sterbova, K, Vlckova, M, Sedlackova, L, Lassuthova, P, Klein, KM, Rosenow, F, Reif, PS, Knake, S, Neubauer, BA, Zimprich, F, Feucht, M, Reinthaler, EM, Kunz, WS, Zsurka, G, Surges, R, Baumgartner, T, von Wrede, R, Pendziwiat, M, Muhle, H, Rademacher, A, van Baalen, A, von Spiczak, S, Stephani, U, Afawi, Z, Korczyn, AD, Kanaan, M, Canavati, C, Kurlemann, G, Muller-Schluter, K, Kluger, G, Haeusler, M, Blatt, I, Lemke, JR, Krey, I, Weber, YG, Wolking, S, Becker, F, Lauxmann, S, Bosselmann, C, Kegele, J, Hengsbach, C, Rau, S, Steinhoff, BJ, Schulze-Bonhage, A, Borggraefe, I, Schankin, CJ, Schubert-Bast, S, Schreiber, H, Mayer, T, Korinthenberg, R, Brockmann, K, Wolff, M, Dennig, D, Madeleyn, R, Kalviainen, R, Saarela, A, Timonen, O, Linnankivi, T, Lehesjoki, A-E, Rheims, S, Lesca, G, Ryvlin, P, Maillard, L, Valton, L, Derambure, P, Bartolomei, F, Hirsch, E, Michel, V, Chassoux, F, Rees, M, Chung, S-K, Pickrell, WO, Powell, R, Baker, MD, Fonferko-Shadrach, B, Lawthom, C, Anderson, J, Schneider, N, Balestrini, S, Zagaglia, S, Braatz, V, Johnson, MR, Auce, P, Sills, GJ, Baum, LW, Sham, PC, Cherny, SS, Lui, CHT, Delanty, N, Doherty, CP, Shukralla, A, El-Naggar, H, Widdess-Walsh, P, Barisi, N, Canafoglia, L, Franceschetti, S, Castellotti, B, Granata, T, Ragona, F, Zara, F, Iacomino, M, Riva, A, Madia, F, Vari, MS, Salpietro, V, Scala, M, Mancardi, MM, Nobili, L, Amadori, E, Giacomini, T, Bisulli, F, Pippucci, T, Licchetta, L, Minardi, R, Tinuper, P, Muccioli, L, Mostacci, B, Gambardella, A, Labate, A, Annesi, G, Manna, L, Gagliardi, M, Parrini, E, Mei, D, Vetro, A, Bianchini, C, Montomoli, M, Doccini, V, Barba, C, Hirose, S, Ishii, A, Suzuki, T, Inoue, Y, Yamakawa, K, Beydoun, A, Nasreddine, W, Zgheib, NK, Tumiene, B, Utkus, A, Sadleir, LG, King, C, Caglayan, SH, Arslan, M, Yapici, Z, Topaloglu, P, Kara, B, Yis, U, Turkdogan, D, Gundogdu-Eken, A, Bebek, N, Tsai, M-H, Ho, C-J, Lin, C-H, Lin, K-L, Chou, I-J, Poduri, A, Shiedley, BR, Shain, C, Noebels, JL, Goldman, A, Busch, RM, Jehi, L, Najm, IM, Ferguson, L, Khoury, J, Glauser, TA, Clark, PO, Buono, RJ, Ferraro, TN, Sperling, MR, Lo, W, Privitera, M, French, JA, Schachter, S, Kuzniecky, R, Devinsky, O, Hegde, M, Greenberg, DA, Ellis, CA, Goldberg, E, Helbig, KL, Cosico, M, Vaidiswaran, P, Fitch, E, Berkovic, SF, Lerche, H, Lowenstein, DH, Goldstein, DB
مصطلحات الفهرس: Journal Article
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10
المؤلفون: Johannesen, Km, Mitter, D, Janowski, R, Roth, C, Toulouse, J, Poulat, Al, Ville, Dm, Chatron, N, Brilstra, E, Geleijns, K, Born, Ap, McLean, S, Nugent, K, Baynam, G, Poulton, C, Dreyer, L, Gration, D, Schulz, S, Dieckmann, A, Helbig, Kl, Merkenschlager, A, Jamra, R, Finck, A, Gardella, E, Hjalgrim, H, Mirzaa, G, Brancati, F, Bierhals, T, Denecke, J, Hempel, M, Lemke, Jr, Rubboli, G, Muschke, P, Guerrini, R, Vetro, A, Niessing, D, Lesca, G, Møller, Rs
مصطلحات موضوعية: TRANSFER-RNA-SYNTHETASE, ILAE COMMISSION, POSITION PAPER, MUTATIONS, CLASSIFICATION, DEFICIENCY, FEATURES
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______310::a538ac3dabfcc002c6761bae3e1379b3
http://hdl.handle.net/2158/1192687