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1دورية أكاديمية
المؤلفون: Grochowski, CM, Bengtsson, JD, Du, H, Gandhi, M, Lun, MY, Mehaffey, MG, Park, K, Höps, W, Benito-Garagorri, E, Hasenfeld, P, Korbel, JO, Mahmoud, M, Paulin, LF, Jhangiani, SN, Muzny, DM, Fatih, JM, Gibbs, RA, Pendleton, M, Harrington, E, Juul, S, Lindstrand, A, Sedlazeck, FJ, Pehlivan, D, Lupski, JR, Carvalho, CMB
المصدر: bioRxiv : the preprint server for biology.
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Marom, R, Burrage, LC, Venditti, R, Clement, A, Blanco-Sanchez, B, Jain, M, Scott, DA, Rosenfeld, JA, Sutton, VR, Shinawi, M, Mirzaa, G, DeVile, C, Roberts, R, Calder, AD, Allgrove, J, Grafe, I, Lanza, DG, Li, XH, Joeng, KS, Lee, YC, Song, IW, Sliepka, JM, Batkovskyte, D, Washington, M, Dawson, BC, Jin, ZX, Jiang, MM, Chen, S, Chen, YQ, Tran, AA, Emrick, LT, Murdock, DR, Hanchard, NA, Zapata, GE, Mehta, NR, Weis, MA, Scott, AA, Tremp, BA, Phillips, JB, Wegner, J, Taylor-Miller, T, Gibbs, RA, Muzny, DM, Jhangiani, SN, Hicks, J, Stottmann, RW, Dickinson, ME, Seavitt, JR, Heaney, JD, Eyre, DR, Westerfield, M, De Matteis, MA, Lee, B
المصدر: American journal of human genetics. 108(9):1710-1724
مصطلحات موضوعية: Medicin och hälsovetenskap
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3دورية أكاديمية
المؤلفون: Zhang, CF, Mazzeu, JF, Eisfeldt, J, Grochowski, CM, White, J, Akdemir, ZC, Jhangiani, SN, Muzny, DM, Gibbs, RA, Lindstrand, A, Lupski, JR, Sutton, VR, Carvalho, CMB
المصدر: American journal of medical genetics. Part A. 185(12):3593-3600
مصطلحات موضوعية: Medicin och hälsovetenskap
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4دورية أكاديمية
المؤلفون: Lam, MT, Coppola, S, Krumbach, OHF, Prencipe, G, Insalaco, A, Cifaldi, C, Brigida, I, Zara, E, Scala, S, Di Cesare, S, Martinelli, S, Di Rocco, M, Pascarella, A, Niceta, M, Pantaleoni, F, Ciolfi, A, Netter, P, Carisey, AF, Diehl, M, Akbarzadeh, M, Conti, F, Merli, P, Pastore, A, Mortera, SL, Camerini, S, Farina, L, Buchholzer, M, Pannone, L, Cao, TN, Coban-Akdemir, ZH, Jhangiani, SN, Muzny, DM, Gibbs, RA, Basso-Ricci, L, Chiriaco, M, Dvorsky, R, Putignani, L, Carsetti, R, Janning, P, Stray-Pedersen, A, Erichsen, HC, Horne, A, Bryceson, YT, Torralba-Raga, L, Ramme, K, Rosti, V, Bracaglia, C, Messia, V, Palma, P, Finocchi, A, Locatelli, F, Chinn, IK, Lupski, JR, Mace, EM, Cancrini, C, Aiuti, A, Ahmadian, MR, Orange, JS, De Benedetti, F, Tartaglia, M
المصدر: The Journal of experimental medicine. 216(12):2778-2799
مصطلحات موضوعية: Medicin och hälsovetenskap
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5دورية أكاديمية
المؤلفون: Cogne, B, Ehresmann, S, Beauregard-Lacroix, E, Rousseau, J, Besnard, T, Garcia, T, Petrovski, S, Avni, S, McWalter, K, Blackburn, PR, Sanders, SJ, Uguen, K, Harris, J, Cohen, JS, Blyth, M, Lehman, A, Berg, J, Li, MH, Kini, U, Joss, S, von der Lippe, C, Gordon, CT, Humberson, JB, Robak, L, Scott, DA, Sutton, VR, Skraban, CM, Johnston, JJ, Poduri, A, Nordenskjold, M, Shashi, V, Gerkes, EH, Bongers, EMHF, Gilissen, C, Zarate, YA, Kvarnung, M, Lally, KP, Kulch, PA, Daniels, B, Hernandez-Garcia, A, Stong, N, McGaughran, J, Retterer, K, Tveten, K, Sullivan, J, Geisheker, MR, Stray-Pedersen, A, Tarpinian, JM, Klee, EW, Sapp, JC, Zyskind, J, Holla, OL, Bedoukian, E, Filippini, F, Guimier, A, Picard, A, Busk, OL, Punetha, J, Pfundt, R, Lindstrand, A, Nordgren, A, Kalb, F, Desai, M, Ebanks, AH, Jhangiani, SN, Dewan, T, Akdemir, ZHC, Telegrafi, A, Zackai, EH, Begtrup, A, Song, XF, Toutain, A, Wentzensen, IM, Odent, S, Bonneau, D, Latypova, X, Deb, W, Redon, S, Bilan, F, Legendre, M, Troyer, C, Whitlock, K, Caluseriu, O, Murphree, MI, Pichurin, PN, Agre, K, Gavrilova, R, Rinne, T, Park, M, Shain, C, Heinzen, EL, Xiao, R, Amiel, J, Lyonnet, S, Isidor, B, Biesecker, LG, Lowenstein, D, Posey, JE, Denomme-Pichon, AS, Ferec, C, Yang, XJ, Rosenfeld, JA, Gilbert-Dussardier, B, Audebert-Bellanger, S, Redon, R, Stessman, HAF, Nellaker, C, Yang, YP, Lupski, JR, Goldstein, DB, Eichler, EE, Bolduc, F, Bezieau, S, Kury, S, Campeau, PM
المصدر: American journal of human genetics. 104(3):530-541
مصطلحات موضوعية: Medicin och hälsovetenskap
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6دورية أكاديمية
المؤلفون: Marafi, D, Fatih, JM, Kaiyrzhanov, R, Ferla, MP, Gijavanekar, C, Al-Maraghi, A, Liu, N, Sites, E, Alsaif, HS, Al-Owain, M, Zakkariah, M, El-Anany, E, Guliyeva, U, Guliyeva, S, Gaba, C, Haseeb, A, Alhashem, AM, Danish, E, Karageorgou, V, Beetz, C, Subhi, AA, Mullegama, SV, Torti, E, Sebastin, M, Breilyn, MS, Duberstein, S, Abdel-Hamid, MS, Mitani, T, Du, H, Rosenfeld, JA, Jhangiani, SN, Coban Akdemir, Z, Gibbs, RA, Taylor, JC, Fakhro, KA, Hunter, JV, Pehlivan, D, Zaki, MS, Gleeson, JG, Maroofian, R, Houlden, H, Posey, JE, Sutton, VR, Alkuraya, FS, Elsea, SH, Lupski, JR
المصدر: Brain , 145 (3) pp. 909-924. (2022)
مصطلحات موضوعية: SLC38A3, biallelic, glutamate transporter, glutamate/GABA-glutamine cycle
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10139262/1/awab369.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10139262Test/
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7دورية أكاديمية
المؤلفون: Wrensch, Margaret, Jalali, A, Amirian, ES, Bainbridge, MN, Armstrong, GN, Liu, Y, Tsavachidis, S, Jhangiani, SN, Plon, SE, Lau, CC, Claus, EB
الوصول الحر: https://escholarship.org/uc/item/44j4p54fTest
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8دورية أكاديمية
المؤلفون: Dworschak, GC, Punetha, J, Kalanithy, JC, Mingardo, E, Erdem, HB, Akdemir, ZC, Karaca, E, Mitani, T, Marafi, D, Fatih, JM, Jhangiani, SN, Hunter, JV, Dakal, TC, Dhabhai, B, Dabbagh, O, Alsaif, HS, Alkuraya, FS, Maroofian, R, Houlden, H, Efthymiou, S, Dominik, N, Salpietro, V, Sultan, T, Haider, S, Bibi, F, Thiele, H, Hoefele, J, Riedhammer, KM, Wagner, M, Guella, I, Demos, M, Keren, B, Buratti, J, Charles, P, Nava, C, Heron, D, Heide, S, Valkanas, E, Waddell, LB, Jones, KJ, Oates, EC, Cooper, ST, MacArthur, D, Syrbe, S, Ziegler, A, Platzer, K, Okur, V, Chung, WK, O'Shea, SA, Alcalay, R, Fahn, S, Mark, PR, Guerrini, R, Vetro, A, Hudson, B, Schnur, RE, Hoganson, GE, Burton, JE, McEntagart, M, Lindenberg, T, Yilmaz, O, Odermatt, B, Pehlivan, D, Posey, JE, Lupski, JR, Reutter, H
المصدر: Genetics in Medicine (2021)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10129773/1/s41436-021-01196-9.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10129773Test/
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9دورية أكاديمية
المؤلفون: Efthymiou, S, Herman, I, Rahman, F, Anwar, N, Maroofian, R, Yip, J, Mitani, T, Calame, DG, Hunter, JV, Sutton, VR, Yilmaz Gulec, E, Duan, R, Fatih, JM, Marafi, D, Pehlivan, D, Jhangiani, SN, Gibbs, RA, Posey, JE, SYNAPS Study Group, Maqbool, S, Lupski, JR, Houlden, H
المصدر: American Journal of Medical Genetics Part A , 185 (7) pp. 2241-2249. (2021)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10127750/1/ajmg.a.62221.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10127750Test/
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10دورية أكاديمية
المؤلفون: Mitani T, Isikay S, Gezdirici A, Gulec EY, Punetha J, Fatih JM, Herman I, Akay G, Du H, Calame DG, Ayaz A, Tos T, Yesil G, Aydin H, Geckinli B, Elcioglu N, Candan S, Sezer O, Erdem HB, Gul D, Demiral E, Elmas M, Yesilbas O, Kilic B, Gungor S, Ceylan AC, Bozdogan S, Ozalp O, Cicek S, Aslan H, Yalcintepe S, Topcu V, Bayram Y, Grochowski CM, Jolly A, Dawood M, Duan R, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM, Baylor-Hopkins Center for Mendelian Genomics, Marafi D, Akdemir ZC, Karaca E, Carvalho CMB, Gibbs RA, Posey JE, Lupski JR, Pehlivan D.
العلاقة: Am J Hum Genet; https://hdl.handle.net/20.500.12645/37689Test
الإتاحة: https://doi.org/20.500.12645/37689Test
https://doi.org/10.1016/j.ajhg.2021.08.009Test
https://hdl.handle.net/20.500.12645/37689Test