-
1دورية أكاديمية
المؤلفون: Schober, FA, Tang, JX, Sergeant, K, Moedas, MF, Zierz, CM, Moore, D, Smith, C, Lewis, D, Guha, N, Hopton, S, Falkous, G, Lam, A, Pyle, A, Poulton, J, Gorman, GS, Taylor, RW, Freyer, C, Wredenberg, A
المصدر: Human molecular genetics. 31(12):2049-2062
مصطلحات موضوعية: Medicin och hälsovetenskap
-
2دورية أكاديمية
المؤلفون: Congreve, JVJ, Shi, Y, Tutt, NC, Taylor, RW, Bumby, C, Dennis, AR, Druiff, H, Weerakonda Arachchilage, D, Durrell, JH, Cardwell, DA
مصطلحات موضوعية: 40 Engineering, 4016 Materials Engineering
وصف الملف: text/xml; application/pdf
-
3دورية أكاديمية
المؤلفون: Congreve, JVJ, Shi, Y, Druiff, H, Dennis, AR, Taylor, RW, Bumby, CW, Cardwell, DA, Durrell, JH
مصطلحات موضوعية: 40 Engineering, 51 Physical Sciences, 5104 Condensed Matter Physics
وصف الملف: text/xml; application/pdf
-
4دورية أكاديمية
المؤلفون: Bisschoff, M, Smuts, I, Dercksen, M, Schoonen, M, Vorster, BC, van der Watt, G, Spencer, C, Naidu, K, Henning, F, Meldau, S, McFarland, R, Taylor, RW, Patel, K, Fassad, MR, Vandrovcova, J, Wanders, RJA, van der Westhuizen, FH
المصدر: Orphanet Journal of Rare Diseases , 19 (1) , Article 15. (2024)
مصطلحات موضوعية: Multiple acyl-CoA dehydrogenase defciency, MADD, Glutaric aciduria type II, ETFDH, Ribofavin, South Africa, International Centre for Genomic Medicine in Neuromuscular Diseases, ICGNMD
وصف الملف: application/pdf
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10186147/1/s13023-023-03014-8.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10186147Test/
-
5دورية أكاديمية
المؤلفون: Kaiyrzhanov, R, Rad, A, Lin, S-J, Bertoli-Avella, A, Kallemeijn, WW, Godwin, A, Zaki, MS, Huang, K, Lau, T, Petree, C, Efthymiou, S, Karimiani, EG, Hempel, M, Normand, EA, Rudnik-Schöneborn, S, Schatz, UA, Baggelaar, MP, Ilyas, M, Sultan, T, Alvi, JR, Ganieva, M, Fowler, B, Aanicai, R, Tayfun, GA, Al Saman, A, Alswaid, A, Amiri, N, Asilova, N, Shotelersuk, V, Yeetong, P, Azam, M, Babaei, M, Monajemi, GB, Mohammadi, P, Samie, S, Banu, SH, Pinto Basto, J, Kortüm, F, Bauer, M, Bauer, P, Beetz, C, Garshasbi, M, Issa, AH, Eyaid, W, Ahmed, H, Hashemi, N, Hassanpour, K, Herman, I, Ibrohimov, S, Abdul-Majeed, BA, Imdad, M, Isrofilov, M, Kaiyal, Q, Khan, S, Kirmse, B, Koster, J, Lourenço, CM, Mitani, T, Moldovan, O, Murphy, D, Najafi, M, Pehlivan, D, Rocha, ME, Salpietro, V, Schmidts, M, Shalata, A, Mahroum, M, Talbeya, JK, Taylor, RW, Vazquez, D, Vetro, A, Waterham, HR, Zaman, M, Schrader, TA, Chung, WK, Guerrini, R, Lupski, JR, Gleeson, J, Suri, M, Jamshidi, Y, Bhatia, KP, Vona, B, Schrader, M, Severino, M, Guille, M, Tate, EW, Varshney, GK, Houlden, H, Maroofian, R
وصف الملف: application/pdf; application/zip
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/115881/6/awad380.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/115881/14/awad380_supplementary_data.zipTest; https://openaccess.sgul.ac.uk/id/eprint/115881/1/awad380.pdfTest; Kaiyrzhanov, R; Rad, A; Lin, S-J; Bertoli-Avella, A; Kallemeijn, WW; Godwin, A; Zaki, MS; Huang, K; Lau, T; Petree, C; et al. Kaiyrzhanov, R; Rad, A; Lin, S-J; Bertoli-Avella, A; Kallemeijn, WW; Godwin, A; Zaki, MS; Huang, K; Lau, T; Petree, C; Efthymiou, S; Karimiani, EG; Hempel, M; Normand, EA; Rudnik-Schöneborn, S; Schatz, UA; Baggelaar, MP; Ilyas, M; Sultan, T; Alvi, JR; Ganieva, M; Fowler, B; Aanicai, R; Tayfun, GA; Al Saman, A; Alswaid, A; Amiri, N; Asilova, N; Shotelersuk, V; Yeetong, P; Azam, M; Babaei, M; Monajemi, GB; Mohammadi, P; Samie, S; Banu, SH; Pinto Basto, J; Kortüm, F; Bauer, M; Bauer, P; Beetz, C; Garshasbi, M; Issa, AH; Eyaid, W; Ahmed, H; Hashemi, N; Hassanpour, K; Herman, I; Ibrohimov, S; Abdul-Majeed, BA; Imdad, M; Isrofilov, M; Kaiyal, Q; Khan, S; Kirmse, B; Koster, J; Lourenço, CM; Mitani, T; Moldovan, O; Murphy, D; Najafi, M; Pehlivan, D; Rocha, ME; Salpietro, V; Schmidts, M; Shalata, A; Mahroum, M; Talbeya, JK; Taylor, RW; Vazquez, D; Vetro, A; Waterham, HR; Zaman, M; Schrader, TA; Chung, WK; Guerrini, R; Lupski, JR; Gleeson, J; Suri, M; Jamshidi, Y; Bhatia, KP; Vona, B; Schrader, M; Severino, M; Guille, M; Tate, EW; Varshney, GK; Houlden, H; Maroofian, R (2024) Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain, 147 (4). pp. 1436-1456. ISSN 1460-2156 https://doi.org/10.1093/brain/awad380Test SGUL Authors: Jamshidi, Yalda
الإتاحة: https://doi.org/10.1093/brain/awad380Test
https://openaccess.sgul.ac.uk/id/eprint/115881Test/
https://openaccess.sgul.ac.uk/id/eprint/115881/6/awad380.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/115881/14/awad380_supplementary_data.zipTest
https://openaccess.sgul.ac.uk/id/eprint/115881/1/awad380.pdfTest -
6دورية أكاديمية
المؤلفون: Töpf, A, Cox, D, Zaharieva, IT, Di Leo, V, Sarparanta, J, Jonson, PH, Sealy, IM, Smolnikov, A, White, RJ, Vihola, A, Savarese, M, Merteroglu, M, Wali, N, Laricchia, KM, Venturini, C, Vroling, B, Stenton, SL, Cummings, BB, Harris, E, Marini-Bettolo, C, Diaz-Manera, J, Henderson, M, Barresi, R, Duff, J, England, EM, Patrick, J, Al-Husayni, S, Biancalana, V, Beggs, AH, Bodi, I, Bommireddipalli, S, Bönnemann, CG, Cairns, A, Chiew, M-T, Claeys, KG, Cooper, ST, Davis, MR, Donkervoort, S, Erasmus, CE, Fassad, MR, Genetti, CA, Grosmann, C, Jungbluth, H, Kamsteeg, E-J, Lornage, X, Löscher, WN, Malfatti, E, Manzur, A, Martí, P, Mongini, TE, Muelas, N, Nishikawa, A, O'Donnell-Luria, A, Ogonuki, N, O'Grady, GL, O'Heir, E, Paquay, S, Phadke, R, Pletcher, BA, Romero, NB, Schouten, M, Shah, S, Smuts, I, Sznajer, Y, Tasca, G, Taylor, RW, Tuite, A, Van den Bergh, P, VanNoy, G, Voermans, NC, Wanschitz, JV, Wraige, E, Yoshimura, K, Oates, EC, Nakagawa, O, Nishino, I, Laporte, J, Vilchez, JJ, MacArthur, DG, Sarkozy, A, Cordell, HJ, Udd, B, Busch-Nentwich, EM, Muntoni, F, Straub, V
مصطلحات موضوعية: Animals, Humans, Male, Connectin, Muscle, Skeletal, Muscular Diseases, Mutation, Zebrafish
وصف الملف: 395 - 407
العلاقة: Nat Genet; Töpf, A., Cox, D., Zaharieva, I.T. et al. Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nat Genet 56, 395–407 (2024). https://doi.org/10.1038/s41588-023-01651-0Test; https://qmro.qmul.ac.uk/xmlui/handle/123456789/96240Test
الإتاحة: https://doi.org/10.1038/s41588-023-01651-0Test
https://qmro.qmul.ac.uk/xmlui/handle/123456789/96240Test -
7دورية أكاديمية
المؤلفون: Maas, RR, Iwanicka-Pronicka, K, Ucar, SK, Alhaddad, B, AlSayed, M, Al-Owain, MA, Al-Zaidan, HI, Balasubramaniam, S, Baric, I, Bubshait, DK, Burlina, A, Christodoulou, J, Chung, WK, Colombo, R, Darin, N, Freisinger, P, Silva, MTG, Grunewald, S, Haack, TB, van Hasselt, PM, Hikmat, O, Horster, F, Isohanni, P, Ramzan, K, Kovacs-Nagy, R, Krumina, Z, Martin-Hernandez, E, Mayr, JA, McClean, P, De Meirleir, L, Naess, K, Ngu, LH, Pajdowska, M, Rahman, S, Riordan, G, Riley, L, Roeben, B, Rutsch, F, Santer, R, Schiff, M, Seders, M, Sequeira, S, Sperl, W, Staufner, C, Synofzik, M, Taylor, RW, Trubicka, J, Tsiakas, K, Unal, O, Wassmer, E, Wedatilake, Y, Wolff, T, Prokisch, H, Morava, E, Pronicka, E, Wevers, RA, de Brouwer, AP, Wortmann, SB
المصدر: Annals of neurology. 82(6):1004-1015
مصطلحات موضوعية: Medicin och hälsovetenskap
-
8دورية أكاديمية
المؤلفون: Johnson, BJ, Hunter, KE, Golley, RK, Chadwick, P, Barba, A, Aberoumand, M, Libesman, S, Askie, L, Taylor, RW, Robledo, KP, Mihrshahi, S, O'Connor, DA, Hayes, AJ, Wolfenden, L, Wood, CT, Baur, LA, Rissel, C, Staub, LP, Taki, S, Smith, W, Sue-See, M, Marschner, IC, Espinoza, D, Thomson, JL, Larsen, JK, Verbestel, V, Stough, CO, Salvy, SJ, O'Reilly, SL, Karssen, LT, Rasmussen, FE, Messito, MJ, Gross, RS, Bryant, M, Paul, IM, Wen, LM, Hesketh, KD, Acero, CG, Campbell, K, Overby, NC, Linares, AM, Wasser, HM, Joshipura, KJ, Palacios, C, Maffeis, C, Thompson, AL, Ghaderi, A, Lakshman, R, Banna, JC, Oken, E, Rivera, MC, Perez-Exposito, AB, Taylor, BJ, Savage, JS, Roed, M, Goran, M, de la Haye, K, Anzman-Frasca, S, Seidler, AL
المصدر: BMJ open. 12(1):e048165
مصطلحات موضوعية: Medicin och hälsovetenskap
-
9دورية أكاديمية
المؤلفون: Hunter, KE, Johnson, BJ, Askie, L, Golley, RK, Baur, LA, Marschner, IC, Taylor, RW, Wolfenden, L, Wood, CT, Mihrshahi, S, Hayes, AJ, Rissel, C, Robledo, KP, O'Connor, DA, Espinoza, D, Staub, LP, Chadwick, P, Taki, S, Barba, A, Libesman, S, Aberoumand, M, Smith, WA, Sue-See, M, Hesketh, KD, Thomson, JL, Bryant, M, Paul, IM, Verbestel, V, Stough, CO, Wen, LM, Larsen, JK, O'Reilly, SL, Wasser, HM, Savage, JS, Ong, KK, Salvy, SJ, Messito, MJ, Gross, RS, Karssen, LT, Rasmussen, FE, Campbell, K, Linares, AM, Overby, NC, Palacios, C, Joshipura, KJ, Acero, CG, Lakshman, R, Thompson, AL, Maffeis, C, Oken, E, Ghaderi, A, Rivera, MC, Perez-Exposito, AB, Banna, JC, de la Haye, K, Goran, M, Roed, M, Anzman-Frasca, S, Taylor, BJ, Seidler, AL
المصدر: BMJ open. 12(1):e048166
مصطلحات موضوعية: Medicin och hälsovetenskap
-
10دورية أكاديمية
المؤلفون: Tuppen, HAL, Naess, K, Kennaway, NG, Al-Dosary, M, Lesko, N, Yarham, JW, Bruhn, H, Wibom, R, Nennesmo, I, Weleber, RG, Blakely, EL, Taylor, RW, McFarland, R
المصدر: European journal of human genetics : EJHG. 20(8):897-904
مصطلحات موضوعية: Medicin och hälsovetenskap
النص الكامل