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1دورية أكاديمية
المؤلفون: Winsvold, BS, Harder, AVE, Ran, C, Chalmer, MA, Dalmasso, MC, Ferkingstad, E, Tripathi, KP, Bacchelli, E, Borte, S, Fourier, C, Petersen, AS, Vijfhuizen, LS, Magnusson, SH, O'Connor, E, Bjornsdottir, G, Happola, P, Wang, YF, Callesen, I, Kelderman, T, Gallardo, VJ, de Boer, I, Olofsgard, FJ, Heinze, K, Lund, N, Thomas, LF, Hsu, CL, Pirinen, M, Hautakangas, H, Ribases, M, Guerzoni, S, Sivakumar, P, Yip, J, Heinze, A, Kucukali, F, Ostrowski, SR, Pedersen, OB, Kristoffersen, ES, Martinsen, AE, Artigas, MS, Lagrata, S, Cainazzo, MM, Adebimpe, J, Quinn, O, Gobel, C, Cirkel, A, Volk, AE, Heilmann-Heimbach, S, Skogholt, AH, Gabrielsen, ME, Wilbrink, LA, Danno, D, Mehta, D, Guobjartsson, DF, Rosendaal, FR, van Dijk, KW, Fronczek, R, Wagner, M, Scherer, M, Gobel, H, Sleegers, K, Sveinsson, OA, Pani, L, Zoli, M, Ramos-Quiroga, JA, Dardiotis, E, Steinberg, A, Riedel-Heller, S, Sjostrand, C, Thorgeirsson, TE, Stefansson, H, Southgate, L, Trembath, RC, Vandrovcova, J, Noordam, R, Paemeleire, K, Stefansson, K, Fann, CSJ, Waldenlind, E, Tronvik, E, Jensen, RH, Chen, SP, Houlden, H, Terwindt, GM, Kubisch, C, Maestrini, E, Vikelis, M, Pozo-Rosich, P, Belin, AC, Matharu, M, van den Maagdenberg, AMJM, Hansen, TF, Ramirez, A, Zwart, JA
المصدر: Annals of neurology. 94(4):713-726
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: O'Connor, E, Fourier, C, Ran, C, Sivakumar, P, Liesecke, F, Southgate, L, Harder, AVE, Vijfhuizen, LS, Yip, J, Giffin, N, Silver, N, Ahmed, F, Hostettler, IC, Davies, B, Cader, MZ, Simpson, BS, Sullivan, R, Efthymiou, S, Adebimpe, J, Quinn, O, Campbell, C, Cavalleri, GL, Vikelis, M, Kelderman, T, Paemeleire, K, Kilbride, E, Grangeon, L, Lagrata, S, Danno, D, Trembath, R, Wood, NW, Kockum, I, Winsvold, BS, Steinberg, A, Sjostrand, C, Waldenlind, E, Vandrovcova, J, Houlden, H, Matharu, M, Belin, AC
المصدر: Annals of neurology. 90(2):193-202
مصطلحات موضوعية: Medicin och hälsovetenskap
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3دورية 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/
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4دورية أكاديمية
المؤلفون: Kapferer-Seebacher, I, Pepin, M, Werner, R, Aitman, TJ, Nordgren, A, Stoiber, H, Thielens, N, Gaboriaud, C, Amberger, A, Schossig, A, Gruber, R, Giunta, C, Bamshad, M, Bjorck, E, Chen, C, Chitayat, D, Dorschner, M, Schmitt-Egenolf, M, Hale, CJ, Hanna, D, Hennies, HC, Heiss-Kisielewsky, I, Lindstrand, A, Lundberg, P, Mitchell, AL, Nickerson, DA, Reinstein, E, Rohrbach, M, Romani, N, Schmuth, M, Silver, R, Taylan, F, Vandersteen, A, Vandrovcova, J, Weerakkody, R, Yang, M, Pope, FM, Byers, PH, Zschocke, J
المصدر: American journal of human genetics. 99(5):1005-1014
مصطلحات موضوعية: Medicin och hälsovetenskap
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5دورية أكاديمية
المؤلفون: Wijngaard, R, Demidov, G, O’Gorman, L, Corominas-Galbany, J, Yaldiz, B, Steyaert, W, de Boer, E, Vissers, LELM, Kamsteeg, EJ, Pfundt, R, Swinkels, H, den Ouden, A, te Paske, IBAW, de Voer, RM, Faivre, L, Denommé-Pichon, AS, Duffourd, Y, Vitobello, A, Chevarin, M, Straub, V, Töpf, A, van der Kooi, AJ, Magrinelli, F, Rocca, C, Hanna, MG, Vandrovcova, J, Ossowski, S, Laurie, S, Gilissen, C
المصدر: European Journal of Human Genetics (2023)
مصطلحات موضوعية: Solve-RD consortium
وصف الملف: application/pdf
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10182476/1/Hanna_Mobile%20element%20insertions%20in%20rare%20diseases-%20a%20comparative%20benchmark%20and%20reanalysis%20of%2060,000%20exome%20samples_correction_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10182476Test/
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6دورية أكاديمية
المؤلفون: Wijngaard, R, Demidov, G, O’Gorman, L, Corominas-Galbany, J, Yaldiz, B, Steyaert, W, de Boer, E, Vissers, LELM, Kamsteeg, EJ, Pfundt, R, Swinkels, H, den Ouden, A, te Paske, IBAW, de Voer, RM, Faivre, L, Denommé-Pichon, AS, Duffourd, Y, Vitobello, A, Chevarin, M, Straub, V, Töpf, A, van der Kooi, AJ, Magrinelli, F, Rocca, C, Hanna, MG, Vandrovcova, J, Ossowski, S, Laurie, S, Gilissen, C
المصدر: European Journal of Human Genetics (2023) (In press).
مصطلحات موضوعية: Solve-RD consortium
وصف الملف: application/pdf
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10180214/1/s41431-023-01478-7.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10180214Test/
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7دورية أكاديمية
المؤلفون: Macken, WL, Falabella, M, Pizzamiglio, C, Woodward, CE, Scotchman, E, Chitty, LS, Polke, JM, Bugiardini, E, Hanna, MG, Vandrovcova, J, Chandler, N, Labrum, R, Pitceathly, RDS
المصدر: Expert Review of Molecular Diagnostics , 23 (9) pp. 797-814. (2023)
مصطلحات موضوعية: Bioinformatics, large-scale rearrangements, long-read sequencing, mitochondrial DNA, primary mitochondrial diseases
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10176202/1/Falabella_Enhanced%20mitochondrial%20genome%20analysis_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10176202Test/
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8دورية أكاديمية
المؤلفون: Lundin, JS, Vandrovcova, J, Song, B, Zhou, X, Zelada-Hedman, M, Werelius, B, Houlston, RS, Lindblom, A
المصدر: British journal of cancer. 100(10):1674-1679
مصطلحات موضوعية: Medicin och hälsovetenskap
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9دورية أكاديمية
المؤلفون: Robinson, KL, Liu, T, Vandrovcova, J, Halvarsson, B, Clendenning, M, Frebourg, T, Papadopoulos, N, Kinzler, KW, Vogelstein, B, Peltomaki, P, Kolodner, RD, Nilbert, M, Lindblom, A
المصدر: Journal of the National Cancer Institute. 99(4):291-299
مصطلحات موضوعية: Medicin och hälsovetenskap
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10دورية أكاديمية
المؤلفون: Djureinovic, T, Skoglund, J, Vandrovcova, J, Zhou, XL, Kalushkova, A, Iselius, L, Lindblom, A
المصدر: Gut. 55(3):362-366
مصطلحات موضوعية: Medicin och hälsovetenskap
النص الكامل