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1دورية أكاديمية
المؤلفون: Kalman, LV, Agundez, JAG, Appell, ML, Black, JL, Bell, GC, Boukouvala, S, Bruckner, C, Bruford, E, Caudle, K, Coulthard, SA, Daly, AK, Del Tredici, AL, den Dunnen, JT, Drozda, K, Everts, RE, Flockhart, D, Freimuth, RR, Gaedigk, A, Hachad, H, Hartshorne, T, Ingelman-Sundberg, M, Klein, TE, Lauschke, VM, Maglott, DR, McLeod, HL, McMillin, GA, Meyer, UA, Muller, DJ, Nickerson, DA, Oetting, WS, Pacanowski, M, Pratt, VM, Relling, MV, Roberts, A, Rubinstein, WS, Sangkuhl, K, Schwab, M, Scott, SA, Sim, SC, Thirumaran, RK, Toji, LH, Tyndale, RF, van Schaik, RHN, Whirl-Carrillo, M, Yeo, KTJ, Zanger, UM
المصدر: Clinical pharmacology and therapeutics. 99(2):172-185
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Out, AA, Tops, CMJ, Nielsen, M, Weiss, MM, van Minderhout, IJHM, Fokkema, IFAC, Buisine, MP, Claes, K, Colas, C, Fodde, R, Fostira, F, Franken, PF, Gaustadnes, M, Heinimann, K, Hodgson, SV, Hogervorst, FBL, Holinski-Feder, E, Lagerstedt-Robinson, K, Olschwang, S, van den Ouweland, AMW, Redeker, EJW, Scott, RJ, Vankeirsbilck, B, Gronlund, RV, Wijnen, JT, Wikman, FP, Aretz, S, Sampson, JR, Devilee, P, den Dunnen, JT, Hes, FJ
المصدر: Human mutation. 31(11):1205-1215
مصطلحات موضوعية: Medicin och hälsovetenskap
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3دورية أكاديمية
المؤلفون: Kohonen-Corish, MRJ, Al-Aama, JY, Auerbach, AD, Axton, M, Barash, CI, Bernstein, I, Beroud, C, Burn, J, Cunningham, F, Cutting, GR, den Dunnen, JT, Greenblatt, MS, Kaput, J, Katz, M, Lindblom, A, Macrae, F, Maglott, D, Moslein, G, Povey, S, Ramesar, R, Richards, S, Seminara, D, Sobrido, MJ, Tavtigian, S, Taylor, G, Vihinen, M, Winship, I, Cotton, RGH
المصدر: Human mutation. 31(12):1374-1381
مصطلحات موضوعية: Medicin och hälsovetenskap
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4دورية أكاديمية
المؤلفون: Bruder, CEG, Piotrowski, A, Gijsbers, AACJ, Andersson, R, Erickson, S, de Stahl, TD, Menzel, U, Sandgren, J, von Tell, D, Poplawski, A, Crowley, M, Crasto, C, Partridge, EC, Tiwari, H, Allison, DB, Komorowski, J, van Ommen, GJB, Boomsma, DI, Pedersen, NL, den Dunnen, JT, Wirdefeldt, K, Dumanski, JP
المصدر: American journal of human genetics. 82(3):763-771
مصطلحات موضوعية: Medicin och hälsovetenskap
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5دورية أكاديمية
المؤلفون: Shvetsova, E, Sofronova, A, Monajemi, R, Gagalova, K, Draisma, HHM, White, SJ, van Meurs, Joyce, Duijn, Cornelia, Hofman, Bert, Uitterlinden, André, Jhamai, Mila, Verbiest, Michael, Verkerk, Marijn, van Rooij, J, Isaacs, Aaron, Leeuwen, Elisa, Oven, Mannis, Karssen, Lennart, Koval, Slavik, Rivadeneira, Fernando, Estrada Gil, Karol, Medina Gomez, Maria, Oostra, Ben, Dunnen, JT, Swertz, MA, Wijmenga, C
المصدر: Shvetsova , E , Sofronova , A , Monajemi , R , Gagalova , K , Draisma , HHM , White , SJ , van Meurs , J , Duijn , C , Hofman , B , Uitterlinden , A , Jhamai , M , Verbiest , M , Verkerk , M , van Rooij , J , Isaacs , A , Leeuwen , E , Oven , M , Karssen , L , Koval , S , Rivadeneira , F , Estrada Gil , K , Medina Gomez , M , Oostra , B , Dunnen , JT ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1038/s41431-018-0291-3Test
https://pure.eur.nl/en/publications/d5f75cac-b17e-4e5b-bd91-625eff17cdd1Test
https://pure.eur.nl/ws/files/48164159/REPUB_113339-OA.pdfTest
http://hdl.handle.net/1765/113339Test -
6دورية أكاديمية
المؤلفون: Fokkema, I, Van der Velde, KJ, Slofstra, MK, Ruivenkamp, CAL, Vogel, MJ, Pfundt, R, Blok, MJC, Deprez, RHL, Waisfisz, Q, Abbott, KM, Sinke, RJ, Rahman, R, Nijman, IJ, de Koning, B, Thijs, G, Wieskamp, N, Moritz, RJG, Charbon, B, Saris, Jasper, Dunnen, JT, Laros, JFJ, Swertz, MA, van Gijn, ME
المصدر: Fokkema , I , Van der Velde , KJ , Slofstra , MK , Ruivenkamp , CAL , Vogel , MJ , Pfundt , R , Blok , MJC , Deprez , RHL , Waisfisz , Q , Abbott , KM , Sinke , RJ , Rahman , R , Nijman , IJ , de Koning , B , Thijs , G , Wieskamp , N , Moritz , RJG , Charbon , B , Saris , J , Dunnen , JT , Laros , JFJ , Swertz , MA & van Gijn , ME 2019 , ' Dutch ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1002/humu.23896Test
https://pure.eur.nl/en/publications/4dbc9892-501b-4415-9491-a0ec8a293314Test
https://pure.eur.nl/ws/files/48256612/Repub_122238_O-A.pdfTest
http://hdl.handle.net/1765/122238Test -
7دورية أكاديمية
المؤلفون: Boycott, K. M., Rath, A., Chong, J. X., Hartley, T., Alkuraya, F. S., Baynam, G., Brookes, Anthony J., Brudno, M., Carracedo, A., den Dunnen, JT, Dyke, S. O. M., Estivill, X., Goldblatt, J., Gonthier, C., Groft, SC, Gut, I., Hamosh, A., Hieter, P., Höhn, S., Hurles, M. E., Kaufmann, P., Knoppers, B. M., Krischer, J. P., Macek, M., Matthijs, G., Olry, A., Parker, S., Paschall, J., Philippakis, A .A., Rehm, H. L., Robinson, P. N., Sham, P-C., Stefanov, R., Taruscio, D., Unni, D., Vanstone, M. R., Zhang, F., Brunner, H., Bamshad, M. J., Lochmüller, H.
مصطلحات موضوعية: IRDiRC, Matchmaker Exchange, disease modeling, gene discovery, genome sequencing, ontologies, rare diseases, solving the unsolved, transcriptome sequencing, Databases, Factual, Exome, Genome, Human, Humans, International Cooperation
العلاقة: https://www.ncbi.nlm.nih.gov/pubmed/28475856Test; American Journal of Human Genetics, 2017, 100 (5), pp. 695-705; https://www.sciencedirect.com/science/article/pii/S0002929717301477?via%3DihubTest; http://hdl.handle.net/2381/42090Test; S0002-9297(17)30147-7
الإتاحة: https://doi.org/10.1016/j.ajhg.2017.04.003Test
https://www.sciencedirect.com/science/article/pii/S0002929717301477?via%3DihubTest
http://hdl.handle.net/2381/42090Test -
8دورية أكاديمية
المؤلفون: Shvetsova, E, Sofronova, A, Monajemi, R, Gagalova, K, Draisma, HHM, White, SJ, Santen, GWE, Lopes, SMCDS, Heijmans, BT, Van Meurs, J, Jansen, R, Franke, L, Kielbasa, SM, Den Dunnen, JT, 't Hoen, PAC, Boomsma, DI, Pool, R, Van Dongen, J, Hottenga, JJ, Van Greevenbroek, MMJ, Da Stehouwer, C, Van der Kallen, CJH, Schalkwijk, CG, Wijmenga, C, Zhernakova, S, Tigchelaar, EF, Slagboom, PE, Beekman, M, Deelen, J, Van Heemst, D, Veldink, JH, Van den Berg, LH, Van Duijn, CM, Hofman, BA, Uitterlinden, AG, Jhamai, PM, Verbiest, M, Suchiman, HED, Verkerk, M, Van der Breggen, R, Van Rooij, J, Lakenberg, N, Mei, H, Bot, J, Zhernakova, DV, 't Hof, PV, Deelen, P, Nooren, I, Moed, M, Vermaat, M, Luijk, R, Bonder, MJ, Van Iterson, M, Van Dijk, F, Van Galen, M, Arindrarto, W, Swertz, MA, Van Zwet, EW, Isaacs, A, Francioli, LC, Menelaou, A, Pulit, SL, Palamara, PF, Elbers, CC, Neerincx, PB, Ye, K, Guryev, V, Kloosterman, WP, Abdellaoui, A, Van Leeuwen, EM, Van Oven, M, Li, M, Laros, JF, Karssen, LC, Kanterakis, A, Amin, N, Lameijer, EW, Kattenberg, M, Dijkstra, M, Byelas, H, Van Setten, J, Van Schaik, BD, Nijman, IJ, Renkens, I, Marschall, T, Schonhuth, A, Hehir-Kwa, JY, Handsaker, RE, Polak, P, Sohail, M, Vuzman, D, Hormozdiari, F, Van Enckevort, D, Koval, V, Moed, MH, Van der Velde, KJ, Rivadeneira, F, Estrada, K, Medina-Gomez, C, McCarroll, SA, De Craen, AJ, Suchiman, HE, Oostra, B, Willemsen, G, Platteel, M, Pitts, SJ, Potluri, S, Sundar, P, Cox, DR, Sunyaev, SR, Stoneking, M, De Knijff, P, Kayser, M, Li, Q, Li, Y, Du, Y, Chen, R, Cao, H, Li, N, Cao, S, Wang, J, Bovenberg, JA, Pe'er, I, Van Ommen, GJ, De Bakker, PI
المصدر: 465 ; 455
مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Biochemistry & Molecular Biology, Genetics & Heredity, DUCHENNE MUSCULAR-DYSTROPHY, CHROMOSOME-INACTIVATION, DMD LOCUS, EXPRESSION, PATTERNS, TRANSLOCATION, ADRENOLEUKODYSTROPHY, CARRIERS, CONSEQUENCES, VARIABILITY, Calcium-Binding Proteins, Female, Humans, Intracellular Signaling Peptides and Proteins, Male, Membrane Glycoproteins, Netherlands, Polymorphism, Single Nucleotide, Population, Receptors, Cytoplasmic and Nuclear, Peptide, Septins, X Chromosome Inactivation, BIOS consortium
العلاقة: European Journal of Human Genetics; http://hdl.handle.net/10044/1/75694Test
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9دورية أكاديمية
المؤلفون: Oliveira, J, Gruber, A, Cardoso, M, Taipa, R, Fineza, I, Gonçalves, A, Laner, A, Winder, TL, Schroeder, J, Rath, J, Oliveira, ME, Vieira, E, Sousa, AP, Vieira, JP, Lourenço, T, Almendra, L, Negrão, L, Santos, M, Melo-Pires, M, Coelho, T, den Dunnen, JT, Santos, R, Sousa, M
مصطلحات موضوعية: Alleles, Biomarkers, Brain, Computational Biology, Databases, Nucleic Acid, Gene Frequency, Genetic Variation, Genotype, Humans, Immunohistochemistry, Laminin, Magnetic Resonance Imaging, Muscular Dystrophies, Genetic Association Studies, Mutation, Phenotype, HDE GEN, HDE NEU PED
العلاقة: Hum Mutat . 2018 Oct;39(10):1314-1337; http://hdl.handle.net/10400.17/3495Test
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10دورية أكاديمية
المؤلفون: Thompson, BA, Spurdle, AB, Plazzer, JP, Greenblatt, MS, Akagi, K, Al-Mulla, F, Bapat, B, Bernstein, I, Capella, G, den Dunnen, JT, du Sart, D, Fabre, A, Farrell, MP, Farrington, SM, Frayling, IM, Frebourg, T, Goldgar, DE, Heinen, CD, Holinski-Feder, E, Kohonen-Corish, M, Robinson, KL, Leung, SY, Martins, A, Moller, P, Morak, M, Nystrom, M, Peltomaki, P, Pineda, M, Qi, M, Ramesar, R, Rasmussen, LJ, Royer-Pokora, B, Scott, RJ, Sijmons, R, Tavtigian, SV, Tops, CM, Weber, T, Wijnen, J, Woods, MO, Macrae, F, Genuardi, M
المصدر: Nature genetics. 46(2):107
مصطلحات موضوعية: Medicin och hälsovetenskap
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