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

الإتاحة: https://doi.org/10.1002/humu.23599Test
http://hdl.handle.net/10400.17/3495Test

المؤلفون: Povey, S, Al Aqeel, AI, Cambon-Thomsen, A, Dalgleish, R, den Dunnen, JT, Firth, HV, Greenblatt, MS, Barash, CI, Parker, M, Patrinos, GP, Savige, J, Sobrido, M-J, Winship, I, Cotton, RGH

العلاقة: Povey, S., Al Aqeel, A. I., Cambon-Thomsen, A., Dalgleish, R., den Dunnen, J. T., Firth, H. V., Greenblatt, M. S., Barash, C. I., Parker, M., Patrinos, G. P., Savige, J., Sobrido, M. -J., Winship, I. & Cotton, R. G. H. (2010). Practical Guidelines Addressing Ethical Issues Pertaining to the Curation of Human Locus-Specific Variation Databases (LSDBs). HUMAN MUTATION, 31 (11), pp.1179-1184. https://doi.org/10.1002/humu.21339Test.; http://hdl.handle.net/11343/263899Test

الإتاحة: https://doi.org/10.1002/humu.21339Test
http://hdl.handle.net/11343/263899Test

المؤلفون: den Dunnen, JT, Dalgleish, R, Maglott, DR, Hart, RK, Greenblatt, MS, McGowan-Jordan, J, Roux, A-F, Smith, T, Antonarakis, SE, Taschner, PEM

العلاقة: den Dunnen, J. T., Dalgleish, R., Maglott, D. R., Hart, R. K., Greenblatt, M. S., McGowan-Jordan, J., Roux, A. -F., Smith, T., Antonarakis, S. E. & Taschner, P. E. M. (2016). HGVS Recommendations for the Description of Sequence Variants: 2016 Update. HUMAN MUTATION, 37 (6), pp.564-569. https://doi.org/10.1002/humu.22981Test.; http://hdl.handle.net/11343/291098Test

الإتاحة: https://doi.org/10.1002/humu.22981Test
http://hdl.handle.net/11343/291098Test

المؤلفون: Kalman, LV, Agúndez, JAG, Appell, M Lindqvist, Black, JL, Bell, GC, Boukouvala, S, Bruckner, C, Bruford, E, Caudle, K, Coulthard, SA, Daly, AK, Tredici, AL Del, 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, Müller, 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 & Therapeutics ; volume 99, issue 2, page 172-185 ; ISSN 0009-9236 1532-6535

الإتاحة: https://doi.org/10.1002/cpt.280Test

المؤلفون: Povey, S, Al Aqeel, AI, Cambon-Thomsen, A, Dalgleish, R, den Dunnen, JT, Firth, HV, Greenblatt, MS, Barash, CI, Parker, M, Patrinos, GP, Savige, J, Sobrido, M-J, Winship, I, Cotton, RGH

مصطلحات موضوعية: info, scipo

العلاقة: http://hdl.handle.net/11343/263899Test

الإتاحة: http://hdl.handle.net/11343/263899Test

المؤلفون: Kaput, J, Cotton, RGH, Hardman, L, Watson, M, Al Aqeel, AI, Al-Aama, JY, Al-Mulla, F, Alonso, S, Aretz, S, Auerbach, AD, Bapat, B, Bernstein, IT, Bhak, J, Bleoo, SL, Bloecker, H, Brenner, SE, Burn, J, Bustamante, M, Calone, R, Cambon-Thomsen, A, Cargill, M, Carrera, P, Cavedon, L, Cho, YS, Chung, Y-J, Claustres, M, Cutting, G, Dalgleish, R, den Dunnen, JT, Diaz, C, Dobrowolski, S, dos Santos, MRN, Ekong, R, Flanagan, SB, Flicek, P, Furukawa, Y, Genuardi, M, Ghang, H, Golubenko, MV, Greenblatt, MS, Hamosh, A, Hancock, JM, Hardison, R, Harrison, TM, Hoffmann, R, Horaitis, R, Howard, HJ, Barash, CI, Izagirre, N, Jung, J, Kojima, T, Laradi, S, Lee, Y-S, Lee, J-Y, Gil-da-Silva-Lopes, VL, Macrae, FA, Maglott, D, Marafie, MJ, Marsh, SGE, Matsubara, Y, Messiaen, LM, Moeslein, G, Netea, MG, Norton, ML, Oefner, PJ, Oetting, WS, O'Leary, JC, Oller de Ramirez, AM, Paalman, MH, Parboosingh, J, Patrinos, GP, Perozzi, G, Phillips, IR, Povey, S, Prasad, S, Qi, M, Quin, DJ, Ramesar, RS, Richards, CS, Savige, J, Scheible, DG, Scott, RJ, Seminara, D, Shephard, EA, Sijmons, RH, Smith, TD, Sobrido, M-J, Tanaka, T, Tavtigian, SV, Taylor, GR, Teague, J, Toepel, T, Ullman-Cullere, M, Utsunomiya, J, van Kranen, HJ, Vihinen, M, Webb, E, Weber, TK, Yeager, M, Yeom, YI, Yim, S-H, Yoo, H-S

العلاقة: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000265006400002&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=d4d813f4571fa7d6246bdc0dfeca3a1cTest; Kaput, J., Cotton, R. G. H., Hardman, L., Watson, M., Al Aqeel, A. I., Al-Aama, J. Y., Al-Mulla, F., Alonso, S., Aretz, S., Auerbach, A. D., Bapat, B., Bernstein, I. T., Bhak, J., Bleoo, S. L., Bloecker, H., Brenner, S. E., Burn, J., Bustamante, M., Calone, R. ,. Yoo, H. -S. (2009). Planning the Human Variome Project: The Spain Report. HUMAN MUTATION, 30 (4), pp.496-510. https://doi.org/10.1002/humu.20972Test.; http://hdl.handle.net/11343/43973Test

الإتاحة: https://doi.org/10.1002/humu.20972Test
http://hdl.handle.net/11343/43973Test
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000265006400002&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=d4d813f4571fa7d6246bdc0dfeca3a1cTest

المؤلفون: Helderman‐van den Enden, ATJM, De Jong, R, Den Dunnen, JT, Houwing‐Duistermaat, JJ, Kneppers, ALJ, Ginjaar, HB, Breuning, MH, Bakker, E

المصدر: Clinical Genetics ; volume 75, issue 5, page 465-472 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/j.1399-0004.2009.01173.xTest