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1دورية 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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2دورية أكاديمية
المؤلفون: Kohonen-Corish, MR, Al-Aama, JY, Auerbach, AD, Axton, M, Barash, CI, Bernstein, I, Béroud, C, Burn, J, Cunningham, F, Cutting, GR, den Dunnen, JT, Greenblatt, MS, Kaput, J, Katz, M, Lindblom, A, Macrae, F, Maglott, D, Möslein, G, Povey, S, Ramesar, R, Richards, S, Seminara, D, Sobrido, MJ, Tavtigian, S, Taylor, G, Vihinen, M, Winship, I, Cotton, RG, Human Variome Project Meeting
المصدر: Hum Mutat , 31 (12) 1374 - 1381. (2010)
مصطلحات موضوعية: Data Collection, Databases, Genetic, Genetic Variation, Genome, Human, Humans, Individualized Medicine, Motivation, Mutation, Paris, Software, Terminology as Topic, United Nations, scipo, envir
العلاقة: http://discovery.ucl.ac.uk/1413873Test/
الإتاحة: http://discovery.ucl.ac.uk/1413873Test/
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3دورية أكاديمية
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, Blocker, H, Brenner, SE, Burn, J, Bustamante, M, Calone, R, Cambon-Thomsen, A, Cargill, M, Carrera, P, Cavedon, L, Cho, YS, Chung, YJ, 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, YS, Lee, JY, Gil-da-Silva-Lopes, VL, Macrae, FA, Maglott, D, Marafie, MJ, Marsh, SGE, Matsubara, Y, Messiaen, LM, Moslein, G, Netea, MG, Norton, ML, Oefner, PJ, Oetting, WS, O'Leary, JC, de Ramirez, AMO, 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, MJ, Tanaka, T, Tavtigian, SV, Taylor, GR, Teague, J, Topel, T, Ullman-Cullere, M, Utsunomiya, J, van Kranen, HJ, Vihinen, M, Webb, E, Weber, TK, Yeager, M, Yeom, YI, Yim, SH, Yoo, HS, Human Variome Project Planning
مصطلحات موضوعية: variome, genome, mutation, database, genetic disease, INTERNATIONAL HAPMAP PROJECT, LOCUS-SPECIFIC DATABASES, HUMAN GENOME, DEVELOPING-COUNTRIES, GLOBAL HEALTH, GENETIC-VARIATION, MISSENSE VARIANTS, MUTATION DATABASE, GRAND CHALLENGES, HUMAN-DISEASE
وصف الملف: 496 - 510
العلاقة: HUM MUTAT; http://qmro.qmul.ac.uk/jspui/handle/123456789/1012Test; 123456789/1012; http://qmro.qmul.ac.uk/xmlui/handle/123456789/1016Test
الإتاحة: https://doi.org/10.1002/humu.20972Test
http://qmro.qmul.ac.uk/xmlui/handle/123456789/1016Test -
4دورية أكاديمية
المؤلفون: Beaudet, AL, Motulski, AG, Beckmann, JS, Beutler, E, Cooper, DN, Cotton, RGH, Tay, AHN, Keen, J, Den Dunnen, JT, Scriver, CR, King, MC, Kazazian Jr, HH, Tsui, LC, McKusick, V, Valle, D, Desnick, RJ, Vihinen, M, Shows Jr, TB, Eng, C, Fasman, KH, Supertifurga, A, McAlpine, PJ, Lehvaslaiho, H, Antonarakis, SE, Ashburner, M, Goldman, D, Schorderet, DF, Povey, S, Hayashi, K, Auerbach, AD, Hutchinson, F
مصطلحات موضوعية: Terminology as Topic, Genes, Humans, Mutation
العلاقة: Human Mutation; http://www.scopus.com/mlt/select.url?eid=2-s2.0-0005059781&selection=ref&src=s&origin=recordpageTest; Human Mutation, 1998, v. 11 n. 1, p. 1-3; WOS:000071288300001; http://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1059-7794&volume=11&issue=1&spage=1&epage=3&atitle=Recommendations+for+a+nomenclature+system+for+human+gene+mutationsTest; 9450896; eid_2-s2.0-0031612929; http://hdl.handle.net/10722/143608Test; 11
الإتاحة: https://doi.org/10.1002Test/(SICI)1098-1004(1998)11:1<1::AID-HUMU1>3.0.CO;2-O
http://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1059-7794&volume=11&issue=1&spage=1&epage=3&atitle=Recommendations+for+a+nomenclature+system+for+human+gene+mutationsTest
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المؤلفون: Cotton, RGH, Auerbach, AD, Brown, AF, Carrera, P, Christodoulou, J, Claustre, M, Compton, J, Cox, DW, De Baere, Elfride, den Dunnen, JT, Greenblatt, M, Fujiwara, M, Hilbert, P, Jani, A, Lehvaslaiho, H, Nebert, DW, Verma, I, Vihinen, M
المصدر: HUMAN MUTATION ; ISSN: 1059-7794
مصطلحات موضوعية: Biology and Life Sciences, mutation, variome, recommendations, genotype, phenotype
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/2054844Test; http://hdl.handle.net/1854/LU-2054844Test; http://dx.doi.org/10.1002/humu.20631Test; https://biblio.ugent.be/publication/2054844/file/2054888Test
الإتاحة: https://doi.org/10.1002/humu.20631Test
https://biblio.ugent.be/publication/2054844Test
http://hdl.handle.net/1854/LU-2054844Test
https://biblio.ugent.be/publication/2054844/file/2054888Test -
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المؤلفون: J.T. den Dunnen, Annibale Alessandro Puca, Margherita Mariani, Eugenio Montini, Elena I. Rugarli, G. Giacomo Consalez, Grazia Andolfi, Brunella Franco, Andrea Ballabio, E. van de Vosse
المساهمون: Montini, E, Rugarli, Ei, Van de Vosse, E, Andolfi, G, Mariani, M, Puca, Aa, Consalez, GIAN GIACOMO, den Dunnen, Jt, Ballabio, A, Franco, B.
مصطلحات موضوعية: Retinal degeneration, DNA, Complementary, Genetic Linkage, Phosphatase, Molecular Sequence Data, Mice, Inbred Strains, Biology, Exon, Mice, Ganglia, Spinal, Gene expression, Genetics, medicine, Phosphoprotein Phosphatases, Gene family, Animals, Drosophila Proteins, Humans, Tissue Distribution, Amino Acid Sequence, Neurons, Afferent, Molecular Biology, Genetics (clinical), In Situ Hybridization, Polymorphism, Single-Stranded Conformational, Sequence Homology, Amino Acid, Calcium-Binding Proteins, Retinal Degeneration, Cranial Nerves, Neural crest, Chromosome Mapping, Gene Expression Regulation, Developmental, General Medicine, medicine.disease, Embryo, Mammalian, Molecular biology, Sensory neuron, Mice, Inbred C57BL, Alternative Splicing, medicine.anatomical_structure, Neural Crest, Mutation, RNA, Drosophila Protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b309576c68d5e710bdba721fcee7775Test