نتائج البحث - "Reese, M. G."

1

Academic Journal

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report

المؤلفون: Smedley, D., Smith, K. R., Martin, A., Thomas, E. A., McDonagh, E. M., Cipriani, V., Ellingford, J. M., Arno, G., Tucci, A., Vandrovcova, J., Chan, G., Williams, H. J., Ratnaike, T., Wei, W., Stirrups, K., Ibanez, K., Moutsianas, L., Wielscher, M., Need, A., Barnes, M. R., Vestito, L., Buchanan, J., Wordsworth, S., Ashford, S., Rehmström, K., Li, E., Fuller, G., Twiss, P., Spasic-Boskovic, O., Halsall, S., Floto, R. A., Poole, K., Wagner, A., Mehta, S. G., Gurnell, M., Burrows, N., James, R., Penkett, C., Dewhurst, E., Gräf, S., Mapeta, R., Kasanicki, M., Haworth, A., Savage, H., Babcock, M., Reese, M. G., Bale, M., Baple, E., Boustred, C., Brittain, H., de Burca, A., Bleda, M., Devereau, A., Halai, D., Haraldsdottir, E., Hyder, Z., Kasperaviciute, D., Patch, C., Polychronopoulos, D., Matchan, A., Sultana, R., Ryten, M., Tavares, A. L. T., Tregidgo, C., Turnbull, C., Welland, M., Wood, S., Snow, C., Williams, E., Leigh, S., Foulger, R. E., Daugherty, L. C., Niblock, O., Leong, I. U. S., Wright, C. F., Davies, J., Crichton, C., Welch, J., Woods, K., Abulhoul, L., Aurora, P., Bockenhauer, D., Broomfield, A., Cleary, M. A., Lam, T., Dattani, M., Footitt, E., Ganesan, V., Grunewald, S., Compeyrot-Lacassagne, S., Muntoni, F., Pilkington, C., Quinlivan, R., Thapar, N., Wallis, C., Wedderburn, L. R., Worth, A., Bueser, T., Compton, C., Deshpande, C., Fassihi, H., Haque, E., Izatt, L., Josifova, D., Mohammed, S., Robert, L., Rose, S., Ruddy, D., Sarkany, R., Say, G., Shaw, A. C., Wolejko, A., Habib, B., Burns, G., Hunter, S., Grocock, R. J., Humphray, S. J., Robinson, P. N., Haendel, M., Simpson, M. A., Banka, S., Clayton-Smith, J., Douzgou, S., Hall, G., Thomas, H. B., O'Keefe, R. T., Michaelides, M., Moore, A. T., Malka, S., Pontikos, N., Browning, A. C., Straub, V., Gorman, G. S., Horvath, R., Quinton, R., Schaefer, A. M., Yu-Wai-Man, P., Turnbull, D. M., McFarland, R., Taylor, R. W., O'Connor, E., Yip, J., Newland, K., Morris, H. R., Polke, J., Wood, N. W., Campbell, C., Camps, C., Gibson, K., Koelling, N., Lester, T., Németh, A. H., Palles, C., Patel, S., Roy, N. B. A., Sen, A., Taylor, J., Cacheiro, P., Jacobsen, J. O., Seaby, E. G., Davison, V., Chitty, L., Douglas, A., Naresh, K., McMullan, D., Ellard, S., Temple, I. K., Mumford, A. D., Wilson, G., Beales, P., Bitner-Glindzicz, M., Black, G., Bradley, J. R., Brennan, P., Burn, J., Chinnery, P. F., Elliott, P., Flinter, F., Houlden, H., Irving, M., Newman, W., Rahman, S., Sayer, J. A., Taylor, J. C., Webster, A. R., Wilkie, A. O. M., Ouwehand, W. H., Raymond, F. L., Chisholm, J., Hill, S., Bentley, D., Scott, R. H., Fowler, T., Rendon, A., Caulfield, M.

مصطلحات موضوعية: Adolescent, Adult, Child, Preschool, Family Characteristics, Female, Genetic Variation, Genome, Human, Humans, Male, Middle Aged, Pilot Projects, Polymerase Chain Reaction, Rare Diseases/diagnosis/*genetics, Sensitivity and Specificity, State Medicine, United Kingdom, Whole Genome Sequencing, Young Adult

Relation: N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi:10.1056/NEJMoa2035790.; https://rde.dspace-express.com/handle/11287/622253; The New England journal of medicine

الاتاحة: https://doi.org/10.1056/NEJMoa2035790
https://rde.dspace-express.com/handle/11287/622253

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2

Academic Journal

EGASP: the human ENCODE Genome Annotation Assessment Project

المؤلفون: Guigo, Roderic, Flicek, Paul, Abril, J. F., Reymond, Alexandre, Lagarde, Julien, Denoeud, France, Antonarakis, Stylianos, Ashburner, Michael, Bajic, V. B., Birney, Ewan, Castelo, Robert, Eyras, Eduardo, Ucla, Catherine, Gingeras, T. R., Harrow, Jennifer, Hubbard, Tim, Lewis, S. E., Reese, M. G.

المصدر: ISSN: 1465-6906 ; GenomeBiology.com, vol. 7, no. Suppl 1 (2006) p. S2.1-31.

مصطلحات موضوعية: info:eu-repo/classification/ddc/576.5, Alternative Splicing, Animals, Computational Biology/methods/ standards, Databases, Genetic, Genes, Genome, Human, Genomics/methods/ standards, Humans, Mice, RNA, Messenger/analysis, Sequence Analysis, DNA

Relation: info:eu-repo/semantics/altIdentifier/pmid/16925836; https://archive-ouverte.unige.ch/unige:9177; unige:9177

الاتاحة: https://archive-ouverte.unige.ch/unige:9177

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3

Academic Journal

An Exploration of the Sequence of a 2.9-Mb Region of the Genome of Drosophila melanogaster: The Adh Region

المؤلفون: Ashburner, M, Misra, S, Roote, J, Lewis, S E, Blazej, R, Davis, T, Doyle, C, Galle, R, George, R, Harris, N, Hartzell, G, Harvey, D, Hong, L, Houston, K, Hoskins, R, Johnson, G, Martin, C, Moshrefi, A, Palazzolo, M, Reese, M G, Spradling, A, Tsang, G, Wan, K, Whitelaw, K, Kimmel, B, Celniker, S, Rubin, G M

المصدر: Genetics ; volume 153, issue 1, page 179-219 ; ISSN 1943-2631

الاتاحة: http://dx.doi.org/10.1093/genetics/153.1.179
https://academic.oup.com/genetics/article-pdf/153/1/179/42023055/genetics0179.pdf

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4

Academic Journal

Interpolated markov chains for eukaryotic promoter recognition.

المؤلفون: Ohler, U, Harbeck, S, Niemann, H, N√∂th, E, Reese, M G

المصدر: Bioinformatics ; volume 15, issue 5, page 362-369 ; ISSN 1367-4811 1367-4803

الاتاحة: http://dx.doi.org/10.1093/bioinformatics/15.5.362
https://academic.oup.com/bioinformatics/article-pdf/15/5/362/48836530/bioinformatics_15_5_362.pdf

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5

Academic Journal

An exploration of the sequence of a 2.9-Mb region of the genome of Drosophila melanogaster: the Adh region

المؤلفون: Ashburner, M., Misra, S., Roote, J., Lewis, S. E., Blazej, R., Davis, Terence, Doyle, C., Galle, R., George, R., Harris, N., Hartzell, G., Harvey, D., Hong, L., Houston, K., Hoskins, R., Johnson, G., Martin, C., Moshrefi, A., Palazzolo, M., Reese, M. G., Spradling, A., Tsang, G., Wan, K., Whitelaw, K., Kimmel, B., Celniker, S., Rubin, G. M.

مصطلحات موضوعية: QH426 Genetics, R Medicine (General)

Relation: Ashburner, M., Misra, S., Roote, J., Lewis, S. E., Blazej, R., Davis, Terence https://orca.cardiff.ac.uk/view/cardiffauthors/A0078248.html orcid:0000-0003-2780-0262 orcid:0000-0003-2780-0262, Doyle, C., Galle, R., George, R., Harris, N., Hartzell, G., Harvey, D., Hong, L., Houston, K., Hoskins, R., Johnson, G., Martin, C., Moshrefi, A., Palazzolo, M., Reese, M. G., Spradling, A., Tsang, G., Wan, K., Whitelaw, K., Kimmel, B., Celniker, S. and Rubin, G. M. 1999. An exploration of the sequence of a 2.9-Mb region of the genome of Drosophila melanogaster: the Adh region. Genetics 153 (1) , pp. 179-219.