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11دورية أكاديمية
المؤلفون: DiStefano, MT, Goehringer, S, Babb, L, Alkuraya, FS, Amberger, J, Amin, M, Austin-Tse, C, Balzotti, M, Berg, JS, Birney, E, Bocchini, C, Bruford, EA, Coffey, AJ, Collins, H, Cunningham, F, Daugherty, LC, Einhorn, Y, Firth, HV, Fitzpatrick, DR, Foulger, RE, Goldstein, J, Hamosh, A, Hurles, MR, Leigh, SE, Leong, IUS, Maddirevula, S, Martin, CL, McDonagh, EM, Olry, A, Puzriakova, A, Radtke, K, Ramos, EM, Rath, A, Riggs, ER, Roberts, AM, Rodwell, C, Snow, C, Stark, Z, Tahiliani, J, Tweedie, S, Ware, JS, Weller, P, Williams, E, Wright, CF, Yates, TM, Rehm, HL
العلاقة: pii: S1098-3600(22)00746-8; DiStefano, M. T., Goehringer, S., Babb, L., Alkuraya, F. S., Amberger, J., Amin, M., Austin-Tse, C., Balzotti, M., Berg, J. S., Birney, E., Bocchini, C., Bruford, E. A., Coffey, A. J., Collins, H., Cunningham, F., Daugherty, L. C., Einhorn, Y., Firth, H. V., Fitzpatrick, D. R. ,. Rehm, H. L. (2022). The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med, 24 (8), pp.1732-1742. https://doi.org/10.1016/j.gim.2022.04.017Test.; http://hdl.handle.net/11343/316107Test
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12دورية أكاديمية
المؤلفون: 100,000 Genomes Project Pilot Investigators, Smedley, D, Smith, KR, Martin, A, Thomas, EA, McDonagh, EM, Cipriani, V, Ellingford, JM, Arno, G, Tucci, A, Vandrovcova, J, Chan, G, Williams, HJ, Ratnaike, T, Wei, W, Stirrups, K, Ibanez, K, Moutsianas, L, Wielscher, M, Need, A, Barnes, MR, Vestito, L, Buchanan, J, Wordsworth, S, Ashford, S, Rehmström, K, Li, E, Fuller, G, Twiss, P, Spasic-Boskovic, O, Halsall, S, Floto, RA, Poole, K, Wagner, A, Mehta, SG, Gurnell, M, Burrows, N, James, R, Penkett, C, Dewhurst, E, Gräf, S, Mapeta, R, Kasanicki, M, Haworth, A, Savage, H, Babcock, M, Reese, MG, 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, ALT, Tregidgo, C, Turnbull, C, Welland, M, Wood, S, Snow, C, Williams, E, Leigh, S, Foulger, RE, Daugherty, LC, Niblock, O, Leong, IUS, Wright, CF, Davies, J, Crichton, C, Welch, J, Woods, K, Abulhoul, L, Aurora, P, Bockenhauer, D, Broomfield, A, Cleary, MA, Lam, T, Dattani, M, Footitt, E, Ganesan, V, Grunewald, S, Compeyrot-Lacassagne, S, Muntoni, F, Pilkington, C, Quinlivan, R, Thapar, N, Wallis, C, Wedderburn, LR, 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, AC, Wolejko, A, Habib, B, Burns, G, Hunter, S, Grocock, RJ, Humphray, SJ, Robinson, PN, Haendel, M, Simpson, MA, Banka, S, Clayton-Smith, J, Douzgou, S, Hall, G, Thomas, HB, O'Keefe, RT, Michaelides, M, Moore, AT, Malka, S, Pontikos, N, Browning, AC, Straub, V, Gorman, GS, Horvath, R, Quinton, R, Schaefer, AM, Yu-Wai-Man, P, Turnbull, DM, McFarland, R, Taylor, RW, O'Connor, E, Yip, J, Newland, K, Morris, HR, Polke, J, Wood, NW, Campbell, C, Camps, C, Gibson, K, Koelling, N, Lester, T, Németh, AH, Palles, C, Patel, S, Roy, NBA, Sen, A, Taylor, J, Cacheiro, P, Jacobsen, JO, Seaby, EG, Davison, V, Chitty, L, Douglas, A, Naresh, K, McMullan, D, Ellard, S, Temple, IK, Mumford, AD, Wilson, G, Beales, P, Bitner-Glindzicz, M, Black, G, Bradley, JR, Brennan, P, Burn, J, Chinnery, PF, Elliott, P, Flinter, F, Houlden, H, Irving, M, Newman, W, Rahman, S, Sayer, JA, Taylor, JC, Webster, AR, Wilkie, AOM, Ouwehand, WH, Raymond, FL, Chisholm, J, Hill, S, Bentley, D, Scott, RH, Fowler, T, Rendon, A, Caulfield, M
المصدر: New England Journal of Medicine , 385 (20) pp. 1868-1880. (2021)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10138417/1/nejmoa2035790.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10138417Test/
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13دورية أكاديمية
المؤلفون: Wright, CF, Quaife, NM, Ramos-Hernández, L, Danecek, P, Ferla, MP, Samocha, KE, Kaplanis, J, Gardner, EJ, Eberhardt, RY, Chao, KR, Karczewski, KJ, Morales, J, Gallone, G, Balasubramanian, M, Banka, S, Gompertz, L, Kerr, B, Kirby, A, Lynch, SA, Morton, JEV, Pinz, H, Sansbury, FH, Stewart, H, Zuccarelli, BD, Genomics England Research Consortium, Cook, SA, Taylor, JC, Juusola, J, Retterer, K, Firth, HV, Hurles, ME, Lara-Pezzi, E, Barton, PJR, Whiffin, N
المساهمون: Leducq Foundation for Cardiovascular Research, Imperial College Healthcare NHS Trust- BRC Funding
المصدر: 1094 ; 1083
مصطلحات موضوعية: developmental disorders, clinical genetic testing, non-coding region variants, 5' UTR variants, Genomics England Research Consortium, Genetics & Heredity, 06 Biological Sciences, 11 Medical and Health Sciences
جغرافية الموضوع: United States
العلاقة: American Journal of Human Genetics; http://hdl.handle.net/10044/1/89704Test; 16CVD03; RDB02
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14دورية أكاديمية
المؤلفون: van Barneveld, K, Quinlan, M, Kriesler, P, Junor, A, Baum, F, Chowdhury, A, Junankar, PN, Clibborn, S, Flanagan, F, Wright, CF, Friel, S, Halevi, J, Rainnie, A
المصدر: urn:ISSN:1035-3046 ; urn:ISSN:1838-2673 ; Economic and Labour Relations Review, 31, 2, 133-157
مصطلحات موضوعية: 10 Reduced Inequalities, anzsrc-for: 1402 Applied Economics, anzsrc-for: 1503 Business and Management, anzsrc-for: 1605 Policy and Administration
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/1959.4/unsworks_67822Test; https://unsworks.unsw.edu.au/bitstreams/a300265a-51dc-4779-80a2-cd89fd1adcfb/downloadTest; https://doi.org/10.1177/1035304620927107Test
الإتاحة: https://doi.org/10.1177/1035304620927107Test
http://hdl.handle.net/1959.4/unsworks_67822Test
https://unsworks.unsw.edu.au/bitstreams/a300265a-51dc-4779-80a2-cd89fd1adcfb/downloadTest -
15دورية أكاديمية
المؤلفون: Wright, CF, Prigmore, E, Rajan, D, Handsaker, J, McRae, J, Kaplanis, J, Fitzgerald, TW, FitzPatrick, DR, Firth, HV, Hurles, ME
مصطلحات موضوعية: Child, Cohort Studies, Developmental Disabilities, Exome, Female, Genetic Testing, Genetic Variation, Haplotypes, High-Throughput Nucleotide Sequencing, Humans, Male, Maternal Inheritance, Mosaicism, Parents, Paternal Inheritance, Exome Sequencing
وصف الملف: text/xml; application/pdf; application/zip
الإتاحة: https://doi.org/10.17863/CAM.54703Test
https://www.repository.cam.ac.uk/handle/1810/307614Test -
16دورية أكاديمية
المؤلفون: Kaplanis, J, Samocha, KE, Wiel, L, Zhang, Z, Arvai, KJ, Eberhardt, RY, Gallone, G, Lelieveld, SH, Martin, HC, McRae, JF, Short, PJ, Torene, RI, de Boer, E, Danecek, P, Gardner, EJ, Huang, N, Lord, J, Martincorena, I, Pfundt, R, Reijnders, MRF, Yeung, A, Yntema, HG, Deciphering Developmental Disorders Study, ., Vissers, LELM, Juusola, J, Wright, CF, Brunner, HG, Firth, HV, FitzPatrick, DR, Barrett, JC, Hurles, ME, Gilissen, C, Retterer, K
المصدر: Nature , 586 (7831) pp. 757-762. (2020)
مصطلحات موضوعية: Cohort Studies, DNA Copy Number Variations, DNA Mutational Analysis, Data Analysis, Databases, Genetic, Datasets as Topic, Delivery of Health Care, Developmental Disabilities, Europe, Female, Genetic Diseases, Inborn, Germ-Line Mutation, Haploinsufficiency, Humans, Male, Mutation, Missense, Penetrance, Perinatal Death, Sample Size
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10133185/1/Ryten_797787v3.full.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10133185Test/
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17دورية أكاديمية
المؤلفون: Gunning, AC, Strucinska, K, Muñoz Oreja, M, Parrish, A, Caswell, R, Stals, KL, Durigon, R, Durlacher-Betzer, K, Cunningham, MH, Grochowski, CM, Baptista, J, Tysoe, C, Baple, E, Lahiri, N, Homfray, T, Scurr, I, Armstrong, C, Dean, J, Fernandez Pelayo, U, Jones, AWE, Taylor, RW, Misra, VK, Yoon, WH, Wright, CF, Lupski, JR, Spinazzola, A, Harel, T, Holt, IJ, Ellard, S
المصدر: The American Journal of Human Genetics , 106 (2) pp. 272-279. (2020)
مصطلحات موضوعية: ATAD3, ATAD3 gene cluster, Harel-Yoon, NAHR, cardiomyopathy, cholesterol, metabolic disorder, mitochondrial DNA, non-allelic homologous recombination
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10092792/1/1-s2.0-S0002929720300070-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10092792Test/
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18دورية أكاديمية
المؤلفون: Caswell, RC, Owens, MM, Gunning, AC, Ellard, S, Wright, CF
مصطلحات موضوعية: Multiple Endocrine Neoplasia type 1, protein structure, missense variant interpretation, genomics
العلاقة: Vol. 3 (12), pp. 2258 - 2275; 200990; http://hdl.handle.net/10871/39361Test; Journal of the Endocrine Society
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19دورية أكاديمية
المؤلفون: Aitken, S, Firth, HV, McRae, J, Halachev, M, Kini, U, Parker, MJ, Lees, MM, Lachlan, K, Sarkar, A, Joss, S, Splitt, M, McKee, S, Németh, AH, Scott, RH, Wright, CF, Marsh, JA, Hurles, ME, FitzPatrick, DR, Fitzgerald, TW, Gerety, SS, Jones, WD, van Kogelenberg, M, King, DA, Morley, KI, Parthiban, V, Al-Turki, S, Ambridge, K, Barrett, DM, Bayzetinova, T, Clayton, S, Coomber, EL, Gribble, S, Jones, P, Krishnappa, N, Mason, LE, Middleton, A, Miller, R, Prigmore, E, Rajan, D, Sifrim, A, Tivey, AR, Ahmed, M, Akawi, N, Andrews, R, Anjum, U, Archer, H, Armstrong, R, Balasubramanian, M, Banerjee, R, Barelle, D, Batstone, P, Baty, D, Bennett, C, Berg, J, Bernhard, B, Bevan, AP, Blair, E, Blyth, M, Bohanna, D, Bourdon, L, Bourn, D, Brady, A, Bragin, E, Brewer, C, Brueton, L, Brunstrom, K, Bumpstead, SJ, Bunyan, DJ, Burn, J, Burton, J, Canham, N, Castle, B, Chandler, K, Clasper, S, Clayton-Smith, J, Cole, T, Collins, A, Collinson, MN, Connell, F, Cooper, N, Cox, H, Cresswell, L, Cross, G, Crow, Y, D’Alessandro, PM, Dabir, T, Davidson, R, Davies, S, Dean, J, Deshpande, C, Devlin, G, Dixit, A, Dominiczak, A, Donnelly, C, Donnelly, D, Douglas, A, Duncan, A, Eason, J, Edkins, S, Ellard, S, Ellis, P, Elmslie, F, Evans, K, Everest, S, Fendick, T, Fisher, R, Flinter, F, Foulds, N, Fryer, A, Fu, B, Gardiner, C, Gaunt, L, Ghali, N, Gibbons, R, Pereira, SLG, Goodship, J, Goudie, D, Gray, E, Greene, P, Greenhalgh, L, Harrison, L, Hawkins, R, Hellens, S, Henderson, A, Hobson, E, Holden, S, Holder, S, Hollingsworth, G, Homfray, T, Humphreys, M, Hurst, J, Ingram, S, Irving, M, Jarvis, J, Jenkins, L, Johnson, D, Jones, D, Jones, E, Josifova, D, Kaemba, B, Kazembe, S, Kerr, B, Kinning, E, Kirby, G, Kirk, C, Kivuva, E, Kraus, A, Kumar, D, Lam, W, Lampe, A, Langman, C, Lees, M, Lim, D, Lowther, G, Lynch, SA, Magee, A, Maher, E, Mansour, S, Marks, K, Martin, K, Maye, U, McCann, E, McConnell, V, McEntagart, M, McGowan, R, McKay, K, McMullan, DJ, McNerlan, S, Mehta, S, Metcalfe, K, Miles, E, Mohammed, S, Montgomery, T, Moore, D, Morgan, S, Morris, A, Morton, J, Mugalaasi, H, Murday, V, Nevitt, L, Newbury-Ecob, R, Norman, A, O’Shea, R, Ogilvie, C, Park, S, Patel, C, Paterson, J, Payne, S, Phipps, J, Pilz, DT, Porteous, D, Pratt, N, Prescott, K, Price, S, Pridham, A, Proctor, A, Purnell, H, Ragge, N, Rankin, J, Raymond, L, Rice, D, Robert, L, Roberts, E, Roberts, G, Roberts, J, Roberts, P, Ross, A, Rosser, E, Saggar, A, Samant, S, Sandford, R, Schweiger, S, Scott, C, Scott, R, Selby, A, Seller, A, Sequeira, C, Shannon, N, Sharif, S, Shaw-Smith, C, Shearing, E, Shears, D, Simonic, I, Simpkin, D, Singzon, R, Skitt, Z, Smith, A, Smith, B, Smith, K, Smithson, S, Sneddon, L, Squires, M, Stewart, F, Stewart, H, Suri, M, Sutton, V, Swaminathan, GJ, Sweeney, E, Tatton-Brown, K, Taylor, C, Taylor, R, Tein, M, Temple, IK, Thomson, J, Tolmie, J, Torokwa, A, Treacy, B, Turner, C, Turnpenny, P, Tysoe, C, Vandersteen, A, Vasudevan, P, Vogt, J, Wakeling, E, Walker, D, Waters, J, Weber, A, Wellesley, D, Whiteford, M, Widaa, S, Wilcox, S, Williams, D, Williams, N, Woods, G, Wragg, C, Wright, M, Yang, F, Yau, M, Carter, NP, Parker, M, Barrett, JC
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/164184/1/Finding%20Diagnostically%20Useful%20Patterns%20in%20Quantitative%20Phenotypic%20Data.pdfTest; Aitken, S, Firth, HV, McRae, J et al. (280 more authors) (2019) Finding diagnostically useful patterns in quantitative phenotypic data. The American Journal of Human Genetics, 105 (5). pp. 933-946. ISSN 0002-9297
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20دورية أكاديمية
المؤلفون: Suri, M, Evers, JMG, Laskowski, RA, O'Brien, S, Baker, K, Clayton-Smith, J, Dabir, T, Josifova, D, Joss, S, Kerr, B, Kraus, A, McEntagart, M, Morton, J, Smith, A, Splitt, M, Thornton, JM, Wright, CF
مصطلحات موضوعية: epilepsy, Exome Aggregation Consortium, genomics, Munc18, protein structure, syntaxin-binding protein 1
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.17863/CAM.21457Test
https://www.repository.cam.ac.uk/handle/1810/274335Test
النص الكامل