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1دورية أكاديمية
المؤلفون: Pagnamenta, AT, Camps, C, Giacopuzzi, E, Taylor, JM, Hashim, M, Calpena, E, Kaisaki, PJ, Hashimoto, A, Yu, J, Sanders, E, Schwessinger, R, Hughes, JR, Lunter, G, Dreau, H, Ferla, M, Lange, L, Kesim, Y, Ragoussis, V, Vavoulis, DV, Allroggen, H, Ansorge, O, Babbs, C, Banka, S, Baños-Piñero, B, Beeson, D, Ben-Ami, T, Bennett, DL, Bento, C, Blair, E, Brasch-Andersen, C, Bull, KR, Cario, H, Cilliers, D, Conti, V, Davies, EG, Dhalla, F, Dacal, BD, Dong, Y, Dunford, JE, Guerrini, R, Harris, AL, Hartley, J, Hollander, G, Javaid, K, Kane, M, Kelly, D, Knight, SJL, Kreins, AY, Kvikstad, EM, Langman, CB, Lester, T, Lines, KE, Lord, SR, Lu, X, Mansour, S, Manzur, A, Maroofian, R, Marsden, B, Mason, J, McGowan, SJ, Mei, D, Mlcochova, H, Murakami, Y, Németh, AH, Okoli, S, Ormondroyd, E, Ousager, LB, Palace, J, Patel, SY, Pentony, MM, Pugh, C, Rad, A, Ramesh, A, Riva, SG, Roberts, I, Roy, N, Salminen, O, Schilling, KD, Scott, C, Sen, A, Smith, C, Stevenson, M, Thakker, RV, Twigg, SRF, Uhlig, HH, van Wijk, R, Vona, B, Wall, S, Wang, J, Watkins, H, Zak, J, Schuh, AH, Kini, U, Wilkie, AOM, Popitsch, N, Taylor, JC
المصدر: Genome Medicine , 15 (1) , Article 94. (2023)
مصطلحات موضوعية: Bioinformatics pipeline development, Clinical impact, Diagnostic yield, Genome sequencing, Non-coding, Pipeline optimisation, Rare diseases, Splice site variant, Structural variant
وصف الملف: application/pdf
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10181812/1/s13073-023-01240-0.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10181812Test/
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2دورية أكاديمية
المؤلفون: Scott, C, Bartolovic, K, Clark, S-A, Waithe, D, Hill, Q, Okoli, S, Renella, R, Ryan, K, Cahill, M, Higgs, D, Roy, N, Buckle, V, Roberts, I, Babbs, C
العلاقة: https://ora.ox.ac.uk/objects/uuid:a05c51db-a397-4caa-bdfc-ade03310bd36Test; https://doi.org/10.1111/bjh.18167Test
الإتاحة: https://doi.org/10.1111/bjh.18167Test
https://ora.ox.ac.uk/objects/uuid:a05c51db-a397-4caa-bdfc-ade03310bd36Test -
3دورية أكاديمية
المؤلفون: Scott, C., Downes, D.J., Brown, J.M., Beagrie, R., Olijnik, A.A., Gosden, M., Schwessinger, R., Fisher, C.A., Rose, A., Ferguson, DJP, Johnson, E., Hill, Q.A., Okoli, S., Renella, R., Ryan, K., Brand, M., Hughes, J., Roy, NBA, Higgs, D.R., Babbs, C., Buckle, V.J.
المصدر: Haematologica, vol. 106, no. 11, pp. 2960-2970
مصطلحات موضوعية: Anemia, Dyserythropoietic, Congenital/diagnosis, Congenital/genetics, Erythroid Cells, Erythropoiesis, Glycoproteins/genetics, Humans, Nuclear Proteins/genetics
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33121234; info:eu-repo/semantics/altIdentifier/eissn/1592-8721; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_C1E9ACEBC1DA9; https://serval.unil.ch/notice/serval:BIB_C1E9ACEBC1DATest; urn:issn:0390-6078; https://serval.unil.ch/resource/serval:BIB_C1E9ACEBC1DA.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_C1E9ACEBC1DA9Test
الإتاحة: https://doi.org/10.3324/haematol.2020.260158Test
https://serval.unil.ch/notice/serval:BIB_C1E9ACEBC1DATest
https://serval.unil.ch/resource/serval:BIB_C1E9ACEBC1DA.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_C1E9ACEBC1DA9Test -
4مؤتمر
المؤلفون: Brierley, C, Babbs, C, McGowan, S, Downes, D, Sanchis-Juan, A, Aydinok, Y, Thakur, I, Connor, P, Tedgard, U, Bechensteen, A, Harvet, G, De La Fuente, J, Mettananda, S, Hendricks, M, Carey, P, Lausen, B, Ancliff, P, Qureshi, A, Louka, E, Okoli, S, Psaila, B, O'Sullivan, J, Mead, A, Mapeta, R, Megy, K, Ouwehand, W, Turro, E, Roberts, I, Layton, M, Roy, N
العلاقة: https://ora.ox.ac.uk/objects/uuid:298ff054-b0aa-4b90-bde3-3ec5943b9468Test; https://doi.org/10.1111/bjh.15854Test
الإتاحة: https://doi.org/10.1111/bjh.15854Test
https://ora.ox.ac.uk/objects/uuid:298ff054-b0aa-4b90-bde3-3ec5943b9468Test -
5دورية أكاديمية
المؤلفون: Scott, C, Downes, DJ, Brown, J, Beagrie, R, Olijnik, AA, Gosden, M, Schwessinger, R, Fisher, C, Rose, A, Ferguson, D, Johnson, E, Hill, Q, Okoli, S, Renella, R, Ryan, K, Brand, M, Hughes, J, Roy, N, Higgs, D, Babbs, C, Buckle, V
العلاقة: https://ora.ox.ac.uk/objects/uuid:fa9e3efe-ad59-4e9f-bed1-ffbd95571064Test; https://doi.org/10.3324/haematol.2020.260158Test
الإتاحة: https://doi.org/10.3324/haematol.2020.260158Test
https://ora.ox.ac.uk/objects/uuid:fa9e3efe-ad59-4e9f-bed1-ffbd95571064Test -
6دورية أكاديمية
المؤلفون: Bansal, S., Okoli, S., Cole, C., Jeannerat, D., Rao, R., Elkassas, S., Edevane, S.
المصدر: Chest ; volume 157, issue 6, page A236 ; ISSN 0012-3692
مصطلحات موضوعية: Cardiology and Cardiovascular Medicine, Critical Care and Intensive Care Medicine, Pulmonary and Respiratory Medicine
الإتاحة: https://doi.org/10.1016/j.chest.2020.05.292Test
https://api.elsevier.com/content/article/PII:S0012369220311685?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0012369220311685?httpAccept=text/plainTest -
7دورية أكاديمية
المؤلفون: Rhodes, CJ, Batai, K, Bleda, M, Haimel, M, Southgate, L, Germain, M, Pauciulo, MW, Hadinnapola, C, Aman, J, Girerd, B, Arora, A, Knight, J, Hanscombe, KB, Karnes, JH, Kaakinen, M, Gall, H, Ulrich, A, Harbaum, L, Cebola, I, Ferrer, J, Lutz, K, Swietlik, EM, Ahmad, F, Amouyel, P, Archer, SL, Argula, R, Austin, ED, Badesch, D, Bakshi, S, Barnett, C, Benza, R, Bhatt, N, Bogaard, HJ, Burger, CD, Chakinala, M, Church, C, Coghlan, JG, Condliffe, R, Corris, PA, Danesino, C, Debette, S, Elliott, CG, Elwing, J, Eyries, M, Fortin, T, Franke, A, Frantz, RP, Frost, A, Garcia, JGN, Ghio, S, Ghofrani, H-A, Gibbs, JSR, Harley, J, He, H, Hill, NS, Hirsch, R, Houweling, AC, Howard, LS, Ivy, D, Kiely, DG, Klinger, J, Kovacs, G, Lahm, T, Laudes, M, Machado, RD, Ross, RVM, Marsolo, K, Martin, LJ, Moledina, S, Montani, D, Nathan, SD, Newnham, M, Olschewski, A, Olschewski, H, Oudiz, RJ, Ouwehand, WH, Peacock, AJ, Pepke-Zaba, J, Rehman, Z, Robbins, I, Roden, DM, Rosenzweig, EB, Saydain, G, Scelsi, L, Schilz, R, Seeger, W, Shaffer, CM, Simms, RW, Simon, M, Sitbon, O, Suntharalingam, J, Tang, H, Tchourbanov, AY, Thenappan, T, Torres, F, Toshner, MR, Treacy, CM, Noordegraaf, AV, Waisfisz, Q, Walsworth, AK, Walter, RE, Wharton, J, White, RJ, Wilt, J, Wort, SJ, Yung, D, Lawrie, A, Humbert, M, Soubrier, F, Tregouet, D-A, Prokopenko, I, Kittles, R, Graf, S, Nichols, WC, Trembath, RC, Desai, AA, Morrell, NW, Wilkins, MR, Adlard, J, Ahmed, M, Aitman, T, Alachkar, H, Allsup, D, Almeida-King, J, Ancliff, P, Antrobus, R, Armstrong, R, Arno, G, Ashford, S, Astle, W, Attwood, A, Babbs, C, Bakchoul, T, Bariana, T, Barwell, J, Bennett, D, Bentley, D, Bierzynska, A, Biss, T, Bogaard, H, Bourne, C, Boyce, S, Bradley, J, Breen, G, Brennan, P, Brewer, C, Brown, M, Browning, M, Buchan, R, Buckland, M, Bueser, T, Burns, S, Burren, O, Calleja, P, Carr-White, G, Carss, K, Casey, R, Caulfield, M, Chambers, J, Cheng, F, Chinnery, PF, Christian, M, Brod, NC, Coghlan, G, Colby, E, Cole, T, Collins, J, Collins, P, Colombo, C, Cook, S, Cook, T, Cooper, N, Corris, P, Crisp-Hihn, A, Curry, N, Daniels, M, Daugherty, L, Davis, J, Deevi, SVV, Dent, T, Dewhurst, E, Dixon, P, Downes, K, Drazyk, A, Drewe, E, Dutt, T, Edgar, D, Edwards, K, Egner, W, Erber, W, Erwood, M, Estiu, MC, Evans, G, Evans, DG, Everington, T, Favier, R, Fletcher, D, Fox, J, Frary, A, French, C, Freson, K, Frontini, M, Gale, D, Geoghegan, C, Gerighty, T, Gibbs, S, Gilmour, K, Goddard, S, Gomez, K, Gordins, P, Gosal, D, Grassi, L, Greene, D, Greenhalgh, L, Greinacher, A, Gresele, P, Griffiths, P, Grigoriadou, S, Grocock, R, Grozeva, D, Hackett, S, Hague, W, Hall, M, Hanson, H, Harkness, K, Harper, A, Harris, C, Hart, D, Hassan, A, Hayman, G, Henderson, A, Hoffmann, J, Horvath, R, Houweling, A, Howard, L, Hu, F, Hudson, G, Hughes, J, Huissoon, A, Humphray, S, Hunter, S, Hurles, M, Izatt, L, James, R, Johnson, S, Jolles, S, Jolley, J, Jurkute, N, Kasanicki, M, Kazkaz, H, Kazmi, R, Kelleher, P, Kiely, D, Kingston, N, Klima, R, Kostadima, M, Koziell, A, Kreuzhuber, R, Kuijpers, T, Kumar, A, Kumararatne, D, Kurian, M, Laffan, M, Lalloo, F, Lambert, M, Allen, HL, Layton, M, Lentaigne, C, Levine, A, Linger, R, Longhurst, H, Louka, E, Ross, RM, Madan, B, Maher, E, Maimaris, J, Mangles, S, Mapeta, R, Marchbank, K, Marks, S, Markus, HS, Marschall, H-U, Marshall, A, Martin, J, Mathias, M, Matthews, E, Maxwell, H, McAlinden, P, McCarthy, M, Meacham, S, Mead, A, Megy, K, Mehta, S, Michaelides, M, Millar, C, Moore, T, Morrell, N, Mozere, M, Muir, K, Mumford, A, O'Sullivan, J, Obaji, S, Okoli, S, Ong, KR, Ormondroyd, E, Ouwehand, W, Papadia, S, Park, S-M, Parry, D, Paterson, J, Peacock, A, Peden, J, Peerlinck, K, Penkett, C, Petersen, R, Pyle, A, Rankin, S, Rao, A, Raymond, FL, Rayner-Matthews, P, Rees, C, Rendon, A, Renton, T, Rice, A, Richardson, S, Richter, A, Roberts, I, Roughley, C, Roy, N, Sadeghi-Alavijeh, O, Saleem, M, Samani, N, Sanchis-Juan, A, Sargur, R, Satchell, S, Savic, S, Schulman, S, Scully, M, Searle, C, Sewell, C, Seyres, D, Shapiro, S, Sharmardina, O, Shtoyerman, R, Sibson, K, Side, L, Simeoni, I, Simpson, M, Sivapalaratnam, S, Skytte, A-B, Smith, K, Smith, KGC, Snape, K, Staines, S, Staples, E, Stark, H, Stephens, J, Stirrups, K, Stock, S, Swietlik, E, Tait, RC, Talks, K, Tan, R, Thaventhiran, J, Themistocleous, A, Thomas, M, Thomson, K, Thrasher, A, Thys, C, Tischkowitz, M, Titterton, C, Toh, C-H, Toshner, M, Traylor, M, Treacy, C, Trembath, R, Tuna, S, Turek, W, Turro, E, Vale, T, Van Geet, C, Van Zuydam, N, Vazquez-Lopez, M, Von Ziegenweidt, J, Walker, S, Ware, J, Watkins, H, Watt, C, Webster, A, Wei, W, Welch, S, Wessels, J, Westbury, S, Westwood, J-P, Whitehorn, D, Whitworth, J, Williamson, C, Wong, E, Wood, N, Wood, Y, Woods, G, Woodward, E, Wort, S, Worth, A, Yates, K, Yong, P, Young, T, Yu, P, Yu-Wai-Man, P, Theuer, A, Malur, A, Williams, A, Dotson, A, Warden, A, Harrington, B, Vang, B, Ziemak, C, Casanova, N, Caskey, E, MacDonald, C, Rowley, C, Larimore, D, Brady, D, Tomer, D, Davis, A, Broach, D, Devereux, J, Lovato, E, Stratton, E, Turk, E, Jackson, E, Paciotti, G, Peichel, G, Birru, H, del Junco, H, Ingledue, R, Bruno, J, Drake, J, Marks, J, Pisarcik, J, Spears, J, Santiago, J, DeMartino, J, Beckmann, J, Palmer, J, Visnaw, K, Kennedy, K, Lewis, K, Miller-Reed, K, Hannon, K, McClain, K, Dillon, L, Olanipekun, L, Mendibles, L, Hawke, L, Brody, L, Durst, L, Andrews, M, Allahua, M, Stratoberdha, M, Lemma, M, Cope, M, Franzo, M, Feliz, N, Hawkes, N, Norwood, T, Wilson, O, Palmisciano, A, Gruhlke, P, Correa, P, Blake, R, Karnekar, R, Do, R, Rohwer, K, Ahmed, S, Schiltz, K, Scovel, P, Cordell, S, Heuerman, S, Ahmad, S, Szuberla, S, Roads, T, Iem, T, Mcgaha, T, Urban, T, Aston, V, Ayesh, W, Light, A, Arkon, A, Tavlarides, A, Anderson, A, Bindu, J, Boekwig, D, Singleton, D, Abrea, I, Lee, J, Ormiston, M, Whitman, R, Holy, R, Almeida-Peters, S, Igenoza, T, Farber, H, Reponen, A, Barve, M, Gygi, A, Winslow, C
المصدر: The Lancet Respiratory Medicine , 7 (3) pp. 227-238. (2019)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10071128/1/Rhodes_1-s2.0-S2213260018304090-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10071128Test/
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8دورية أكاديمية
المصدر: Covenant Journal of Engineering Technology, Vol 2, Iss 1 (2018)
مصطلحات موضوعية: Technology
وصف الملف: electronic resource
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9دورية أكاديمية
المصدر: COVENANT JOURNAL OF ENGINEERING TECHNOLOGY; CJET: Vol.2 No.1, June, 2018 ; 2682-5325 ; 2682-5317
وصف الملف: application/pdf
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10دورية أكاديمية
المؤلفون: Roy, N, Wilson, E, Henderson, S, Wray, K, Babbs, C, Okoli, S, Atoyebi, W, Mixon, A, Cahill, M, Carey, P, Cullis, J, Curtin, J, Dreau, H, Ferguson, D, Gibson, B, Hall, G, Mason, J, Morgan, M, Proven, M, Qureshi, A, Sanchez Garcia, J, Sirachainan, N, Teo, J, Tedgård, U, Higgs, D, Roberts, D, Roberts, I, Schuh, A
العلاقة: https://ora.ox.ac.uk/objects/uuid:a057074c-a55c-4815-b446-a1c3f7ef628aTest; https://doi.org/10.1111/bjh.14221Test
الإتاحة: https://doi.org/10.1111/bjh.14221Test
https://ora.ox.ac.uk/objects/uuid:a057074c-a55c-4815-b446-a1c3f7ef628aTest
النص الكامل