المؤلفون: Themistocleous, AC, Baskozos, G, Blesneac, I, Comini, M, Megy, K, Chong, S, Deevi, SVV, Ginsberg, L, Gosal, D, Hadden, RDM, Horvath, R, Mahdi-Rogers, M, Manzur, A, Mapeta, R, Marshall, A, Matthews, E, McCarthy, MI, Reilly, MM, Renton, T, Rice, ASC, Vale, TA, van Zuydam, N, Walker, SM, Woods, CG, Bennett, DLH

المساهمون: BioResource, NIHR

العلاقة: https://ora.ox.ac.uk/objects/uuid:da15e595-aa30-482e-8c72-11a11a7efa52Test; https://doi.org/10.1093/braincomms/fcad037Test

الإتاحة: https://doi.org/10.1093/braincomms/fcad037Test
https://ora.ox.ac.uk/objects/uuid:da15e595-aa30-482e-8c72-11a11a7efa52Test

المؤلفون: Themisctocleous, AC, Baskovos, G, Blesneac, I, Comini, M, Megy, K, Chong, S, Deevi, SVV, Ginsberg, L, Gosal, D, Hadden, RDM, Horvath, R, Mahdi-Rogers, M, Manzur, A, Mapeta, R, Marshall, A, Matthews, EL, McCarthy, MI, Reilly, MM, Renton, T, Rice, ASC, Vale, TA, Van Zuydam, N, Walker, SM, Woods, CG, Bennett, DLH, NIHR BioResource

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/114973/6/fcad037.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/114973/11/fcad037_supplementary_data.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/114973/1/BRAINCOM-2022-323.R1_Proof_hi.pdfTest; Themisctocleous, AC; Baskovos, G; Blesneac, I; Comini, M; Megy, K; Chong, S; Deevi, SVV; Ginsberg, L; Gosal, D; Hadden, RDM; et al. Themisctocleous, AC; Baskovos, G; Blesneac, I; Comini, M; Megy, K; Chong, S; Deevi, SVV; Ginsberg, L; Gosal, D; Hadden, RDM; Horvath, R; Mahdi-Rogers, M; Manzur, A; Mapeta, R; Marshall, A; Matthews, EL; McCarthy, MI; Reilly, MM; Renton, T; Rice, ASC; Vale, TA; Van Zuydam, N; Walker, SM; Woods, CG; Bennett, DLH; NIHR BioResource (2023) Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort. Brain Communications, 5 (2). fcad037. ISSN 2632-1297 https://doi.org/10.1093/braincomms/fcad037Test SGUL Authors: Matthews, Emma Louise

الإتاحة: https://doi.org/10.1093/braincomms/fcad037Test
https://openaccess.sgul.ac.uk/id/eprint/114973Test/
https://openaccess.sgul.ac.uk/id/eprint/114973/6/fcad037.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/114973/11/fcad037_supplementary_data.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/114973/1/BRAINCOM-2022-323.R1_Proof_hi.pdfTest

المؤلفون: Bierzynska, A., Bull, K., Miellet, S., Dean, P., Neal, C., Colby, E., McCarthy, H. J., Hegde, S., Sinha, M. D., Bugarin Diz, C., Stirrups, K., Megy, K., Mapeta, R., Penkett, C., Marsh, S., Forrester, N., Afzal, M., Stark, H., BioResource, N., Williams, M., Welsh, G. I., Koziell, A. B., Hartley, Paul S., Saleem, M. A.

وصف الملف: application/pdf

العلاقة: https://eprints.bournemouth.ac.uk/36706/1/0e5dde44-9519-467a-824c-5c518d9f1e7f%20%281%29.pdfTest; Bierzynska, A., Bull, K., Miellet, S., Dean, P., Neal, C., Colby, E., McCarthy, H. J., Hegde, S., Sinha, M. D., Bugarin Diz, C., Stirrups, K., Megy, K., Mapeta, R., Penkett, C., Marsh, S., Forrester, N., Afzal, M., Stark, H., BioResource, N., Williams, M., Welsh, G. I., Koziell, A. B., Hartley, P. S. and Saleem, M. A., 2022. Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model. Pediatric Nephrology, 37, 2643-2656.

الإتاحة: http://eprints.bournemouth.ac.uk/36706Test/
https://eprints.bournemouth.ac.uk/36706/1/0e5dde44-9519-467a-824c-5c518d9f1e7f%20%281%29.pdfTest

المؤلفون: Prapa, M., Lago-Docampo, M., Swietlik, E.M., Montani, D., Eyries, M., Humbert, M., Welch, C.C.L., Chung, W., Berger, R.M.F., Bogaard, H.J., Danhaive, O., Escribano-Subías, P., Gall, H., Girerd, B., Hernandez-Gonzalez, I., Holden, S., Hunt, D., Jansen, S.M.A., Kerstjens-Frederikse, W., Kiely, D., Lapunzina, P., McDermott, J., Moledina, S., Pepke-Zaba, J., Polwarth, G.J., Schotte, G., Tenorio-Castaño, J., Thompson, A.A.R., Wharton, J., Wort, S.J., Megy, K., Mapeta, R., Treacy, C.M., Martin, J.M., Li, W., Swift, A.J., Upton, P.D., Morrell, N.W., Gräf, S., Valverde, D.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/191107/1/First%20Genotype-Phenotype%20Study%20in%20TBX4%20Syndrome_%20Gain-of-Function%20Mutations%20Causative%20for%20Lung%20Disease.pdfTest; Prapa, M., Lago-Docampo, M., Swietlik, E.M. et al. (37 more authors) (2022) First genotype-phenotype study in TBX4 syndrome : gain-of-function mutations causative for lung disease. American Journal of Respiratory and Critical Care Medicine. ISSN 1073-449X

الإتاحة: https://eprints.whiterose.ac.uk/191107Test/
https://eprints.whiterose.ac.uk/191107/1/First%20Genotype-Phenotype%20Study%20in%20TBX4%20Syndrome_%20Gain-of-Function%20Mutations%20Causative%20for%20Lung%20Disease.pdfTest

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/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10138417/1/nejmoa2035790.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10138417Test/

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

المؤلفون: Bury, L, Megy, K, Stephens, JC, Grassi, L, Greene, D, Gleadall, N, Althaus, K, Allsup, D, Bariana, TK, Bonduel, M, Butta, NV, Collins, P, Curry, N, Deevi, SVV, Downes, K, Duarte, D, Elliott, K, Falcinelli, E, Furie, B, Keeling, D, Lambert, MP, Linger, R, Mangles, S, Mapeta, R, Millar, CM, Penkett, C, Perry, DJ, Stirrups, KE, Turro, E, Westbury, SK, Wu, J, BioResource, Nihr, Gomez, K, Freson, K, Ouwehand, WH, Gresele, P, Simeoni, I

العلاقة: https://ora.ox.ac.uk/objects/uuid:4d120d15-3ef5-438e-8749-3e2505c7220aTest; https://doi.org/10.1002/humu.23927Test

الإتاحة: https://doi.org/10.1002/humu.23927Test
https://ora.ox.ac.uk/objects/uuid:4d120d15-3ef5-438e-8749-3e2505c7220aTest

المؤلفون: Turro, E, Astle, WJ, Megy, K, Gräf, S, Greene, D, Shamardina, O, Allen, HL, Sanchis-Juan, A, Frontini, M, Thys, C, Stephens, J, Mapeta, R, Burren, OS, Downes, K, Haimel, M, Tuna, S, Deevi, SVV, Aitman, TJ, Bennett, DL, Calleja, P, Carss, K, Caulfield, MJ, Chinnery, PF, Dixon, PH, Gale, DP, James, R, Koziell, A, Laffan, MA, Levine, AP, Maher, ER, Markus, HS, Morales, J, Morrell, NW, Mumford, AD, Ormondroyd, E, Rankin, S, Rendon, A, Richardson, S, Roberts, I, Roy, NBA, Saleem, MA, Smith, KGC, Stark, H, Tan, RYY, Themistocleous, AC, Thrasher, AJ, Watkins, H, Webster, AR, Wilkins, MR, Williamson, C, Whitworth, J, Humphray, S, Bentley, DR, NIHR BioResource for the 100,000 Genomes Project, ., Kingston, N, Walker, N, Bradley, JR, Ashford, S, Penkett, CJ, Freson, K, Stirrups, KE, Raymond, FL, Ouwehand, WH

المصدر: Nature , 583 pp. 96-102. (2020)

مصطلحات موضوعية: Computational biology and bioinformatics, Disease genetics, Genetics research

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10103489/1/Gale_Whole-genome%20sequencing%20of%20patients%20with%20rare%20diseases%20in%20a%20national%20health%20system_AAM.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10103489Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10103489/1/Gale_Whole-genome%20sequencing%20of%20patients%20with%20rare%20diseases%20in%20a%20national%20health%20system_AAM.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10103489Test/

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/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10071128/1/Rhodes_1-s2.0-S2213260018304090-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10071128Test/

المؤلفون: Whitworth, J, Smith, PS, Martin, J-E, West, H, Luchetti, A, Rodger, F, Clark, G, Carss, K, Stephens, J, Stirrups, K, Penkett, C, Mapeta, R, Ashford, S, Megy, K, Shakeel, H, Ahmed, M, Adlard, J, Barwell, J, Brewer, C, Casey, RT, Armstrong, R, Cole, T, Evans, DG, Fostira, F, Greenhalgh, L, Hanson, H, Henderson, A, Hoffman, J, Izatt, L, Kumar, A, Kwong, A, Lalloo, F, Ong, KR, Paterson, J, Park, S-M, Chen-Shtoyerman, R, Searle, C, Side, L, Skytte, A-B, Snape, K, Woodward, ER, Tischkowitz, MD, Maher, ER, Aitman, T, Alachkar, H, Ali, S, Allen, L, Allsup, D, Ambegaonkar, G, Anderson, J, Antrobus, R, Arno, G, Arumugakani, G, Astle, W, Attwood, A, Austin, S, Bacchelli, C, Bakchoul, T, Bariana, TK, Baxendale, H, Bennett, D, Bethune, C, Bibi, S, Bitner-Glindzicz, M, Bleda, M, Boggard, H, Bolton-Maggs, P, Booth, C, Bradley, JR, Brady, A, Brown, M, Browning, M, Bryson, C, Burns, S, Calleja, P, Canham, N, Carmichael, J, Caulfield, M, Chalmers, E, Chandra, A, Chinnery, P, Chitre, M, Church, C, Clement, E, Clements-Brod, N, Clowes, V, Coghlan, G, Collins, P, Cookson, V, Cooper, N, Corris, P, Creaser-Myers, A, Dacosta, R, Daugherty, L, Davies, S, Davis, J, De Vries, M, Deegan, P, Deevi, SVV, Deshpande, C, Devlin, L, Dewhurst, E, Dixon, P, Doffinger, R, Dormand, N, Drewe, E, Edgar, D, Egner, W, Erber, WN, Erwood, M, Everington, T, Favier, R, Firth, H, Fletcher, D, Flinter, F, Frary, A, Freson, K, Furie, B, Furnell, A, Gale, D, Gardham, A, Gattens, M, Ghali, N, Ghataorhe, PK, Ghurye, R, Gibbs, S, Gilmour, K, Gissen, P, Goddard, S, Gomez, K, Gordins, P, Graf, S, Gräf, S, Greene, D, Greenhalgh, A, Greinacher, A, Grigoriadou, S, Grozeva, D, Hackett, S, Hadinnapola, C, Hague, R, Haimel, M, Halmagyi, C, Hammerton, T, Hart, D, Hayman, G, Heemskerk, JWM, Henderson, R, Hensiek, A, Henskens, Y, Herwadkar, A, Holden, S, Holder, M, Holder, S, Hu, F, Veld, A, Huissoon, A, Humbert, M, Hurst, J, James, R, Jolles, S, Josifova, D, Kazmi, R, Keeling, D, Kelleher, P, Kelly, AM, Kennedy, F, Kiely, D, Kingston, N, Koziell, A, Krishnakumar, D, Kuijpers, TW, Kuijpers, T, Kumararatne, D, Kurian, M, Laffan, MA, Lambert, MP, Allen, HL, Lango-Allen, H, Lawrie, A, Lear, S, Lees, M, Lentaigne, C, Liesner, R, Linger, R, Longhurst, H, Lorenzo, L, Louka, E, Machado, R, Ross, RM, Maclaren, R, Maher, E, Maimaris, J, Mangles, S, Manson, A, Markus, HS, Martin, J, Masati, L, Mathias, M, Matser, V, Maw, A, McDermott, E, McJannet, C, Meacham, S, Meehan, S, Mehta, S, Michaelides, M, Millar, CM, Moledina, S, Moore, A, Morrell, N, Mumford, A, Murng, S, Murphy, E, Nejentsev, S, Noorani, S, Nurden, P, Oksenhendler, E, Othman, S, Ouwehand, WH, Papadia, S, Parker, A, Pasi, J, Patch, C, Payne, J, Peacock, A, Peerlinck, K, Penkett, CJ, Pepke-Zaba, J, Perry, D, Perry, DJ, Pollock, V, Polwarth, G, Ponsford, M, Qasim, W, Quinti, I, Rankin, S, Rankin, J, Raymond, FL, Rayner-Matthews, P, Rehnstrom, K, Reid, E, Rhodes, CJ, Richards, M, Richardson, S, Richter, A, Roberts, I, Rondina, M, Rosser, E, Roughley, C, Roy, N, Rue-Albrecht, K, Samarghitean, C, Sanchis-Juan, A, Sandford, R, Santra, S, Sargur, R, Savic, S, Schotte, G, Schulman, S, Schulze, H, Scott, R, Scully, M, Seneviratne, S, Sewell, C, Shamardina, O, Shipley, D, Simeoni, I, Sivapalaratnam, S, Smith, KGC, Sohal, A, Southgate, L, Staines, S, Staples, E, Stark, H, Stauss, H, Stein, P, Stock, S, Suntharalingam, J, Talks, K, Tan, Y, Thachil, J, Thaventhiran, J, Thomas, E, Thomas, M, Thompson, D, Thrasher, A, Tischkowitz, M, Titterton, C, Toh, C-H, Toshner, M, Treacy, C, Trembath, R, Tuna, S, Turek, W, Turro, E, Van Geet, C, Veltman, M, Vogt, J, Von Ziegenweldt, J, Noordegraaf, AV, Wakeling, E, Wanjiku, I, Warner, TQ, Wassmer, E, Watkins, H, Watt, C, Webster, N, Welch, S, Westbury, S, Wharton, J, Whitehorn, D, Wilkins, M, Willcocks, L, Williamson, C, Woods, G, Wort, J, Yeatman, N, Yong, P, Young, T, Yu, P

العلاقة: https://ora.ox.ac.uk/objects/uuid:bc80f094-4f35-4e40-ac4d-35fbcbbcf9dcTest; https://doi.org/10.1016/j.ajhg.2018.04.013Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2018.04.013Test
https://ora.ox.ac.uk/objects/uuid:bc80f094-4f35-4e40-ac4d-35fbcbbcf9dcTest