-
1دورية 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/
-
2دورية 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
المساهمون: Turnbull, Clare
مصطلحات موضوعية: Adolescent, Adult, Child, Preschool, Family Characteristics, Female, Genetic Variation, Genome, Human, Humans, Male, Middle Aged, Pilot Projects, Polymerase Chain Reaction, Rare Diseases, Sensitivity and Specificity, State Medicine, United Kingdom, Whole Genome Sequencing, Young Adult
جغرافية الموضوع: United States
وصف الملف: Print; 1880; application/pdf
العلاقة: New England Journal of Medicine, 2021, 385 (20), pp. 1868 - 1880; https://repository.icr.ac.uk/handle/internal/5462Test
الإتاحة: https://doi.org/10.1056/NEJMoa2035790Test
https://repository.icr.ac.uk/handle/internal/5462Test -
3دورية أكاديمية
المؤلفون: Reid, E, Papandreou, A, Drury, S, Boustred, C, Yue, W, Wedatilake, Y, Beesley, C, Jacques, T, Anderson, G, Abulhoul, L, Broomfield, A, Cleary, M, Grunewald, S, Varadkar, S, Lench, N, Rahman, S, Gissen, P, Clayton, P, Mills, P
العلاقة: https://ora.ox.ac.uk/objects/uuid:80f90bbf-0b53-44f7-ae94-07f981fd9648Test; https://doi.org/10.1093/brain/aww221Test
الإتاحة: https://doi.org/10.1093/brain/aww221Test
https://ora.ox.ac.uk/objects/uuid:80f90bbf-0b53-44f7-ae94-07f981fd9648Test -
4دورية أكاديمية
المؤلفون: Reid, ES, Papandreou, A, Drury, S, Boustred, C, Yue, WW, Wedatilake, Y, Beesley, C, Jacques, TS, Anderson, G, Abulhoul, L, Broomfield, A, Cleary, M, Grunewald, S, Varadkar, SM, Lench, N, Rahman, S, Gissen, P, Clayton, PT, Mills, PB
المصدر: Brain , 139 (11) pp. 2844-2854. (2016)
مصطلحات موضوعية: gene panel, heterogeneity, inborn errors of metabolism, neurometabolic disorders, next-generation sequencing
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1515891/1/2844.full.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1515891Test/
-
5دورية أكاديمية
المؤلفون: Heywood, WE, Camuzeaux, S, Doykov, I, Patel, N, Preece, RL, Footitt, E, Cleary, M, Clayton, P, Grunewald, S, Abulhoul, L, Chakrapani, A, Sebire, NJ, Hindmarsh, P, De Koning, TJ, Heales, S, Burke, D, Gissen, P, Mills, K
المصدر: Analytical Chemistry , 87 (24) pp. 12238-12244. (2015)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1481644/7/Heywood_AC%20MPS%20Maunscipt-%20Clean%20revised%20OCT2015.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1481644Test/
-
6دورية أكاديمية
المؤلفون: Broomfield, A, Sweeney, MG, Woodward, CE, Fratter, C, Morris, AM, Leonard, JV, Abulhoul, L, Grunewald, S, Clayton, PT, Hanna, MG, Poulton, J, Rahman, S
المصدر: Journal of Inherited Metabolic Disease , 38 (3) pp. 445-457. (2015)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1453993/1/Rahman_art%253A10.1007%252Fs10545-014-9778-4.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1453993Test/
-
7دورية أكاديمية
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
العلاقة: N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi:10.1056/NEJMoa2035790.; https://rde.dspace-express.com/handle/11287/622253Test; The New England journal of medicine
الإتاحة: https://doi.org/10.1056/NEJMoa2035790Test
https://rde.dspace-express.com/handle/11287/622253Test -
8دورية أكاديمية
المؤلفون: 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 AL, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IU, 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 NB, 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 AO, Ouwehand WH, Raymond FL, Chisholm J, Hill S, Bentley D, Scott RH, Fowler T, Rendon A, Caulfield M
-
9دورية أكاديمية
المؤلفون: van de Kamp, J.M. (Jiddeke M.), Betsalel, O.T. (Ofir), Mercimek-Mahmutoglu, S. (Saadet), Abulhoul, L. (L.), Grünewald, S. (Sonja), Anselm, I. (I.), Azzouz, H. (H.), Bratkovic, D. (D.), Brouwer, A.P.M. (Arjan) de, Hamel, B.C. (Ben), Kleefstra, T. (Tjitske), Yntema, H.G., Campistol, J.M., Vilaseca, M.A. (M.), Cheillan, D. (David), D'Hooghe, M. (M.), Diogo, L. (Luisa), Garcia, P. (Paula), Valongo, C. (C.), Fonseca, M. (M.), Frints, S.G.M. (Suzanna), Wilcken, B. (Bridget), Haar, S. (Sigrun) von der, Meijers-Heijboer, E.J. (Hanne), Hofstede, F.C. (Floris), Johnson, D. (David), Kant, S.G. (Sarina), Lion-Francois, L. (Laurence), Pitelet, G. (G.), Longo, N. (N.), Maat-Kievit, A.A. (Anneke), Monteiro, J.P. (J.), Munnich, A. (Arnold), Muntau, A.C. (A.), Nassogne, M.C. (M.), Osaka, H. (H.), Õunap, K. (Katrin), Pinard, J.M. (J.), Quijano-Roy, S. (S.), Poggenburg, I. (I.), Poplawski, N. (Nicola), Abdul-Rahman, O.A. (Omar), Ribes, A. (A.), Arias Pérez, J.I. (José Ignacio), Yaplito-Lee, J. (J.), Schulze, A. (A.), Schwartz, C.E., Schwenger, S. (S.), Soares, G. (G.), Sznajer, Y. (Yves), Valayannopoulos, V. (Vassili), Esch, H. (Hilde) van, Waltz, S. (S.), Wamelink, M.M.C. (Mirjam), Pouwels, P.J.W. (Petra), Errami, A. (Abdellatif), Knaap, M.S. (Marjo) van der, Jakobs, C. (Cornelis), Mancini, G.M.S. (Grazia), Salomons, G.S. (Gajja)
المصدر: Journal of Medical Genetics vol. 50 no. 7, pp. 463-472
العلاقة: http://repub.eur.nl/pub/66522Test; urn:hdl:1765/66522
-
10دورية أكاديمية
المؤلفون: Ferdinandusse, S, Waterham, HR, Heales, SJ, Brown, GK, Hargreaves, IP, Taanman, JW, Gunny, R, Abulhoul, L, Wanders, RJ, Clayton, PT, Leonard, JV, Rahman, S
المصدر: Orphanet J Rare Dis , 8 (1) , Article 188. (2013)
مصطلحات موضوعية: Mitochondrial disease, Multiple respiratory chain enzyme deficiencies, Pyruvate dehydrogenase deficiency, 3-hydroxy-isobutyryl-CoA hydrolase, HIBCH, Acylcarnitines, Multiple mitochondrial dysfunctions syndrome, Valine catabolism, Organic aciduria
وصف الملف: application/pdf
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1417134/1/1750-1172-8-188.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1417134Test/
