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21دورية أكاديمية
المؤلفون: Nicholls, TJ, Nadalutti, CA, Motori, E, Sommerville, EW, Gorman, GS, Basu, S, Hoberg, E, Turnbull, DM, Chinnery, PF, Larsson, NG, Larsson, E, Falkenberg, M, Taylor, RW, Griffith, JD, Gustafsson, CM
المصدر: Molecular cell. 69(1):9
مصطلحات موضوعية: Medicin och hälsovetenskap
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22دورية أكاديميةPPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
المؤلفون: Guimier, A, Achleitner, MT, de Bellaing, AM, Edwards, M, de Pontual, L, Mittal, K, Dunn, KE, Grove, ME, Tysoe, CJ, Dimartino, C, Cameron, J, Kanthi, A, Shukla, A, van den Broek, F, Chatterjee, D, Alston, CL, Knowles, CV, Brett, L, Till, JA, Homfray, T, French, P, Spentzou, G, Elserafy, NA, Lichkus, KS, Sankaran, BP, Kennedy, HL, George, PM, Kidd, A, Wortmann, SB, Fisk, DG, Koopmann, TT, Rafiq, MA, Merker, JD, Parikh, S, Ahimaz, P, Weintraub, RG, Ma, AS, Turner, C, Ellaway, CJ, Phillips, LK, Thorburn, DR, Chung, WK, Kana, SL, Faye-Petersen, OM, Thompson, ML, Janin, A, McLeod, K, McGowan, R, McFarland, R, Girisha, KM, Morris-Rosendahl, DJ, Hurst, ACE, Turner, CLS, Hamilton, RM, Taylor, RW, Bajolle, F, Gordon, CT, Amiel, J, Mayr, JA, Doudney, K
العلاقة: pii: S1098-3600(21)05430-7; Guimier, A., Achleitner, M. T., de Bellaing, A. M., Edwards, M., de Pontual, L., Mittal, K., Dunn, K. E., Grove, M. E., Tysoe, C. J., Dimartino, C., Cameron, J., Kanthi, A., Shukla, A., van den Broek, F., Chatterjee, D., Alston, C. L., Knowles, C. V., Brett, L., Till, J. A. ,. Doudney, K. (2021). PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families. GENETICS IN MEDICINE, 23 (12), pp.2415-2425. https://doi.org/10.1038/s41436-021-01296-6Test.; http://hdl.handle.net/11343/301493Test
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23دورية أكاديمية
المؤلفون: Baty, K, Farrugia, ME, Hopton, S, Falkous, G, Schaefer, AM, Stewart, W, Willison, HJ, Reilly, MM, Blakely, EL, Taylor, RW, Ng, YS
المصدر: Neuromuscular Disorders , 31 (11) pp. 1186-1193. (2021)
مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences, Neurosciences & Neurology, Mitochondrial DNA, Muscle biopsy, Segregation study, MITOCHONDRIAL-DNA MUTATIONS, MYOPATHY, PATIENT
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10141624/1/1-s2.0-S0960896621001395-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10141624Test/
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24دورية أكاديمية
المؤلفون: Ng, YS, Lax, NZ, Blain, AP, Erskine, D, Baker, MR, Polvikoski, T, Thomas, RH, Morris, CM, Lai, M, Whittaker, RG, Gebbels, A, Winder, A, Hall, J, Feeney, C, Farrugia, ME, Hirst, C, Roberts, M, Lawthom, C, Chrysostomou, A, Murphy, K, Baird, T, Maddison, P, Duncan, C, Poulton, J, Nesbitt, V, Hanna, MG, Pitceathly, RDS, Taylor, RW, Blakely, EL, Schaefer, AM, Turnbull, DM, McFarland, R, Gorman, GS
المصدر: Brain , Article awab353. (2021) (In press).
مصطلحات موضوعية: MELAS, mitochondrial DNA (mtDNA), neuropathology, prognostic modelling, seizures
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10141365/1/awab353.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10141365Test/
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25دورية 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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26دورية أكاديمية
المؤلفون: Collier, JJ, Guissart, C, Oláhová, M, Sasorith, S, Piron-Prunier, F, Suomi, F, Zhang, D, Martinez-Lopez, N, Leboucq, N, Bahr, A, Azzarello-Burri, S, Reich, S, Schöls, L, Polvikoski, TM, Meyer, P, Larrieu, L, Schaefer, AM, Alsaif, HS, Alyamani, S, Zuchner, S, Barbosa, IA, Deshpande, C, Pyle, A, Rauch, A, Synofzik, M, Alkuraya, FS, Rivier, F, Ryten, M, McFarland, R, Delahodde, A, McWilliams, TG, Koenig, M, Taylor, RW
المصدر: New England Journal of Medicine , 384 (25) pp. 2406-2417. (2021)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10130931/1/nejmoa1915722.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10130931Test/
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27دورية أكاديمية
المؤلفون: Pantic, B, Ives, D, Mennuni, M, Perez-Rodriguez, D, Fernandez-Pelayo, U, Lopez de Arbina, A, Muñoz-Oreja, M, Villar-Fernandez, M, Dang, T-MJ, Vergani, L, Johnston, IG, Pitceathly, RDS, McFarland, R, Hanna, MG, Taylor, RW, Holt, IJ, Spinazzola, A
المصدر: Nature Communications , 12 (1) , Article 6997. (2021)
مصطلحات موضوعية: DNA metabolism, Energy metabolism, Molecular medicine
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10139799/1/Pantic_et_al-2021-Nature_Communications.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10139799Test/
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28دورية أكاديمية
المؤلفون: Taylor RW, Conlon CA, Beck KL, von Hurst PR, Te Morenga LA, Daniels L, Haszard JJ, Meldrum AM, McLean NH, Cox AM, Tukuafu L, Casale M, Brown KJ, Jones EA, Katiforis I, Rowan M, McArthur J, Fleming EA, Wheeler BJ, Houghton LA, Diana A, Heath A-LM
مصطلحات موضوعية: baby-led weaning, breast milk, choking, complementary feeding, dental health, diet, eating behavior, feeding behavior, food pouch, growth, infant, iron, 1103 Clinical Sciences, 1117 Public Health and Health Services
الوقت: Canada
وصف الملف: e29048 - ?
العلاقة: JMIR Res Protoc; https://www.ncbi.nlm.nih.gov/pubmed/33881411Test; v10i4e29048; JMIR Res Protoc, 2021, 10 (4), pp. e29048 - ?; http://hdl.handle.net/10179/19835Test; 444477; Massey_Dark
الإتاحة: https://doi.org/10.2196/29048Test
http://hdl.handle.net/10179/19835Test
https://www.ncbi.nlm.nih.gov/pubmed/33881411Test -
29دورية أكاديمية
المؤلفون: Butler, ÉM, Pillai, A, Morton, SMB, Seers, BM, Walker, CG, Ly, K, Tautolo, E-S, Glover, M, Taylor, RW, Cutfield, WS, Derraik, JGB, COPABS Collaborators
وصف الملف: application/pdf
العلاقة: https://www.nature.com/articles/s41598-021-85557-zTest; Scientific Reports 11, 6380 (2021). https://doi.org/10.1038/s41598-021-85557-zTest; https://hdl.handle.net/10292/14355Test
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30دورية أكاديمية
المؤلفون: Poole, OV, Horga, A, Hardy, SA, Bugiardini, E, Woodward, CE, Hargreaves, IP, Merve, A, Quinlivan, R, Taylor, RW, Hanna, MG, Pitceathly, RDS
المصدر: Neurology Genetics , 6 (2) , Article e413. (2020) (In press).
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10093830/1/e413.full.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10093830Test/
النص الكامل