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المؤلفون: Hochberg, I, Demain, LAM, Richer, J, Thompson, K, Pagarkar, W, Seuma, ARP, Verdura, E, Pujol, A, Amberger, A, Deutschmann, AJ, Demetz, S, O'Sullivan, J, Gillespie, M, Belyantseva, IA, McMillan, HJ, Barzik, M, Urquhart, JE, Rea, A, Beaman, GM, Williams, SG, Bhaskar, SS, Lawrence, IR, Jenkinson, EM, Zambonin, JL, Blumenfeld, Z, Yalonetsky, S, Oerum, S, Rossmanith, W, Yue, WW, Zschocke, J, Munro, KJ, Battersby, BJ, Friedman, TB, Taylor, RW, O'Keefe, RT, Newman, WG
المصدر: European Journal of Human Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instnameالوصول الحر: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::b91a97209c5a137b56f9e0d5a8327d25Test
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=7266Test -
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المؤلفون: Ng, YS, Schaefer, A, Pitceathly, R, Nesbitt, V, Hall, J, Farrugia, M, Roberts, M, Poulton, J, Hanna, M, Taylor, RW, Turnbull, D, McFarland, R, Gorman, G
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______1064::c1a913803e2c3585780fe9ad7b543d51Test
https://doi.org/10.1111/ene.13698Test -
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المؤلفون: Ng, YS, Martikainen, M, Gorman, G, Blain, A, Bugiardini, E, Bunting, A, Schaefer, A, Alston, CL, Blakely, EL, Hughes, I, Lim, A, Degoede, C, McEntagart, M, Spinty, S, Horrocks, I, Chinnery, P, Horvath, R, Nesbitt, V, Fratter, C, Poulton, J, Hanna, M, Pitceathly, R, Taylor, RW, Turnbull, D, McFarland, R
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______1064::a9e0a514531f2ca259874b1236918180Test
https://ora.ox.ac.uk/objects/uuid:65d43f24-a25e-4a5d-95d0-6b3be8e1104fTest -
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المؤلفون: Feeney, CL, Lim, AZ, Fagan, E, Blain, A, Bright, A, Maddison, J, Devine, H, Stewart, J, Taylor, RW, Gorman, GS, Turnbull, DM, Nesbitt, V, McFarland, R
المصدر: Bjog
مصطلحات موضوعية: Adult, hypertension, Mitochondrial Diseases, Adolescent, Maternal Medicine, pregnant women with mitochondrial disease, Birthweight, DNA, Mitochondrial, breathing difficulties, Young Adult, gestation, Pregnancy, Humans, Point Mutation, MTTL1, Retrospective Studies, Infant, Newborn, Pregnancy Outcome, Middle Aged, United Kingdom, mitochondria, Pregnancy Complications, mitochondrial disease, m.3243A>G, Case-Control Studies, Female, gestational diabetes
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::61218dac632730da7e5f476425f54fe0Test
http://europepmc.org/articles/PMC6767368Test -
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المؤلفون: Ng, YS, Martikainen, MH, Gorman, GS, Blain, A, Bugiardini, E, Bunting, A, Schaefer, AM, Alston, CL, Blakely, EL, Sharma, S, Hughes, I, Lim, A, Degoede, C, McEntagart, M, Spinty, S, Horrocks, I, Roberts, M, Woodward, CE, Chinnery, PF, Horvath, R, Nesbitt, V, Fratter, C, Poulton, J, Hanna, MG, Pitceathly, RDS, Taylor, RW, Turnbull, DM, McFarland, R
المصدر: Annals of Neurology
مصطلحات موضوعية: Adult, Aged, 80 and over, Male, Mitochondrial Diseases, Adolescent, Genetic Variation, Middle Aged, Mitochondrial Proton-Translocating ATPases, Brief Communication, United Kingdom, Cohort Studies, Young Adult, Humans, Female, Brief Communications, Child, Aged, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5e406cb62705e9180f68b1e21123416eTest
http://ora.ox.ac.uk/objects/uuidTest: -
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المؤلفون: Alston, CL, Heidler, J, Dibley, MG, Kremer, LS, Taylor, LS, Fratter, C, French, CE, Glasgow, RIC, Feichtinger, RG, Delon, I, Pagnamenta, AT, Dolling, H, Lemonde, H, Aiton, N, Bjørnstad, A, Henneke, L, Gärtner, J, Thiele, H, Tauchmannova, K, Quaghebeur, G, Houstek, J, Sperl, W, Raymond, FL, Prokisch, H, Mayr, JA, McFarland, R, Poulton, J, Ryan, MT, Wittig, I, Henneke, M, Taylor, RW
المساهمون: French, Courtney [0000-0001-7620-1544], Dolling, Helen [0000-0001-6279-3622], Raymond, Lucy [0000-0003-2652-3355], Apollo - University of Cambridge Repository
المصدر: Am. J. Hum. Genet. 103, 592-601 (2018)
American Journal of Human Geneticsمصطلحات موضوعية: Male, Electron Transport Complex I, Mitochondrial Diseases, complex I, complexome profiling, Infant, Fibroblasts, Mitochondria, Mitochondrial Proteins, Complex I, Complexome Profiling, Mitochondrial Disease, Ndufa6, mitochondrial disease, Genetic Heterogeneity, NDUFA6, Phenotype, Report, Mutation, Humans, Female, ddc:610, Amino Acid Sequence, Sequence Alignment, Alleles
وصف الملف: application/pdf; application/octet-stream
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e7d80d600246ac70ef8c2bf3a169d48Test
https://www.repository.cam.ac.uk/handle/1810/293025Test -
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المؤلفون: Singh, SK, Taylor, RW, Rahman, MM, Pradhan, B
مصطلحات موضوعية: Machine Learning, Support Vector Machine, Humans, India, Environmental Pollutants, Bayes Theorem, Environmental Sciences, Algorithms, Arsenic
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______363::81fe8a3cd20babdc9f0ceed10afbad4aTest
https://hdl.handle.net/10453/130828Test -
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المؤلفون: Martin, CA, Sarlos, K, Logan, CV, Thakur, RS, Parry, DA, Bizard, AH, Leitch, A, Cleal, L, Ali, NS, Al-Owain, MA, Allen, W, Altmuller, J, Aza-Carmona, M, Barakat, BAY, Barraza-Garcia, J, Begtrup, A, Bogliolo, M, Cho, MT, Cruz-Rojo, J, Dhahrabi, HAM, Elcioglu, NH, GOSgene, Gorman, GS, Jobling, R, Kesterton, I, Kishita, Y, Kohda, M, Stabej, PLQ, Malallah, AJ, Nurnberg, P, Ohtake, A, Okazaki, Y, Pujol, R, Ramirez, MJ, Revah-Politi, A, Shimura, M, Stevens, P, Taylor, RW, Turner, L, Williams, H, Wilson, C, Yigit, G, Zahavich, L, Alkuraya, FS, Surralles, J, Iglesias, A, Murayama, K, Wollnik, B, Dattani, M, Heath, KE, Hickson, ID, Jackson, AP
المصدر: AMERICAN JOURNAL OF HUMAN GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instnameالوصول الحر: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::0bf6a51f6794f84405b1804b6295fc9bTest
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=3369Test -
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المؤلفون: Gill, JS, Hardy, SA, Blakely, EL, Hopton, S, Nemeth, AH, Fratter, C, Poulton, J, Taylor, RW, Downes, SM
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______1064::a338ea1eb3a82e220f1dcb3529aa93e1Test
https://ora.ox.ac.uk/objects/uuid:cedb9667-cba8-44b8-9c8e-a634fb4d1131Test -
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المؤلفون: Gill, JS, Hardy, SA, Blakely, EL, Hopton, S, Nemeth, AH, Fratter, C, Poulton, J, Taylor, RW, Downes, SM
المصدر: British Journal of Ophthalmology.
مصطلحات موضوعية: genetic structures
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______1064::74c7a0228095c60e1f5b49ed8df82378Test
http://ora.ox.ac.uk/objects/uuidTest: