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1دورية أكاديمية
المؤلفون: Alston, CL, Schaefer, AM, Raman, P, Solaroli, N, Krishnan, KJ, Blakely, EL, He, LP, Craig, K, Roberts, M, Vyas, A, Nixon, J, Horvath, R, Turnbull, DM, Karlsson, A, Gorman, GS, Taylor, RW
المصدر: Neurology. 81(23):2051-2053
مصطلحات موضوعية: Medicin och hälsovetenskap
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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
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1064::a9e0a514531f2ca259874b1236918180
https://ora.ox.ac.uk/objects/uuid:65d43f24-a25e-4a5d-95d0-6b3be8e1104f -
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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
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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
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e7d80d600246ac70ef8c2bf3a169d48
https://www.repository.cam.ac.uk/handle/1810/293025 -
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المؤلفون: Alston, CL, Howard, C, Olahova, M, Hardy, SA, He, L, Murray, PG, O'Sullivan, S, Doherty, G, Shield, JPH, Hargreaves, IP, Monavari, AA, Knerr, I, McCarthy, P, Morris, AAM, Thorburn, DR, Prokisch, H, Clayton, PE, McFarland, R, Hughes, J, Crushell, E, Taylor, RW
المصدر: Alston, C L, Howard, C, Oláhová, M, Hardy, S A, He, L, Murray, P G, O'Sullivan, S, Doherty, G, Hamilton-Shield, J P, Hargreaves, I P, Monavari, A A, Knerr, I, McCarthy, P W, Morris, A A M, Thorburn, D R, Prokisch, H, Clayton, P, McFarland, R, Hughes, J, Crushell, E & Taylor, R W 2016, ' A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype ', Journal of Medical Genetics, vol. 53, no. 9, pp. 634-641 . https://doi.org/10.1136/jmedgenet-2015-103576
Alston, C L, Howard, C, Oláhová, M, Hardy, S A, He, L, Murray, P G, O'Sullivan, S, Doherty, G, Shield, J P H, Hargreaves, I P, Monavari, A A, Knerr, I, McCarthy, P, Morris, A A M, Thorburn, D R, Prokisch, H, Clayton, P E, McFarland, R, Hughes, J, Crushell, E & Taylor, R W 2016, ' A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2015-103576
Journal of Medical Geneticsمصطلحات موضوعية: Male, RM, Mitochondrial Diseases, Dwarfism, dysmorphic features, QH301, complex I deficiency, Humans, Exome, Child, QH426, Genetic Association Studies, Electron Transport Complex I, Genotype-Phenotype Correlations, Homozygote, Facies, Infant, Mitochondria, Pedigree, mitochondrial disease, Phenotype, Child, Preschool, Mutation, Female, prognosis
وصف الملف: application/pdf
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المؤلفون: Ferrer-Cortès X, Narbona J, Bujan N, Matalonga L, Del Toro M, Arranz JA, Riudor E, Garcia-Cazorla A, Jou-Munoz C, O'Callaghan-Gordo M, Pineda M, Montero-Sanchez R, Arias A, García-Villoria J, Alston CL, Taylor RW, Briones P, Ribes A, Tort F
المصدر: Mitochondrion
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu -
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المؤلفون: Lax, NZ, Alston, CL, Schon, K, Park, S-M, Krishnakumar, D, He, L, Falkous, G, Ogilvy-Stuart, A, Lees, C, King, RH, Hargreaves, IP, Brown, GK, McFarland, R, Dean, AF, Taylor, RW
مصطلحات موضوعية: RM, Science & Technology, HYPERTROPHIC CARDIOMYOPATHY, FEATURES, Clinical Neurology, Neurosciences, MODIFIER, RARS2, ENCEPHALOPATHY, DEFECTS, Respiratory chain deficiency, ATAXIA, GENE, Mitochondrial disease, MITOCHONDRIAL, COMPLEX I DEFICIENCY, Pathology, Pontocerebellar hypoplasia type 6, Neurosciences & Neurology, LACTIC-ACIDOSIS, Life Sciences & Biomedicine
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::573aae8890957742776265d9d85406d8
http://hdl.handle.net/10044/1/27486 -
8دورية أكاديمية
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9دورية أكاديمية
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10دورية أكاديمية
المؤلفون: Pfeffer G, Blakely EL, Alston CL, Hassani A, Boggild M, Horvath R, Samuels DC, Taylor RW, Chinnery PF, Pfeffer, Gerald, Blakely, Emma L, Alston, Charlotte L, Hassani, Adam, Boggild, Mike, Horvath, Rita, Samuels, David C, Taylor, Robert W, Chinnery, Patrick F
المصدر: Journal of Neurology, Neurosurgery & Psychiatry; Sep2012, Vol. 83 Issue 9, p883-886, 4p