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1دورية أكاديمية
المؤلفون: Bis-Brewer, DM, Gan-Or, Z, Sleiman, P, Rodriguez, A, Bacha, A, Kosikowski, A, Wood, B, McCray, B, Blume, B, Siskind, C, Sumner, C, Calabrese, D, Walk, D, Vujovic, D, Park, E, Muntoni, F, Donlevy, G, Acsadi, G, Day, J, Burns, J, Li, J, Krajewski, K, Eichinger, K, Cornett, K, Mullen, K, Perez, L, Gutmann, L, Barrett, M, Saporta, M, Skorupinska, M, Grant, N, Bray, P, Seyedsadjadi, R, Zuccarino, R, Finkel, R, Lewis, R, Yum, S, Hilbert, S, Thomas, S, Behrens-Spraggins, S, Jones, T, Grider, T, Estilow, T, Fridman, V, Reilly, MM, Shy, ME, Bacon, CJ, Feely, SME, Rossor, AM, Herrmann, DN, Hakonarson, H, Fazal, S, Courel, S, Cintra, V, Tao, F, Estiar, MA, Tarnopolsky, M, Boycott, KM, Yoon, G, Suchowersky, O, Dupré, N, Cheng, A, Lloyd, TE, Rouleau, G, Schüle, R, Züchner, S
المصدر: Genetics in Medicine , 22 pp. 2114-2119. (2020)
مصطلحات موضوعية: Charcot–Marie–Tooth disease, hereditary spastic paraplegia, inherited axonopathy, mutational burden, oligogenic inheritance
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10113629/3/Reilly_Assessing%20non-Mendelian%20inheritance%20in%20inherited%20axonopathies_AAM.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10113629Test/
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2دورية أكاديمية
المؤلفون: Cortese, A, Zhu, Y, Rebelo, AP, Negri, S, Courel, S, Abreu, L, Bacon, CJ, Bai, Y, Bis-Brewer, DM, Bugiardini, E, Buglo, E, Danzi, MC, Feely, SME, Athanasiou-Fragkouli, A, Haridy, NA, Inherited Neuropathy Consortium, Isasi, R, Khan, A, Laurà, M, Magri, S, Pipis, M, Pisciotta, C, Powell, E, Rossor, AM, Saveri, P, Sowden, JE, Tozza, S, Vandrovcova, J, Dallman, J, Grignani, E, Marchioni, E, Scherer, SS, Tang, B, Lin, Z, Al-Ajmi, A, Schüle, R, Synofzik, M, Maisonobe, T, Stojkovic, T, Auer-Grumbach, M, Abdelhamed, MA, Hamed, SA, Zhang, R, Manganelli, F, Santoro, L, Taroni, F, Pareyson, D, Houlden, H, Herrmann, DN, Reilly, MM, Shy, ME, Zhai, RG, Zuchner, S
المصدر: Nature Genetics , 52 , Article 640. (2020)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10100097/3/Reilly_Biallelic%20Expansion%20of%20an%20intronic%20Repeat%20in%20the%20RFC1%20Gene%20is%20a%20common%20cause%20of%20Late-Onset%20Ataxia%20manuscript_cortese_etal_22jan2019_accepted.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10100097Test/
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3دورية أكاديمية
المؤلفون: Cortese, A, Zhu, Y, Rebelo, AP, Negri, S, Courel, S, Abreu, L, Bacon, CJ, Bai, Y, Bis-Brewer, DM, Bugiardini, E, Buglo, E, Danzi, MC, Feely, SME, Athanasiou-Fragkouli, A, Haridy, NA, Isasi, R, Khan, A, Laura, M, Magri, S, Pipis, M, Pisciotta, C, Powell, E, Rossor, AM, Saveri, P, Sowden, JE, Tozza, S, Vandrovcova, J, Dallman, J, Grignani, E, Marchioni, E, Scherer, SS, Tang, B, Lin, Z, Al-Ajmi, A, Schuele, R, Synofzik, M, Maisonobe, T, Stojkovic, T, Auer-Grumbach, M, Abdelhamed, MA, Hamed, SA, Zhang, R, Manganelli, F, Santoro, L, Taroni, F, Pareyson, D, Houlden, H, Herrmann, DN, Reilly, MM, Shy, ME, Zhai, RG, Zuchner, S
المصدر: Nature Genetics , 52 pp. 473-481. (2020)
مصطلحات موضوعية: DNA sequencing, Metabolic disorders, Motor neuron disease, Neuromuscular disease, Peripheral neuropathies
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10098077/3/Cortese_A_SORD_NatureGenetics_revised_accepeted_21jan2019.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10098077Test/
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4كتاب
المؤلفون: Bacon, CJ
المساهمون: Wankhade, P, McCann, L, Murphy, P
وصف الملف: application/pdf
العلاقة: http://usir.salford.ac.uk/id/eprint/52870/1/bare%20file%20chapter%207.pdfTest; Bacon, CJ orcid:0000-0002-6638-6984 2019, 'Beyond the scope of managerialism : explaining the organisational invisibility of police work' , in: Critical Perspectives on the Management and Organization of Emergency Services , Routledge Critical Studies in Public Management , Routledge.
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5دورية أكاديمية
المؤلفون: Bacon, CJ, Myers, TR, Karageorghis, CI
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6كتاب
المؤلفون: Bacon, CJ, Leach, CEA, Blair, PSP, Fleming, PJ, Smith, IJ, Ward-Platt, MP, Hall, DMB, Oldham, J
المساهمون: CESDI, London
المصدر: Bacon , CJ , Leach , CEA , Blair , PSP , Fleming , PJ , Smith , IJ , Ward-Platt , MP , Hall , DMB & Oldham , J 1998 , Sudden Unexpected Deaths in Infants - the Explained Group (Sudden Infant Deaths others than SIDS) . in CESDI & L (eds) , CESDI 5th Annual Report . Maternal and Child Health Research Consortium, London , pp. 25 - 39 .
العلاقة: https://research-information.bris.ac.uk/en/publications/de193cd6-4ba9-4ea2-8b40-1e590673bb0dTest; urn:ISBN:095333605
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7دورية أكاديمية
المؤلفون: Blain, PG, Mucklow, JC, Bacon, CJ, Rawlins, MD
المصدر: British Journal of Clinical Pharmacology ; volume 12, issue 5, page 659-661 ; ISSN 0306-5251 1365-2125
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8دورية أكاديمية
المؤلفون: Bacon, CJ, Mucklow, JC, Saunders, A, Rawlins, MD, Webb, JK
المصدر: British Journal of Clinical Pharmacology ; volume 5, issue 1, page 89-90 ; ISSN 0306-5251 1365-2125
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9دورية أكاديمية
المؤلفون: Blair, PSP, Smith, IJ, Fleming, PJ, Ward-Platt, M, Hall, D, Bacon, CJ, Bensley, D, Taylor, EM, Berry, PJ, Tripp, J, Golding, J
المصدر: Blair , PSP , Smith , IJ , Fleming , PJ , Ward-Platt , M , Hall , D , Bacon , CJ , Bensley , D , Taylor , EM , Berry , PJ , Tripp , J & Golding , J 1997 , ' The CESDI SUDI Study: Sleeping position, bedsharing and the sleeping environment in SIDS families ' , Anales Españoles de Pediatria , vol. Supp 92 , pp. 24 - 24 .
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10دورية أكاديمية
المؤلفون: Smith, IJ, Blair, PSP, Fleming, PJ, Ward-Platt, M, Hall, D, Bacon, CJ, Bensley, D, Taylor, EM, Berry, PJ, Tripp, J, Golding, J
المصدر: Smith , IJ , Blair , PSP , Fleming , PJ , Ward-Platt , M , Hall , D , Bacon , CJ , Bensley , D , Taylor , EM , Berry , PJ , Tripp , J & Golding , J 1997 , ' The CESDI SUDI Study: the shift to lower socio-economic status and the risk of infant exposure to tobacco smoke associated with SIDS ' , Anales Españoles de Pediatria , vol. Supp 92 , pp. 28 - 28 .
