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1دورية أكاديمية
المؤلفون: Macken, William L., Falabella, Micol, Pizzamiglio, Chiara, Woodward, Cathy E., Scotchman, Elizabeth, Chitty, Lyn S., Polke, James M., Bugiardini, Enrico, Hanna, Michael G., Vandrovcova, Jana, Chandler, Natalie, Labrum, Robyn, Pitceathly, Robert D.S.
المصدر: Expert Review of Molecular Diagnostics ; volume 23, issue 9, page 797-814 ; ISSN 1473-7159 1744-8352
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2دورية أكاديمية
المؤلفون: Macken, William L, Falabella, Micol, McKittrick, Caroline, Pizzamiglio, Chiara, Ellmers, Rebecca, Eggleton, Kelly, Woodward, Cathy E, Patel, Yogen, Labrum, Robyn, Genomics England Research Consortium, Phadke, Rahul, Reilly, Mary M, DeVile, Catherine, Sarkozy, Anna, Footitt, Emma, Davison, James, Rahman, Shamima, Houlden, Henry, Bugiardini, Enrico, Quinlivan, Rosaline, Hanna, Michael G, Vandrovcova, Jana, Pitceathly, Robert DS
المصدر: Nature Communications , 13 , Article 6324. (2022)
مصطلحات موضوعية: Genetic testing, Metabolic disorders, Neuromuscular disease
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10159376/1/s41467-022-32908-7.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10159376Test/
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3دورية أكاديمية
المؤلفون: Macken, William L., Falabella, Micol, McKittrick, Caroline, Pizzamiglio, Chiara, Ellmers, Rebecca, Eggleton, Kelly, Woodward, Cathy E., Patel, Yogen, Labrum, Robyn, Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M. A., Caulfield, M. J., Chan, G. C., Giess, A., Griffin, J. N., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O’Donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A.
المصدر: Nature Communications ; volume 13, issue 1 ; ISSN 2041-1723
مصطلحات موضوعية: General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, General Chemistry, Multidisciplinary
الإتاحة: https://doi.org/10.1038/s41467-022-32908-7Test
https://www.nature.com/articles/s41467-022-32908-7.pdfTest
https://www.nature.com/articles/s41467-022-32908-7Test -
4دورية أكاديمية
المؤلفون: Falabella, Micol, Tabara, Luis Carlos, Poole, Olivia V., Tatsuta, Takashi, Lu, Shanti, Woodward, Cathy E., Labrum, Robyn, Hewamadduma, Channa, Fernandez-Vizarra, Erika, Langer, Thomas, Taanman, Jan-Willem, Hanna, Michael G., Prudent, Julien, Spinazzola, Antonella, Pitceathly, Robert D.S.
المصدر: Biochimica et Biophysica Acta (BBA) - Bioenergetics ; volume 1863, page 148844 ; ISSN 0005-2728
مصطلحات موضوعية: Cell Biology, Biochemistry, Biophysics
الإتاحة: https://doi.org/10.1016/j.bbabio.2022.148844Test
https://api.elsevier.com/content/article/PII:S0005272822003140?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0005272822003140?httpAccept=text/plainTest -
5دورية أكاديمية
المؤلفون: Poole, Olivia V, Pizzamiglio, Chiara, Murphy, David, Falabella, Micol, Macken, William L, Bugiardini, Enrico, Woodward, Cathy E, Labrum, Robyn, Efthymiou, Stephanie, Salpietro, Vincenzo, Chelban, Viorica, Kaiyrzhanov, Rauan, Maroofian, Reza, Synaps Group, Aguennouz, M'hammed, Di Rosa, Gabriella, Amato, Anthony A, Gregory, Allison, Hayflick, Susan J, Jonvik, Hallgeir, Wood, Nicholas, Houlden, Henry, Vandrovcova, Jana, Hanna, Michael G, Pittman, Alan, Pitceathly, Robert D S
المساهمون: Poole, Olivia V, Pizzamiglio, Chiara, Murphy, David, Falabella, Micol, Macken, William L, Bugiardini, Enrico, Woodward, Cathy E, Labrum, Robyn, Efthymiou, Stephanie, Salpietro, Vincenzo, Chelban, Viorica, Kaiyrzhanov, Rauan, Maroofian, Reza, Synaps, Group, Aguennouz, M'Hammed, Di Rosa, Gabriella, Amato, Anthony A, Gregory, Allison, Hayflick, Susan J, Jonvik, Hallgeir, Wood, Nichola, Houlden, Henry, Vandrovcova, Jana, Hanna, Michael G, Pittman, Alan, Pitceathly, Robert D S
مصطلحات موضوعية: mitochondrial DNA, reduced nicotinamide adenine dinucleotide dehydrogenase (ubiquinone)
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33704825; info:eu-repo/semantics/altIdentifier/wos/WOS:000635639000001; volume:89; issue:6; firstpage:1240; lastpage:1247; numberofpages:8; journal:ANNALS OF NEUROLOGY; https://hdl.handle.net/11570/3198999Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85103934266
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6دورية أكاديمية
المؤلفون: Forny, Patrick, Footitt, Emma, Davison, James E., Lam, Amanda, Woodward, Cathy E., Batzios, Spyros, Bhate, Sanjay, Chakrapani, Anupam, Cleary, Maureen, Gissen, Paul, Grunewald, Stephanie, Hurst, Jane A., Scott, Richard, Heales, Simon, Jacques, Thomas S., Cullup, Thomas, Rahman, Shamima
المصدر: Neurology Genetics ; volume 7, issue 3 ; ISSN 2376-7839
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7دورية أكاديمية
المؤلفون: Colasanti, Alessandro, Bugiardini, Enrico, Amawi, Sami, Poole, Olivia V, Skorupinska, Iwona, Skorupinska, Mariola, Germain, Louise, Kozyra, Damian, Holmes, Sarah, James, Natalie, Woodward, Cathy E, Quinlivan, Rosaline, Young, Allan H, Hanna, Michael G, Pitceathly, Robert D S
مصطلحات موضوعية: PostScript
وصف الملف: text/html
العلاقة: http://jnnp.bmj.com/cgi/content/short/91/8/892Test; http://dx.doi.org/10.1136/jnnp-2020-323632Test
الإتاحة: https://doi.org/10.1136/jnnp-2020-323632Test
http://jnnp.bmj.com/cgi/content/short/91/8/892Test -
8دورية أكاديمية
المؤلفون: Poole, Olivia V., Horga, Alejandro, Hardy, Steven A., Bugiardini, Enrico, Woodward, Cathy E., Hargreaves, Iain P., Merve, Ashirwad, Quinlivan, Rosaline, Taylor, Robert W., Hanna, Michael G., Pitceathly, Robert D.S.
المصدر: Neurology Genetics ; volume 6, issue 2 ; ISSN 2376-7839
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9دورية أكاديمية
المؤلفون: Ng, Yi Shiau, Martikainen, Mika H., Gorman, Gráinne S., Blain, Alasdair, Bugiardini, Enrico, Bunting, Apphia, Schaefer, Andrew M., Alston, Charlotte L., Blakely, Emma L., Sharma, Sunil, Hughes, Imelda, Lim, Albert, de Goede, Christian, McEntagart, Meriel, Spinty, Stefan, Horrocks, Iain, Roberts, Mark, Woodward, Cathy E., Chinnery, Patrick F., Horvath, Rita, Nesbitt, Victoria, Fratter, Carl, Poulton, Joanna, Hanna, Michael G., Pitceathly, Robert D. S., Taylor, Robert W., Turnbull, Doug M., McFarland, Robert
المساهمون: Biotechnology and Biological Sciences Research Council, H2020 European Research Council, Medical Research Council Canada, National Institute for Health Research, Newton Fund, Sigrid Juséliuksen Säätiö, Wellcome Trust
المصدر: Annals of Neurology ; volume 86, issue 2, page 310-315 ; ISSN 0364-5134 1531-8249
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10دورية أكاديمية
المؤلفون: Bugiardini, Enrico, Poole, Olivia V, Manole, Andreea, Pittman, Alan M, Horga, Alejandro, Hargreaves, Iain, Woodward, Cathy E, Sweeney, Mary G, Holton, Janice L, Taanman, Jan-willem, Plant, Gordon T, Poulton, Joanna, Zeviani, Massimo, D. Ghezzi, Taylor, John, Smith, Conrad, Fratter, Carl, Kanikannan, Meena A, Paramasivam, Arumugam, Thangaraj, Kumarasamy, Spinazzola, Antonella, Holt, Ian J, Houlden, Henry, Hanna, Michael G, Pitceathly, Robert D. S.
المساهمون: E. Bugiardini, O.V. Poole, A. Manole, A.M. Pittman, A. Horga, I. Hargreave, C.E. Woodward, M.G. Sweeney, J.L. Holton, J. Taanman, G.T. Plant, J. Poulton, M. Zeviani, D. Ghezzi, J. Taylor, C. Smith, C. Fratter, M.A. Kanikannan, A. Paramasivam, K. Thangaraj, A. Spinazzola, I.J. Holt, H. Houlden, M.G. Hanna, R.D.S. Pitceathly
مصطلحات موضوعية: Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28508084; info:eu-repo/semantics/altIdentifier/wos/WOS:000425030300003; volume:3; issue:3; firstpage:e149; lastpage:1; numberofpages:7; journal:NEUROLOGY. GENETICS; http://hdl.handle.net/2434/531240Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85048730322
