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1دورية أكاديمية
المؤلفون: Nicole J. Van Bergen, Sean Massey, Tegan Stait, Molly Ellery, Boris Reljić, Luke E. Formosa, Anita Quigley, Mirella Dottori, David Thorburn, David A. Stroud, John Christodoulou
المصدر: Neurobiology of Disease, Vol 155, Iss , Pp 105370- (2021)
مصطلحات موضوعية: CDKL5, CDKL5 deficiency disorder, Mitochondria, Induced pluripotent stem cell, Oxidative phosphorylation, Proteomics, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S0969996121001194Test; https://doaj.org/toc/1095-953XTest
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المؤلفون: Diana Stojanovski, Jordan Crameri, Megan Baker, Ann Frazier, David Thorburn
المصدر: Open Biology. 12
مصطلحات موضوعية: General Neuroscience, Immunology, General Biochemistry, Genetics and Molecular Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d51c1ce9f41125dfe6f34776fa1f135Test
https://doi.org/10.1098/rsob.220274Test -
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المؤلفون: Adam M. Bournazos, Lisa G. Riley, Shobhana Bommireddipalli, Lesley Ades, Lauren S. Akesson, Mohammad Al-Shinnag, Stephen I. Alexander, Alison D. Archibald, Shanti Balasubramaniam, Yemima Berman, Victoria Beshay, Kirsten Boggs, Jasmina Bojadzieva, Natasha J. Brown, Samantha J. Bryen, Michael F. Buckley, Belinda Chong, Mark R. Davis, Ruebena Dawes, Martin Delatycki, Liz Donaldson, Lilian Downie, Caitlin Edwards, Matthew Edwards, Amanda Engel, Lisa J. Ewans, Fathimath Faiz, Andrew Fennell, Michael Field, Mary-Louise Freckmann, Lyndon Gallacher, Russell Gear, Himanshu Goel, Shuxiang Goh, Linda Goodwin, Bernadette Hanna, James Harraway, Megan Higgins, Gladys Ho, Bruce K. Hopper, Ari E. Horton, Matthew F. Hunter, Aamira J. Huq, Sarah Josephi-Taylor, Himanshu Joshi, Edwin Kirk, Emma Krzesinski, Kishore R. Kumar, Frances Lemckert, Richard J. Leventer, Suzanna E. Lindsey-Temple, Sebastian Lunke, Alan Ma, Steven Macaskill, Amali Mallawaarachchi, Melanie Marty, Justine E. Marum, Hugh J. McCarthy, Manoj P. Menezes, Alison McLean, Di Milnes, Shekeeb Mohammad, David Mowat, Aram Niaz, Elizabeth E. Palmer, Chirag Patel, Shilpan G. Patel, Dean Phelan, Jason R. Pinner, Sulekha Rajagopalan, Matthew Regan, Jonathan Rodgers, Miriam Rodrigues, Richard H. Roxburgh, Rani Sachdev, Tony Roscioli, Ruvishani Samarasekera, Sarah A. Sandaradura, Elena Savva, Tim Schindler, Margit Shah, Ingrid B. Sinnerbrink, Janine M. Smith, Richard J. Smith, Amanda Springer, Zornitza Stark, Samuel P. Strom, Carolyn M. Sue, Kenneth Tan, Tiong Y. Tan, Esther Tantsis, Michel C. Tchan, Bryony A. Thompson, Alison H. Trainer, Karin van Spaendonck-Zwarts, Rebecca Walsh, Linda Warwick, Stephanie White, Susan M. White, Mark G. Williams, Meredith J. Wilson, Wui Kwan Wong, Dale C. Wright, Patrick Yap, Alison Yeung, Helen Young, Kristi J. Jones, Bruce Bennetts, Sandra T. Cooper, Ghusoon Abdulrasool, Ghamdan Al Eryani, Peer Arts, Richard Bagnall, Naomi L. Baker, Christopher Barnett, Sarah Beecroft, Marina Berbic, Michael Black, Jim Blackburn, Piers Blombery, Susan Branford, Jimmy Breen, Leslie Burnett, Daffodil Canson, Pak Cheong, Edward Chew, John Christodoulou, Seo-Kyung Chung, Mike Clark, Corrina Cliffe, Melissa Cole, Felicity Collins, Alison Compton, Antony Cooper, Mark Corbett, Mark Cowley, Tracy Dudding, Stefanie Eggers, Eduardo Eyras, Miriam Fanjul Fernandez, Andrew Fellowes, Ron Fleischer, Chiara Folland, Lucy Fox, Clara Gaff, Melanie Galea, Roula Ghaoui, Ilias Gornanitis, Thuong Ha, Rippei Hayashi, Ian Hayes, Alex Henderson, Luke Hesson, Erin Heyer, Michael Hildebrand, Michael Hipwell, Cass Hoskins, Matilda Jackson, Paul James, Justin Jong-Leong Wong, Karin Kassahn, Peter Kaub, Lucy Kevin, Smitha Kumble, Sarah Kummerfeld, Nigel Laing, Chiyan Lau, Eric Lee, Sarah Leighton, Ben Lundie, Chelsea Mayoh, Julie McGaughran, Mary McPhillips, Cliff Meldrum, Edwina Middleton, Kym Mina, Amy Nisselle, Emily Oates, Alicia Oshlack, Gayathri Parasivam, Michael Parsons, Michael Quinn, John Rasko, Gina Ravenscroft, Anja Ravine, Krista Recsei, Jacqueline Rehn, Stephen Robertson, Anne Ronan, Georgina Ryland, Simon Sadedin, Andreas Schreiber, Hamish Scott, Rodney Scott, Christopher Semsarian, Cas Simons, Emma Singer, Renee Smyth, Amanda Spurdle, Patricia Sullivan, Samantha Sundercombe, David Thorburn, John Toubia, Ronald Trent, Emma Tudini, Irina Voneague, Leigh Waddell, Logan Walker, Mathew Wallis, Nick Warnock, Robert Weatheritt, Deborah White, Ingrid Winship, Lisa Worgan, Kathy Wu, Andrew Ziolowski
المساهمون: Bournazos, Adam M, Riley, Lisa G, Bommireddipalli, Shobhana, Ades, Lesley, Cooper, Sandra T, Toubia, John, Australasian Consortium for RNA Diagnostics
مصطلحات موضوعية: Adult, Adolescent, RNA Splicing, Genetic counseling, putative splice variant, Biology, law.invention, genetic diagnosis, law, Exome Sequencing, Biopsy, medicine, Humans, variant classification, Gene, Genetics (clinical), Polymerase chain reaction, Genetics, medicine.diagnostic_test, Sequence Analysis, RNA, noncoding variant, RNA, Heterozygote advantage, Amplicon, Child, Preschool, Mutation, RNA splicing, pre-mRNA splicing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e89d7bfd7ca0514671d5a9885197b140Test
https://hdl.handle.net/11541.2/34507Test -
4دورية أكاديمية
المؤلفون: Ferreira C. R., Rahman S., Keller M., Zschocke J., ICIMD Advisory Group: Jose Abdenur, Houda Ali, Rafael Artuch, Andrea Ballabio, Bruce Barshop, Matthias Baumgartner, Enrico Silvio Bertini, Nenad Blau, Valerio Carelli, Christopher Carroll, Patrick F Chinnery, John Christodoulou, Veronica Cornejo, Niklas Darin, Terry Derks, Daria Diodato, Carlo Dionisi-Vici, John A Duley, Toshi Fukao, Ángeles García-Cazorla, Roberto Giugliani, Amy Goldstein, Georg Hoffmann, Rita Horvath, Isabel Ibarra, Anita Inwood, Jaak Jaeken, Cecilia Jimenez-Mallebrera, Amel Karaa, Thomas Klopstock, Stefan Kölker, Cornelia Kornblum, Viktor Kožich, Costanza Lamperti, Nils-Göran Larsson, Aida Lemes, Barry Lewis, Michelangelo Mancuso, Robert McFarland, Fanny Mochel, Julio Montoya, Eva Morava, Karin Naess, Torayuki Okuyama, Annie Olry, Veronique Paquis-Flucklinger, Sumit Parikh, Marc Patterson, Ceila Pérez de Ferrán, Verena Peters, Holger Prokisch, Ann Saada, Gajja S Salomons, Jean-Marie Saudubray, Maurizio Scarpa, Ulrike Schara-Schmidt, Manuel Schiff, Serenella Servidei, Jan Smeitink, Anu Suomalainen, Trine Tangeraas, Robert W Taylor, Ines Thiele, David Thorburn, Johan Van Hove, Ans T Van der Ploeg, Clara Van Karnebeek, Gepke Visser, Jerry Vockley, Ronald Wanders, Dianne Webster, Anna Wedell, Veronica Wiley, Anna Wredenberg, Massimo Zeviani
المساهمون: C. R., Ferreira, S., Rahman, M., Keller, J., Zschocke, Advisory Group: Jose Abdenur, Icimd, Ali, Houda, Artuch, Rafael, Ballabio, Andrea, Barshop, Bruce, Baumgartner, Matthia, Silvio Bertini, Enrico, Blau, Nenad, Carelli, Valerio, Carroll, Christopher, F Chinnery, Patrick, Christodoulou, John, Cornejo, Veronica, Darin, Nikla, Derks, Terry, Diodato, Daria, Dionisi-Vici, Carlo, A Duley, John, Fukao, Toshi, García-Cazorla, Ángele, Giugliani, Roberto, Goldstein, Amy, Hoffmann, Georg, Horvath, Rita, Ibarra, Isabel, Inwood, Anita, Jaeken, Jaak, Jimenez-Mallebrera, Cecilia, Karaa, Amel, Klopstock, Thoma, Kölker, Stefan, Kornblum, Cornelia, Kožich, Viktor, Lamperti, Costanza, Larsson, Nils-Göran, Lemes, Aida, Lewis, Barry, Mancuso, Michelangelo, Mcfarland, Robert, Mochel, Fanny, Montoya, Julio, Morava, Eva, Naess, Karin, Okuyama, Torayuki, Olry, Annie, Paquis-Flucklinger, Veronique, Parikh, Sumit, Patterson, Marc, Pérez de Ferrán, Ceila, Peters, Verena, Prokisch, Holger, Saada, Ann, S Salomons, Gajja, Saudubray, Jean-Marie, Scarpa, Maurizio, Schara-Schmidt, Ulrike, Schiff, Manuel, Servidei, Serenella, Smeitink, Jan, Suomalainen, Anu, Tangeraas, Trine, W Taylor, Robert, Thiele, Ine, Thorburn, David, Van Hove, Johan, T Van der Ploeg, An, Van Karnebeek, Clara, Visser, Gepke, Vockley, Jerry, Wanders, Ronald, Webster, Dianne, Wedell, Anna, Wiley, Veronica, Wredenberg, Anna, Zeviani, Massimo
مصطلحات موضوعية: classification, ICIMD, inherited metabolic disorder, ontology
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000614037700017; volume:44; issue:1; firstpage:164; lastpage:177; numberofpages:14; journal:JOURNAL OF INHERITED METABOLIC DISEASE; http://hdl.handle.net/11588/854605Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85101896221
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المؤلفون: David Thorburn
المصدر: Critical Studies in Television: The International Journal of Television Studies. 14:160-169
مصطلحات موضوعية: Cultural Studies, 0508 media and communications, 050903 gender studies, business.industry, Communication, Political science, 05 social sciences, 050801 communication & media studies, 0509 other social sciences, Current (fluid), Telecommunications, business, Relative stability
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3d18760cdc94ac5ca06e5462f161625dTest
https://doi.org/10.1177/1749602019835305Test -
6كتاب
المؤلفون: Richard Cotton, Myles Axton, Agnes Bankier, Bernard Brais, Lawrence Cavedon, Desirée du Sart, Peter George, David Goldgar, Terence Harrison, Marienne Hibbert, John Hopper, Finlay Macrae, Christine M. O’Keefe, David Ravine, Ravi Savarirayan, Les Sheffield, Tim Smith, Nicola Stokes, Vijaya Sundararajan, David Thorburn, Ingrid Winship
المصدر: Nature Precedings
مصطلحات موضوعية: Genetics & Genomics, Bioinformatics
العلاقة: http://precedings.nature.com/documents/1784/version/2Test; oai:nature.com:10.1038/npre.2008.1784.2; http://dx.doi.org/10.1038/npre.2008.1784.2Test
الإتاحة: https://doi.org/10.1038/npre.2008.1784.2Test
http://precedings.nature.com/documents/1784/version/2Test -
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المؤلفون: David Thorburn
المصدر: Cinema Journal. 50:194-201
مصطلحات موضوعية: Visual Arts and Performing Arts, Series (mathematics), Computer graphics (images), media_common.quotation_subject, Art, media_common
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1948d4cca8aa27764b21b5de6940b1e4Test
https://doi.org/10.1353/cj.2011.0048Test -
8مؤتمر
المؤلفون: Elena Tucker, Alison Compton, Matthew McKenzie, Sarah Calvo, David Pagliarini, Vamsi Mootha, Michael Ryan, David Thorburn
مصطلحات موضوعية: Genetics not elsewhere classified, Science & Technology, Life Sciences & Biomedicine, Cell Biology, Genetics & Heredity, Genetics
العلاقة: http://hdl.handle.net/10536/DRO/DU:30142179Test; https://figshare.com/articles/conference_contribution/A_splice-site_mutation_in_C8orf38_causes_impaired_Complex_I_assembly_due_to_a_defect_in_translation_or_integration_of_ND1_into_an_early_assembly_intermediate/20696974Test
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9دورية أكاديمية
المؤلفون: Nor Azian Abdul Murad, Jason K Cullen, Matthew McKenzie, Michael T Ryan, David Thorburn, Nuri Gueven, Junya Kobayashi, Geoff Birrell, Jian Yang, Thilo Dörk, Olivier Becherel, Padraic Grattan-Smith, Martin F Lavin
مصطلحات موضوعية: Genetics not elsewhere classified, Ataxia, Mitochondria, DNA damage, Amino Acid Substitution, Animals, Chromosome Disorders, Cytochromes b, DNA Mutational Analysis, DNA, Mitochondrial, Electron Transport, Membrane Potential, Mitochondrial Diseases, Mutation, Missense, Oxidative Stress, Protein Stability, Reactive Oxygen Species, Tumor Suppressor Protein p53, Science & Technology, Life Sciences & Biomedicine, Cell Biology, Genetics & Heredity, OCULOMOTOR APRAXIA TYPE-2, OCULAR MOTOR APRAXIA, DNA-DAMAGE, APOPTOSIS RESISTANCE, PROTEIN APRATAXIN, ENCODED SUBUNITS
العلاقة: http://hdl.handle.net/10536/DRO/DU:30112309Test; https://figshare.com/articles/journal_contribution/Mitochondrial_dysfunction_in_a_novel_form_of_autosomal_recessive_ataxia/20798500Test
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المؤلفون: David Thorburn
المصدر: Critical Studies in Mass Communication. 10:113-127
مصطلحات موضوعية: Value (ethics), Communication, media_common.quotation_subject, Interpretation (philosophy), Subject matter, Scholarship, Excellence, Aesthetics, Reading (process), Law, Sociology, Ideology, Dove, media_common
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b72864fc66e6d8b8c75816669a8fe739Test
https://doi.org/10.1080/15295039309366854Test