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1دورية أكاديمية
المؤلفون: Jessie Poquérusse, Melinda Nolan, David R. Thorburn, Johan L. K. Van Hove, Marisa W. Friederich, Donald R. Love, Juliet Taylor, Christopher A. Powell, Michal Minczuk, Russell G. Snell, Klaus Lehnert, Emma Glamuzina, Jessie C. Jacobsen
المصدر: JIMD Reports, Vol 64, Iss 3, Pp 223-232 (2023)
مصطلحات موضوعية: CARS2, mitochondrial disorders, neurodevelopmental disorder, tRNA synthetases, whole‐exome sequencing, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
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2دورية أكاديمية
المؤلفون: Lindsey Van Haute, Emily O’Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella H. Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J. Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A. Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha S. Zaki, Alban Ziegler, David R. Thorburn, David A. Stroud, Reza Maroofian, John Christodoulou, Claes Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath
المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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3دورية أكاديمية
المؤلفون: Wui‐Kwan Wong, Shanti Balasubramaniam, Rachel S. H. Wong, Nicole Graf, David R. Thorburn, Robert McFarland, Christopher Troedson
المصدر: JIMD Reports, Vol 63, Iss 6, Pp 546-554 (2022)
مصطلحات موضوعية: CTBP1, neurodevelopmental disorder, secondary mitochondrial dysfunction, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
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4دورية أكاديمية
المؤلفون: Milena M. Andzelm, Shanti Balasubramaniam, Edward Yang, Alison G. Compton, Kate Millington, Jia Zhu, Irina Anselm, Lance H. Rodan, David R. Thorburn, John Christodoulou, Siddharth Srivastava
المصدر: JIMD Reports, Vol 63, Iss 5, Pp 391-399 (2022)
مصطلحات موضوعية: autoimmune diabetes, mitochondrial disorder, NDUFS8, progressive leukodystrophy, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
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5دورية أكاديمية
المؤلفون: Lauren S. Akesson, Rocio Rius, Natasha J. Brown, Jeremy Rosenbaum, Sarah Donoghue, Michael Stormon, Charmaine Chai, Esmeralda Bordador, Yiran Guo, Hakon Hakonarson, Alison G. Compton, David R. Thorburn, Sumudu Amarasekera, Justine Marum, Alisha Monaco, Crystle Lee, Belinda Chong, Sebastian Lunke, Zornitza Stark, John Christodoulou
المصدر: JIMD Reports, Vol 63, Iss 3, Pp 240-249 (2022)
مصطلحات موضوعية: functional genomics, genome sequencing, pediatrics, rapid genomic sequencing, recurrent acute liver failure, variant classification, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
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6دورية أكاديمية
المصدر: Open Biology, Vol 12, Iss 12 (2022)
مصطلحات موضوعية: mitochondria, mitochondrial protein import, mitochondrial quality control, secondary mitochondrial disease, Biology (General), QH301-705.5
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2046-2441
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7دورية أكاديمية
المؤلفون: Cesare Granata, Nikeisha J. Caruana, Javier Botella, Nicholas A. Jamnick, Kevin Huynh, Jujiao Kuang, Hans A. Janssen, Boris Reljic, Natalie A. Mellett, Adrienne Laskowski, Tegan L. Stait, Ann E. Frazier, Melinda T. Coughlan, Peter J. Meikle, David R. Thorburn, David A. Stroud, David J. Bishop
المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-18 (2021)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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8دورية أكاديمية
المؤلفون: Giulia Barcia, Dinusha Pandithan, Benedetta Ruzzenente, Zahra Assouline, Alessandra Pennisi, Clothilde Ormieres, Claude Besmond, Charles-Joris Roux, Nathalie Boddaert, Isabelle Desguerre, David R. Thorburn, Drago Bratkovic, Arnold Munnich, Jean-Paul Bonnefont, Agnès Rötig, Julie Steffann
المصدر: Haematologica, Vol 106, Iss 4 (2020)
مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Nicole J. Van Bergen, Daniella H. Hock, Lucy Spencer, Sean Massey, Tegan Stait, Zornitza Stark, Sebastian Lunke, Ain Roesley, Heidi Peters, Joy Yaplito Lee, Anna Le Fevre, Oliver Heath, Cristina Mignone, Joseph Yuan-Mou Yang, Monique M. Ryan, Colleen D’Arcy, Margot Nash, Sile Smith, Nikeisha J. Caruana, David R. Thorburn, David A. Stroud, Susan M. White, John Christodoulou, Natasha J. Brown
المصدر: International Journal of Molecular Sciences, Vol 23, Iss 2, p 986 (2022)
مصطلحات موضوعية: mitochondria, reactive oxygen species, genome sequencing, mitoribosome, oxidative phosphorylation, PYROXD2, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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10دورية أكاديمية
المؤلفون: Claudia Loetsch, Joanna Warren, Adrienne Laskowski, Rodrigo Vazquez-Lombardi, Christoph Jandl, David B. Langley, Daniel Christ, David R. Thorburn, David K. Ryugo, Jonathan Sprent, Marcel Batten, Cecile King
المصدر: Cell Reports, Vol 21, Iss 6, Pp 1624-1638 (2017)
مصطلحات موضوعية: Biology (General), QH301-705.5
وصف الملف: electronic resource