Showing 1 - 20 results of 22 for search 'J. Rodenburg', query time: 0.05s
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Improving RNN Performance by Modelling Informative Missingness with Combined Indicators by Frans J. Rodenburg, Yoshihide Sawada, Nobuhiro Hayashi
Published 2019-04-01
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Gender Stereotypes in Science Education Resources: A Visual Content Analysis. by Anne H Kerkhoven, Pedro Russo, Anne M Land-Zandstra, Aayush Saxena, Frans J Rodenburg
Published 2016-01-01
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Status quo and challenges of rice production in sub-Saharan Africa by K. Saito, K. Senthilkumar, E. R. Dossou-Yovo, I. Ali, J-M. Johnson, G. Mujawamariya, J. Rodenburg
Published 2023-07-01
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Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality by Firas Abu Hanna, Yoav Zehavi, Eran Cohen-Barak, Morad Khayat, Nasim Warwar, Roni Shreter, Richard J. Rodenburg, Ronen Spiegel
Published 2024-02-01
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Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia by Sanna Puusepp, Karit Reinson, Sander Pajusalu, Ülle Murumets, Eve Õiglane-Shlik, Reet Rein, Inga Talvik, Richard J. Rodenburg, Katrin Õunap
Published 2018-06-01
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A Drosophila Mitochondrial Complex I Deficiency Phenotype Array by Sarah Foriel, Sarah Foriel, G. Herma Renkema, G. Herma Renkema, Yvonne Lasarzewski, Job Berkhout, Richard J. Rodenburg, Jan A. M. Smeitink, Jan A. M. Smeitink, Julien Beyrath, Annette Schenck
Published 2019-03-01
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Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cells by Marlen Melcher, Katharina Danhauser, Annette Seibt, Özer Degistirici, Fabian Baertling, Arun Kumar Kondadi, Andreas S. Reichert, Werner J. H. Koopman, Peter H. G. M. Willems, Richard J. Rodenburg, Ertan Mayatepek, Roland Meisel, Felix Distelmaier
Published 2017-06-01
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Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome by Sofia Barbosa-Gouveia, Maria E. Vázquez-Mosquera, Emiliano Gonzalez-Vioque, Álvaro Hermida-Ameijeiras, Laura L. Valverde, Judith Armstrong-Moron, Maria del Carmen Fons-Estupiña, Liesbeth T. Wintjes, Antonia Kappen, Richard J. Rodenburg, Maria L. Couce
Published 2021-12-01
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Analysis of 953 human proteins from a mitochondrial HEK293 fraction by complexome profiling. by Hans J C T Wessels, Rutger O Vogel, Robert N Lightowlers, Johannes N Spelbrink, Richard J Rodenburg, Lambert P van den Heuvel, Alain J van Gool, Jolein Gloerich, Jan A M Smeitink, Leo G Nijtmans
Published 2013-01-01
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Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency by Bryn D Webb, Sara M Nowinski, Ashley Solmonson, Jaya Ganesh, Richard J Rodenburg, Joao Leandro, Anthony Evans, Hieu S Vu, Thomas P Naidich, Bruce D Gelb, Ralph J DeBerardinis, Jared Rutter, Sander M Houten
Published 2023-03-01
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Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway by Marcello Ziosi, Ivano Di Meo, Giulio Kleiner, Xing‐Huang Gao, Emanuele Barca, Maria J Sanchez‐Quintero, Saba Tadesse, Hongfeng Jiang, Changhong Qiao, Richard J Rodenburg, Emmanuel Scalais, Markus Schuelke, Belinda Willard, Maria Hatzoglou, Valeria Tiranti, Catarina M Quinzii
Published 2017-01-01
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Long-term treated HIV infection is associated with platelet mitochondrial dysfunction by Wouter A. van der Heijden, Lisa van de Wijer, Martin Jaeger, Karin Grintjes, Mihai G. Netea, Rolf T. Urbanus, Reinout van Crevel, Lambertus P. van den Heuvel, Maaike Brink, Richard J. Rodenburg, Philip G. de Groot, Andre J. van der Ven, Quirijn de Mast
Published 2021-03-01
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Correction: Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons. by Naila Haq, Christoph Schmidt-Hieber, Fernando J Sialana, Lorenza Ciani, Janosch P Heller, Michelle Stewart, Liz Bentley, Sara Wells, Richard J Rodenburg, Patrick M Nolan, Elizabeth Forsythe, Michael C Wu, Gert Lubec, Patricia C Salinas, Michael Häusser, Philip L Beales, Sofia Christou-Savina
Published 2019-10-01
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Correction: New Findings in a Global Approach to Dissect the Whole Phenotype of Gene Mutations. by Mustafa A. Salih, Emeline Mundwiller, Arif O. Khan, Abdulmajeed AlDrees, Salah A. Elmalik, Hamdy H. Hassan, Mohammed Al-Owain, Hisham M. S. Alkhalidi, Istvan Katona, Mohammad M. Kabiraj, Roman Chrast, Amal Y. Kentab, Hamad Alzaidan, Richard J. Rodenburg, Thomas M. Bosley, Joachim Weis, Michel Koenig, Giovanni Stevanin, Hamid Azzedine
Published 2013-01-01
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New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations. by Mustafa A Salih, Emeline Mundwiller, Arif O Khan, Abdulmajeed AlDrees, Salah A Elmalik, Hamdy H Hassan, Mohammed Al-Owain, Hisham M S Alkhalidi, Istvan Katona, Mohammad M Kabiraj, Roman Chrast, Amal Y Kentab, Hamad Alzaidan, Richard J Rodenburg, Thomas M Bosley, Joachim Weis, Michel Koenig, Giovanni Stevanin, Hamid Azzedine
Published 2013-01-01
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Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression. by Elena J Tucker, Bas F J Wanschers, Radek Szklarczyk, Hayley S Mountford, Xiaonan W Wijeyeratne, Mariël A M van den Brand, Anne M Leenders, Richard J Rodenburg, Boris Reljić, Alison G Compton, Ann E Frazier, Damien L Bruno, John Christodoulou, Hitoshi Endo, Michael T Ryan, Leo G Nijtmans, Martijn A Huynen, David R Thorburn
Published 2013-01-01
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RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis by Jonathan Shintaku, Wolfgang M. Pernice, Wafaa Eyaid, Jeevan B. GC, Zuben P. Brown, Marti Juanola-Falgarona, Javier Torres-Torronteras, Ewen W. Sommerville, Debby M.E.I. Hellebrekers, Emma L. Blakely, Alan Donaldson, Ingrid van de Laar, Cheng-Shiun Leu, Ramon Marti, Joachim Frank, Kurenai Tanji, David A. Koolen, Richard J. Rodenburg, Patrick F. Chinnery, H.J.M. Smeets, Gráinne S. Gorman, Penelope E. Bonnen, Robert W. Taylor, Michio Hirano
Published 2022-07-01
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MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load by Yi Shiau Ng, Nichola Z. Lax, Paul Maddison, Charlotte L. Alston, Emma L. Blakely, Philippa D. Hepplewhite, Gillian Riordan, Surita Meldau, Patrick F. Chinnery, Germaine Pierre, Efstathia Chronopoulou, Ailian Du, Imelda Hughes, Andrew A. Morris, Smaragda Kamakari, Georgia Chrousos, Richard J. Rodenburg, Christiaan G.J. Saris, Catherine Feeney, Steven A. Hardy, Takafumi Sakakibara, Akira Sudo, Yasushi Okazaki, Kei Murayama, Helen Mundy, Michael G. Hanna, Akira Ohtake, Andrew M. Schaefer, Mike P. Champion, Doug M. Turnbull, Robert W. Taylor, Robert D.S. Pitceathly, Robert McFarland, Gráinne S. Gorman
Published 2018-04-01
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