Søgeresultater - Mike Gerards
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Screen for mitochondrial <scp>DNA</scp> copy number maintenance genes reveals essential role for <scp>ATP</scp> synthase af Atsushi Fukuoh, Giuseppe Cannino, Mike Gerards, Suzanne M. K. Buckley, Selena Kazancioglu, Filippo Scialò, Eero Lihavainen, André S. Ribeiro, Éric Dufour, Howard T. Jacobs
Udgivet 2014Artigo -
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Tfam Knockdown Results in Reduction of mtDNA Copy Number, OXPHOS Deficiency and Abnormalities in Zebrafish Embryos af Auke B.C. Otten, Rick Kamps, Patrick Lindsey, Mike Gerards, Hélène Pendeville-Samain, Marc Müller, Florence H. J. van Tienen, H.J.M. Smeets
Udgivet 2020Artigo -
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Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors af Juan Darío Ortigoza‐Escobar, Majid Alfadhel, Marta Molero‐Luis, Niklas Darín, Ronen Spiegel, I.F.M. de Coo, Mike Gerards, Robert W. Taylor, Rafael Artuch, Marwan Nashabat, Pilar Rodríguez‐Pombo, Brahim Tabarki, Belén Pérez‐Dueñas
Udgivet 2017Artigo -
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Defective NDUFA9 as a novel cause of neonatally fatal complex I disease af B.J.C. van den Bosch, Mike Gerards, Wim J. Sluiter, Alexander P.A. Stegmann, Eveline Jongen, Debby M.E.I. Hellebrekers, Renske Oegema, Ellen Lambrichs, Holger Prokisch, Katharina Danhauser, Kees Schoonderwoerd, I.F.M. de Coo, Hubert J.M. Smeets
Udgivet 2011Artigo -
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Exome sequencing reveals a novel Moroccan founder mutation in<i>SLC19A3</i>as a new cause of early-childhood fatal Leigh syndrome af Mike Gerards, Rick Kamps, Jo van Oevelen, Iris Boesten, Eveline Jongen, Bart de Koning, H.R. Scholte, Isabel de Angst, Kees Schoonderwoerd, Abdelaziz Sefiani, Ilham Ratbi, Wouter Coppieters, Latifa Karim, I.F.M. de Coo, Bianca van den Bosch, Hubert J.M. Smeets
Udgivet 2013Artigo -
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Differences in Strength and Timing of the mtDNA Bottleneck between Zebrafish Germline and Non-germline Cells af Auke B.C. Otten, Tom E. J. Theunissen, Josien G. Derhaag, Ellen Lambrichs, Iris Boesten, Marie Winandy, Aafke P.A. van Montfoort, Katsiaryna Tarbashevich, Erez Raz, Mike Gerards, Jo Vanoevelen, B.J.C. van den Bosch, Marc Müller, Hubert J.M. Smeets
Udgivet 2016Artigo -
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Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome af Mike Gerards, Wim J. Sluiter, B.J.C. van den Bosch, L. Elly A. de Wit, Chantal Calis, M. Frentzen, Hana Akbari, Kees Schoonderwoerd, H.R. Scholte, R. J. E. Jongbloed, Alexandra T.M. Hendrickx, I.F.M. de Coo, Hubert J.M. Smeets
Udgivet 2009Artigo -
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Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background af Gavin Hudson, Valério Carelli, Liesbeth Spruijt, Mike Gerards, Catherine Mowbray, Alessandro Achilli, Angela Pyle, Joanna L. Elson, Neil Howell, Chiara La Morgia, Maria Lucia Valentino, Kirsi Huoponen, Marja-Liisa Savontaus, Eeva Nikoskelainen, Alfredo A. Sadun, Solange Rios Salomão, Rubens Belfort, Philip G. Griffiths, Patrick Yu Wai Man, I.F.M. de Coo, Rita Horváth, Massimo Zeviani, Hubert Smeets, Antonio Torroni, Patrick F. Chinnery
Udgivet 2007Artigo -
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Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause af Tom E. J. Theunissen, Minh Nguyen, Rick Kamps, Alexandra T.M. Hendrickx, Suzanne C.E.H. Sallevelt, Ralph W.H. Gottschalk, Chantal Calis, Alphons P. M. Stassen, Bart de Koning, Elvira N. M. Mulder-Den Hartog, Kees Schoonderwoerd, Sabine A. Fuchs, Yvonne Hilhorst‐Hofstee, Marjolein Visser, Jo Vanoevelen, Radek Szklarczyk, Mike Gerards, I.F.M. de Coo, Debby M.E.I. Hellebrekers, Hubert J.M. Smeets
Udgivet 2018Artigo
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Biology
Gene
Genetics
Mitochondrial DNA
Computer science
Medicine
Mutation
Phenotype
Exome sequencing
Mitochondrial disease
Disease gene identification
Embryo
Exome
Genetic heterogeneity
Human mitochondrial genetics
Internal medicine
Leigh disease
Thiamine
Zebrafish
Artificial intelligence
Biochemistry
Biological system
Biotechnology
Botany
Bottleneck
Candidate gene
Cell biology
Cluster analysis
Complementation
Computational biology