Výsledky vyhledávání - Lezzerini, Marco
- Zobrazuji výsledky 1 - 9 z 9
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A uniparental isodisomy event introducing homozygous pathogenic variants drives a multisystem metabolic disorder Autor Daniels, Eileen G., Alders, Marielle, Lezzerini, Marco, McDonald, Andrew, Peters, Marjolein, Kuijpers, Taco W., Lakeman, Phillis, Houtkooper, Riekelt H., MacInnes, Alyson W.
Vydáno 2019Text -
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Driver mutations of the adenoma-carcinoma sequence govern the intestinal epithelial global translational capacity Autor Smit, Wouter Laurentius, Spaan, Claudia Nanette, Johannes de Boer, Ruben, Ramesh, Prashanthi, Martins Garcia, Tânia, Meijer, Bartolomeus Joannes, Vermeulen, Jacqueline Ludovicus Maria, Lezzerini, Marco, MacInnes, Alyson Winfried, Koster, Jan, Medema, Jan Paul, van den Brink, Gijs Robert, Muncan, Vanesa, Heijmans, Jarom
Vydáno 2020Text -
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A conserved mito-cytosolic translational balance links two longevity pathways Autor Molenaars, Marte, Janssens, Georges E., Williams, Evan G., Jongejan, Aldo, Lan, Jiayi, Rabot, Sylvie, Joly, Fatima, Moerland, Perry D., Schomakers, Bauke V., Lezzerini, Marco, Liu, Yasmine J., McCormick, Mark A., Kennedy, Brian K., van Weeghel, Michel, van Kampen, Antoine H.C., Aebersold, Ruedi, MacInnes, Alyson W., Houtkooper, Riekelt H.
Vydáno 2020Text -
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HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans Autor Duijkers, Floor A., McDonald, Andrew, Janssens, Georges E., Lezzerini, Marco, Jongejan, Aldo, van Koningsbruggen, Silvana, Leeuwenburgh-Pronk, Wendela G., Wlodarski, Marcin W., Moutton, Sébastien, Tran-Mau-Them, Frédéric, Thauvin-Robinet, Christel, Faivre, Laurence, Monaghan, Kristin G., Smol, Thomas, Boute-Benejean, Odile, Ladda, Roger L., Sell, Susan L., Bruel, Ange-Line, Houtkooper, Riekelt H., MacInnes, Alyson W.
Vydáno 2019Text -
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HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia Autor O’Donohue, Marie-Françoise, Da Costa, Lydie, Lezzerini, Marco, Unal, Sule, Joret, Clément, Bartels, Marije, Brilstra, Eva, Scheijde-Vermeulen, Marijn, Wacheul, Ludivine, De Keersmaecker, Kim, Vereecke, Stijn, Labarque, Veerle, Saby, Manon, Lefevre, Sophie D., Platon, Jessica, Montel-Lehry, Nathalie, Laugero, Nathalie, Lacazette, Eric, van Gassen, Koen, Houtkooper, Riekelt H., Simsek-Kiper, Pelin Ozlem, Leblanc, Thierry, Yarali, Nese, Cetinkaya, Arda, Akarsu, Nurten A., Gleizes, Pierre-Emmanuel, Lafontaine, Denis L. J., MacInnes, Alyson W.
Vydáno 2022Text -
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Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism Autor Lezzerini, Marco, Penzo, Marianna, O’Donohue, Marie-Françoise, Marques dos Santos Vieira, Carolina, Saby, Manon, Elfrink, Hyung L, Diets, Illja J, Hesse, Anne-Marie, Couté, Yohann, Gastou, Marc, Nin-Velez, Alexandra, Nikkels, Peter G J, Olson, Alexandra N, Zonneveld-Huijssoon, Evelien, Jongmans, Marjolijn C J, Zhang, GuangJun, van Weeghel, Michel, Houtkooper, Riekelt H, Wlodarski, Marcin W, Kuiper, Roland P, Bierings, Marc B, van der Werff ten Bosch, Jutte, Leblanc, Thierry, Montanaro, Lorenzo, Dinman, Jonathan D, Da Costa, Lydie, Gleizes, Pierre-Emmanuel, MacInnes, Alyson W
Vydáno 2020Text